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Re: [Myotubular_Myopathy] I need some help

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  • Marie Hanratty
    Thank you Anne for your understanding.  I spoke to Nathans consultant tonight and she is very keen to talk to someone about Nathans Jandice as so far they are
    Message 1 of 18 , Aug 24 2:11 PM
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      Thank you Anne for your understanding.  I spoke to Nathans consultant tonight and she is very keen to talk to someone about Nathans Jandice as so far they are not able to find a reason for it.  She had talked to someone in Great Ormond st but she was able to tel me that Professor Muntoni is on hospital and the dr she spoke to said they only had experience of miler cases so she was consideringtrying to find out who to contact in the states.  Would it b ok if I give her your number as you might have some useful numbers for her?


      From: Anne Lennox <anne@...>
      To: Myotubular_Myopathy@yahoogroups.com
      Sent: Thursday, 20 August, 2009 11:50:15
      Subject: RE: [Myotubular_Myopathy] I need some help

       

      Dear Marie
      I have read your email with huge shock and devastation for your family. I simply cannot believe how Nathan is being treated - the things these doctors are saying is OUTRAGEOUS.  I'm Irish too but live in London and so have had a son with mtm under the care of the NHS too, and what you're being told is not 'standard practice'.  My son Tom died of mtm in 2007 but until then (he was nearly 4 years old) every medic we dealt with in London with experience of mtm was willing to support us and him 100%.  Professor Muntoni the head of the Dubowitz Neuromuscular Centre at Great Ormond St was Tom's consultant from the minute he was diagnosed.  He is an extraordinary man who treats these boys with the greatest amount of respect - I simply have never met anyone like him.  Even in the last months of Tom's life, after an airway blockage had caused irreversible brain damage and he was clearly not going to survive, Professor Muntoni came out here to our house to see him and blew me away with the dignity with which he treated him. The idea that his team would say not to intubate or tube feed a boy with severe MTM seems preposterous to me.  Tom did seem to have a milder form because he could breathe very well on his own, but his bulbar function was dreadful and he was always tube fed.  But in my experience I just cannot imagine the team under Professor Muntoni saying that they had 'a policy not to intubate or tube feed'
       
      I am a founder of the Myotubular Trust the charity that raises funds in the UK and  Europe for mtm/cnm and when we first set it up in 2006 we had Professor Muntoni interviewed by a journalist friend of mine who was in charge of Health for the Evening Standard at the time as we wanted to convey to 'non-family' fundraisers why there was hope for these boys.  You can find the full article on this page of our site http://www.myotubul artrust.com/ page4.htm.  Scroll to the bottom and press the 'Research interview' link. But in case you can't access it, I've pasted in an excerpt at the end of this email, just to show you what Prof M thinks of these boys quality of life.
       
      And as for Nathan not being a priority for swine flu treatment that is beyond shocking.  A couple of weeks ago my one year old boy seemed to have swine flu symptoms and in talking about whether he needed Tamiflu with my GP, her point was that 'ordinary' children (Rory doesn't have MTM) did not need all this excitement and intervention. By way of illustration, she was saying to me that if Tom was alive it would be to him that every single kind of support and intervention would be directed. It was never in any doubt to any of Tom's medics that his life was worth living beyond measure. 
       
      This summer we went to Norfolk for a week's holiday. We chose to go there because my 9 year old daughter Sophie really wanted to see someone else who was going on holiday there....a little boy, also of 9, who had mtm.  This little boy is on a ventilator, tube fed....and a total joy to be with. He's happy, smiley, cheeky, gentle, beautiful.  He goes to mainstream school, is really into animals, loves books about 'facts', used to have mice as pets... and my daughter still thinks, 2 years after Tom died, that mtm boys are so much 'better than ordinary boys'.  We went with this little boy and his parents a) on a boat on the Norfolk Broads, b) to the seaside where he tried FIVE different flavours of ice cream - because if you're tube fed you deserve to be allowed taste lots of ice creams!, c) on a fairground ride, d) on a road train by the sea, e) rock picking (and yes of course he stayed up on the slipway and Sophie ran up and down picking stones - but they'd both be very surprised if anyone suggested they were having less than a good time), f) to an amusement arcade g) to a radar museum, h) played chase, harassed other tourists by racing around on the wheelchair, Sophie standing on the back and the little boy going at full speed.  And like all 9 year olds, they both had to be called back 3 or 4 times to be given a good telling off!... you get my drift!  Just children, living their lives.  With a ventilator in tow.
       
      I will ask the little boy's mother if I can send you some pictures of the two of them on holiday if you think Una would like to see them.
       
      If it would help to talk to me privately Marie, or to get access to the Neuromuscular Team at Great Ormond St, my email address is anne@olennox. com and my numbers are 0207 3502803 or 07885 309753.  I promise I don't normally sounds as rabid as this email might do - I'm just enraged that anyone could begin to say that Nathan was not a priority for care.  Thank goodness he has such a wonderful mother and family
       
      With my very best wishes
      Anne Lennox
       
       

       Excerpt from RESEARCH INTERVIEW WITH

      PROFESSOR F MUNTONI, PROFESSOR OF PAEDIATRIC NEUROLOGY,

      IMPERIAL COLLEGE , LONDON

      AND ADVISOR TO MYOTUBULAR TRUST

      BY RORY CLEMENTS, HEALTH EDITOR OF

      THE LONDON EVENING STANDARD. 

      MAY 2006.

       

      Professor Muntoni is at pains to make it clear that his patients can have great lives, despite their disabilities. “A number of studies have found that the quality of life of severely disabled children is much better than the professionals – and parents – thought it would be. In fact, it’s not very different in terms of quality of life to that of children without physical disability.”

       

        He explains why this is so by asking me whether I am worried that I won’t be winning the Olympic Games this year. Of course I’m not worried – I have no ambitions in that direction. Running 10k on July 2nd will be quite tough enough for me. “Why are you not worried?” says Muntoni. “It’s because that’s not what you’re focusing on – you’re focusing on other things in life. But if you wanted to win the Marathon , maybe you would have been very depressed if you didn’t win – because that would have been the scope of your life. 

       

       “In the same way, the scope of these children is different. The engine has been running at a lower power from the beginning – so that is the level they are adjusted to, just as you are adjusted to a lower level than a Marathon runner without being any less happy.  These children can have a good, independent life – but they need help and they need to be prepared.”

       

       


      From: Myotubular_Myopathy @yahoogroups. com [mailto:Myotubular_ Myopathy@ yahoogroups. com] On Behalf Of coyle32
      Sent: 20 August 2009 09:36
      To: Myotubular_Myopathy @yahoogroups. com
      Subject: [Myotubular_ Myopathy] I need some help

       

      Hi, I haven't been in touch a lot recently but I do keep up with what is going on with you all. Nathan my grandson is now 3 a wonderful child. It took the doctors here in Northern Ireland 3 years to get a proper diagnosis for Nathan up to now they had him have a number of conditions. The funny thing is when he was a few months only I printed of the information you have and gave it to his doctors and they didn't want to know. Even now as Nathan had developed jaundice I told Una about information on your site regarding liver conditions linked to MTM x-linked and so they tested him for these but so far they have not come up for any reason for the Jaundice. Any way this is not the main problem. This week Nathans consultant seems to be "preparing" Una for the worst. Nathan did have a very bad winter last year and I do not doubt for one minute that he would not be here today if it was not for Una's knowledge of the condition and her son and also standing up to the doctors who did not want to put him in ICU as they needed the beds!! She has been told that they are running out of options and stopped just short of saying they would not intervene if Nathan got as bad again. He told her all about the preparations being made for the Swine Flu in the hospital and that Nathan would not be priority. Also she was told yesterday that they were in touch with Great Ormond Street Hospital for advice and were told that GOS policy was that they would not intubate or tube feed any child born with such a serve form of MTM and so they did not have any advice as they only dealt with milder forms. Apparently only in the USA would there be aggressive intervention. In other words Nathan only got treatment because they did not know what was wrong with him and they had no experience. Does this mean that if another child is born and they recognise the symptoms that that child would be left to die? Una herself said she has experienced this in the ward as Nathan was in hospital for 8 months and she seem quite a few parents of children with children who had rare conditions being told that nothing could be done. Una who has fought in Nathans corner seems now to be preparing to let him go on one hand and in the other feeling like a bad mother. She has one consultant who wants to push Nathan as far as he can go and another who thinks Nathans quality of life is more important and keeping him comfortable and happy. Does anyone have any thoughs on this? I know I am ranting a bit but It is so hard watching my daught go through this and we all love Nathan to bits but are not sure which way is the right thing for him. Una has been tested and she is a carrier, myself and 4 of my daughters are getting tested next week so it is all very emotive at the minute for all of us.

      Kind regars

      Marie
      Grandmother of Nathan age 3


    • Betsy Grant
      Marie, My heart breaks in reading your emails about Nathan. I am as outraged about things as others have said they are. I read a part about jaundice....my son
      Message 2 of 18 , Aug 24 2:24 PM
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        Marie,
        My heart breaks in reading your emails about Nathan. I am as outraged about things as others have said they are.
        I read a part about jaundice....my son had that for a while, with mildly elevated liver enzymes. No reason was found that I know of, but it did go away on it's own, eventually. I could give you the phone number and name of the GI specialist we had. He was in touch with other specialists around the country  at that time who had little to offer. I refused to let him do a liver biopsy, since it would not change anything we were doing, no matter what the answer was and it's a dangerous procedure for these kids.
        My son was born very floppy and couldn't even have his head to the side without de-satting. Now, he's a wonderful 13 year old boy who is doing well. He is relatively healthy and loves life and living, in spite of his trach and vent, and wheelchair. He can sit up on his own.
        All the best to you.
        Betsy

        On Mon, Aug 24, 2009 at 5:11 PM, Marie Hanratty <coyle32@...> wrote:
         

        Thank you Anne for your understanding.  I spoke to Nathans consultant tonight and she is very keen to talk to someone about Nathans Jandice as so far they are not able to find a reason for it.  She had talked to someone in Great Ormond st but she was able to tel me that Professor Muntoni is on hospital and the dr she spoke to said they only had experience of miler cases so she was consideringtrying to find out who to contact in the states.  Would it b ok if I give her your number as you might have some useful numbers for her?


        From: Anne Lennox <anne@...>
        Sent: Thursday, 20 August, 2009 11:50:15
        Subject: RE: [Myotubular_Myopathy] I need some help

         

        Dear Marie
        I have read your email with huge shock and devastation for your family. I simply cannot believe how Nathan is being treated - the things these doctors are saying is OUTRAGEOUS.  I'm Irish too but live in London and so have had a son with mtm under the care of the NHS too, and what you're being told is not 'standard practice'.  My son Tom died of mtm in 2007 but until then (he was nearly 4 years old) every medic we dealt with in London with experience of mtm was willing to support us and him 100%.  Professor Muntoni the head of the Dubowitz Neuromuscular Centre at Great Ormond St was Tom's consultant from the minute he was diagnosed.  He is an extraordinary man who treats these boys with the greatest amount of respect - I simply have never met anyone like him.  Even in the last months of Tom's life, after an airway blockage had caused irreversible brain damage and he was clearly not going to survive, Professor Muntoni came out here to our house to see him and blew me away with the dignity with which he treated him. The idea that his team would say not to intubate or tube feed a boy with severe MTM seems preposterous to me.  Tom did seem to have a milder form because he could breathe very well on his own, but his bulbar function was dreadful and he was always tube fed.  But in my experience I just cannot imagine the team under Professor Muntoni saying that they had 'a policy not to intubate or tube feed'
         
        I am a founder of the Myotubular Trust the charity that raises funds in the UK and  Europe for mtm/cnm and when we first set it up in 2006 we had Professor Muntoni interviewed by a journalist friend of mine who was in charge of Health for the Evening Standard at the time as we wanted to convey to 'non-family' fundraisers why there was hope for these boys.  You can find the full article on this page of our site http://www.myotubul artrust.com/ page4.htm.  Scroll to the bottom and press the 'Research interview' link. But in case you can't access it, I've pasted in an excerpt at the end of this email, just to show you what Prof M thinks of these boys quality of life.
         
        And as for Nathan not being a priority for swine flu treatment that is beyond shocking.  A couple of weeks ago my one year old boy seemed to have swine flu symptoms and in talking about whether he needed Tamiflu with my GP, her point was that 'ordinary' children (Rory doesn't have MTM) did not need all this excitement and intervention. By way of illustration, she was saying to me that if Tom was alive it would be to him that every single kind of support and intervention would be directed. It was never in any doubt to any of Tom's medics that his life was worth living beyond measure. 
         
        This summer we went to Norfolk for a week's holiday. We chose to go there because my 9 year old daughter Sophie really wanted to see someone else who was going on holiday there....a little boy, also of 9, who had mtm.  This little boy is on a ventilator, tube fed....and a total joy to be with. He's happy, smiley, cheeky, gentle, beautiful.  He goes to mainstream school, is really into animals, loves books about 'facts', used to have mice as pets... and my daughter still thinks, 2 years after Tom died, that mtm boys are so much 'better than ordinary boys'.  We went with this little boy and his parents a) on a boat on the Norfolk Broads, b) to the seaside where he tried FIVE different flavours of ice cream - because if you're tube fed you deserve to be allowed taste lots of ice creams!, c) on a fairground ride, d) on a road train by the sea, e) rock picking (and yes of course he stayed up on the slipway and Sophie ran up and down picking stones - but they'd both be very surprised if anyone suggested they were having less than a good time), f) to an amusement arcade g) to a radar museum, h) played chase, harassed other tourists by racing around on the wheelchair, Sophie standing on the back and the little boy going at full speed.  And like all 9 year olds, they both had to be called back 3 or 4 times to be given a good telling off!... you get my drift!  Just children, living their lives.  With a ventilator in tow.
         
        I will ask the little boy's mother if I can send you some pictures of the two of them on holiday if you think Una would like to see them.
         
        If it would help to talk to me privately Marie, or to get access to the Neuromuscular Team at Great Ormond St, my email address is anne@olennox. com and my numbers are 0207 3502803 or 07885 309753.  I promise I don't normally sounds as rabid as this email might do - I'm just enraged that anyone could begin to say that Nathan was not a priority for care.  Thank goodness he has such a wonderful mother and family
         
        With my very best wishes
        Anne Lennox
         
         

         Excerpt from RESEARCH INTERVIEW WITH

        PROFESSOR F MUNTONI, PROFESSOR OF PAEDIATRIC NEUROLOGY,

        IMPERIAL COLLEGE , LONDON

        AND ADVISOR TO MYOTUBULAR TRUST

        BY RORY CLEMENTS, HEALTH EDITOR OF

        THE LONDON EVENING STANDARD. 

        MAY 2006.

         

        Professor Muntoni is at pains to make it clear that his patients can have great lives, despite their disabilities. “A number of studies have found that the quality of life of severely disabled children is much better than the professionals – and parents – thought it would be. In fact, it’s not very different in terms of quality of life to that of children without physical disability.”

         

          He explains why this is so by asking me whether I am worried that I won’t be winning the Olympic Games this year. Of course I’m not worried – I have no ambitions in that direction. Running 10k on July 2nd will be quite tough enough for me. “Why are you not worried?” says Muntoni. “It’s because that’s not what you’re focusing on – you’re focusing on other things in life. But if you wanted to win the Marathon , maybe you would have been very depressed if you didn’t win – because that would have been the scope of your life. 

         

         “In the same way, the scope of these children is different. The engine has been running at a lower power from the beginning – so that is the level they are adjusted to, just as you are adjusted to a lower level than a Marathon runner without being any less happy.  These children can have a good, independent life – but they need help and they need to be prepared.”

         

         


        From: Myotubular_Myopathy @yahoogroups. com [mailto:Myotubular_ Myopathy@ yahoogroups. com] On Behalf Of coyle32
        Sent: 20 August 2009 09:36
        To: Myotubular_Myopathy @yahoogroups. com
        Subject: [Myotubular_ Myopathy] I need some help

         

        Hi, I haven't been in touch a lot recently but I do keep up with what is going on with you all. Nathan my grandson is now 3 a wonderful child. It took the doctors here in Northern Ireland 3 years to get a proper diagnosis for Nathan up to now they had him have a number of conditions. The funny thing is when he was a few months only I printed of the information you have and gave it to his doctors and they didn't want to know. Even now as Nathan had developed jaundice I told Una about information on your site regarding liver conditions linked to MTM x-linked and so they tested him for these but so far they have not come up for any reason for the Jaundice. Any way this is not the main problem. This week Nathans consultant seems to be "preparing" Una for the worst. Nathan did have a very bad winter last year and I do not doubt for one minute that he would not be here today if it was not for Una's knowledge of the condition and her son and also standing up to the doctors who did not want to put him in ICU as they needed the beds!! She has been told that they are running out of options and stopped just short of saying they would not intervene if Nathan got as bad again. He told her all about the preparations being made for the Swine Flu in the hospital and that Nathan would not be priority. Also she was told yesterday that they were in touch with Great Ormond Street Hospital for advice and were told that GOS policy was that they would not intubate or tube feed any child born with such a serve form of MTM and so they did not have any advice as they only dealt with milder forms. Apparently only in the USA would there be aggressive intervention. In other words Nathan only got treatment because they did not know what was wrong with him and they had no experience. Does this mean that if another child is born and they recognise the symptoms that that child would be left to die? Una herself said she has experienced this in the ward as Nathan was in hospital for 8 months and she seem quite a few parents of children with children who had rare conditions being told that nothing could be done. Una who has fought in Nathans corner seems now to be preparing to let him go on one hand and in the other feeling like a bad mother. She has one consultant who wants to push Nathan as far as he can go and another who thinks Nathans quality of life is more important and keeping him comfortable and happy. Does anyone have any thoughs on this? I know I am ranting a bit but It is so hard watching my daught go through this and we all love Nathan to bits but are not sure which way is the right thing for him. Una has been tested and she is a carrier, myself and 4 of my daughters are getting tested next week so it is all very emotive at the minute for all of us.



        Kind regars

        Marie
        Grandmother of Nathan age 3



      • Anne Lennox
        Dear Marie I m so sorry I wasn t able to get back to you as quickly this time-I was away for a few days but you, Una and Nathan have been on my mind all the
        Message 3 of 18 , Aug 24 2:47 PM
        • 0 Attachment
          Dear Marie
          I'm so sorry I wasn't able to get back to you as quickly this time-I was away for a few days but you, Una and Nathan have been on my mind all the time. 
           
          Firstly in answer to your question, can I just say you're absolutely making sense and not remotely weird.  You are getting double whammy aren't you - watching both your child and your grandchild go through so much.  I know that too from watching how much my parents suffered on my behalf, and still do.  Can I just reassure you, although you probably know this only too well, that as the mother we wouldn't change our lot for a moment.  Of course what you see Una going through is so so hard, but from my own perspective it was just an honour and a privilege to be Tom's mother.  I know you know all that already but I just, as you say, wanted to say the words out loud so you might find a little comfort.  And Una is so lucky to have your love - I know that many people with fragile children don't always get such unstinting support from those closest to them. She's a great girl by the sounds of it, and when we bring up our children we don't know what we're preparing them to face. You can know that you made her the strong girl she is and that all you've done for your own baby has made her the amazing mother to Nathan that she is today. 
           
          She really does sound like a powerhouse and it is frankly amazing that she kept Nathan out of hospital so much.  She's dead dead right to prevent him from being admitted unless they can prove they would do something in there that she can't do at home.  Does she get any help/respite care?  The thing that kept Tom out of hospital for me was having night nurses I could trust.  Getting a good night's sleep meant I could face the tough day of nursing ahead.  And night nurses will cost the NHS a lot less than an intensive care bed if they have any arguments about giving her respite support.  In some parts of the UK respite is provided by trained carers, but where we live in London, the Primary Care Trust insisted that Tom have senior paediatric nurses.  That made all the difference.
           
          The other things we did to keep Tom out of hospital was that in the winter we avoided flus and colds like a plague - we washed hands like mad, made it clear to our friends that although we loved them, we didn't want them to visit with the slightest hint of a cold. We figured that we only had to do this for a few years and no one decent minded in the least.  We also used lots of alternative remedies such as Echinacea and tons of vitamin C.  (you can get 1,000% of your recommended daily allowance of vitamin C in a teaspoon of a powder made by Biocare, and you can specifically get a non acidic one for their little tummies) Lots of the mothers I know with older boys say that after the first 2-3 winters, their boys had much much less colds and viruses.  So fingers crossed Nathan might have a good winter this year.
           
          Nathan sounds like he has a wonderful life - I wouldn't question it for a minute - you are all giving him the greatest greatest experiences.  Love is all you can hope for in life, a friend of ours who is Neonatal Consultant used to say.  He has seen so many babies and children and families go through so much and he has finally come to the conclusion that you can only measure life in giving and receiving love.  So, so, so many children have much lesser lives than Nathan, despite his mtm and you can only take it a day at a time. 
           
          If it would help, Una should ask to see Professor Muntoni and his team again. It won't 'cost' your local PCT anything as the Paediatric Neuromuscular team are one of those free referral resources that does not cross charge, so really there should be no reason for objection locally.  If the journey would be too much for Nathan, I bet he'd see Una on her own, maybe with a video of Nathan with her. He is also wonderful about responding by email, phone or letter.
           
          By the way, on the taking bloods, we made it clear that we would only allow three tries. 20 tries is nothing short of cruelty and absolutely no decent doctor who saw Nathan as an individual should ever allow that to happen to a small child.  Our 'only three tries' rule meant we always got a very experienced doctor or excellent nurse - we explained it very clearly and nicely of course but we were bloody minded about it.  (Well maybe most of the time I was nice.  The junior doctor who told me that Tom's gastrostomy operation wouldn't go ahead when I asked her what would happen if she couldn't get the blood, got thrown out of the bloods room unceremoniously!) The other way to get blood from our littel pets is via the jugular vein.  It looks awful and only 'older' doctors probably have the experience to do it, but it is immensely effective and fast, and clearly doesn't hurt much at all partly I suppose because it is over in an instant.  The vial fills up in less than a second, no exaggeration.
           
          Anyway Marie I have now rambled all over the place.  My heart goes out to you all and I send you the very very best wishes as you all face teh winter. If I can help with anything over here, let me know. 
           
          With lots of love to you all
          Anne (and Andrew, Sophie, Rory...and Tom of course!)
           
           
           
           
          xxxx
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
           
          Anne Lennox
          020 7350 2803
           


          From: Myotubular_Myopathy@yahoogroups.com [mailto:Myotubular_Myopathy@yahoogroups.com] On Behalf Of Marie Hanratty
          Sent: 20 August 2009 13:08
          To: Myotubular_Myopathy@yahoogroups.com
          Subject: Re: [Myotubular_Myopathy] I need some help

           

          Hi Anne Thanks for answering so quickly.  Nathan went over to Great Ormond Street Hospital about 18 months ago at Una's insistence.  Nathan got the opportunity to see professor Muntoni at that time and I do agree he is a great man.  He was very positive about Nathan and made some suggestions to help improve things for Nathan including putting in a larger tracky (up to 4.5) and fitting a peg tube to get him of the NG tube which I believe should have reduced his secretions by up to 70%, He also said he hoped he would see Nathan when he was 5, 10 and above.  But Nathan is not under the GOS jurisdiction so there are no plans for him to go back and Una had to come home and give the recommendation to her Doctors here.  Nathan has had all these things done and he did seem to improve for a while. Last week the put a 5 tracky in but even with a patch his secretions are going mad.  As to the Royal their argument is that they at times have had to send children to other hospital in Dublin and in other parts of GB because of a shortage of beds in their ICU and in a case like that priority would be given to those likely to survive (this is not just in the case of swine flu but all the time) .  We faced this last year when Nathan when in with a chest infection and with in days he had picked up 5 different virus's in the ward.  Una would not leave his bedside and even then poor Nathans little body began to give up under the pressure.  If it was not that she is articulate and quite bossy he would have dies that day and after 2 weeks in ICU and a week back down on the ward he came home.  I have to say Una before that would never let Nathan go into hospital if she could nurse him at home so it was the first time that he needed hospital intervention since he was born and she now hates hospitals and when Nathan developed Jauntice last week she would not let them admit him unless they were going to treat him in some way that she could not do at home as she is so afraid of him catching something leathal in the hospital.
            Nathan enjoys life Una does not let his vast amount of equipment deter her from taking him anywhere and she makes sure he he has fun.  He started Nursery in April and loved it, unfortunately because he was so ill last winter he only got 2 months at school before they broke up for the summer but he still got a chance to take part in the sports day.His dad takes him to the local football every saturday and he is the team mascot and crazy about football.
            I think my worry is that last winter was very hard on Una,Stephen and Nathan and she can see he has deteroiated quite a bit this year.  She is worried that she is pushing so hard to get him help but is wondering if it is fair to put him through so much. I know this is a question all people who watch a loved one suffer faces, I know my mother had a long horrible death and by the time she died it was a blessing so I do recognise what she is saying "can she put him through it again?  am I making sense I don't know.  Personally I feel that the concentration should be on improving he quality of life, making it fun and enjoyable and less on pushing him to see how far he can go, I don;t know if that is wrong but he is so small and frail to always be going through tests like yesterday they took 20mils of blood and as his veins kept collapsing they put the needle in nearly 20 times and he was silently crying all the time and it broke Una's heart to stand and watch this. His bones have started to break so this year alone he has had 3 broken legs and 2 broken arms without having any sort of an accident because they say he has osteoporosis. I know I am being emotional about this but I can't bear watching my baby suffer as she watches her baby suffer because i feel helpless and cannot protect either of them.  I suppose I just needed to say it out loud. Do you recognise these feeling or am I being weird.
           
          thank you for listening anyway I really appriciate it
           
          Marie
          Grandmother of Nathan age 3


          From: Anne Lennox <anne@olennox. com>
          To: Myotubular_Myopathy @yahoogroups. com
          Sent: Thursday, 20 August, 2009 11:50:15
          Subject: RE: [Myotubular_ Myopathy] I need some help

           

          Dear Marie
          I have read your email with huge shock and devastation for your family. I simply cannot believe how Nathan is being treated - the things these doctors are saying is OUTRAGEOUS.  I'm Irish too but live in London and so have had a son with mtm under the care of the NHS too, and what you're being told is not 'standard practice'.  My son Tom died of mtm in 2007 but until then (he was nearly 4 years old) every medic we dealt with in London with experience of mtm was willing to support us and him 100%.  Professor Muntoni the head of the Dubowitz Neuromuscular Centre at Great Ormond St was Tom's consultant from the minute he was diagnosed.  He is an extraordinary man who treats these boys with the greatest amount of respect - I simply have never met anyone like him.  Even in the last months of Tom's life, after an airway blockage had caused irreversible brain damage and he was clearly not going to survive, Professor Muntoni came out here to our house to see him and blew me away with the dignity with which he treated him. The idea that his team would say not to intubate or tube feed a boy with severe MTM seems preposterous to me.  Tom did seem to have a milder form because he could breathe very well on his own, but his bulbar function was dreadful and he was always tube fed.  But in my experience I just cannot imagine the team under Professor Muntoni saying that they had 'a policy not to intubate or tube feed'
           
          I am a founder of the Myotubular Trust the charity that raises funds in the UK and  Europe for mtm/cnm and when we first set it up in 2006 we had Professor Muntoni interviewed by a journalist friend of mine who was in charge of Health for the Evening Standard at the time as we wanted to convey to 'non-family' fundraisers why there was hope for these boys.  You can find the full article on this page of our site http://www.myotubul artrust.com/ page4.htm.  Scroll to the bottom and press the 'Research interview' link. But in case you can't access it, I've pasted in an excerpt at the end of this email, just to show you what Prof M thinks of these boys quality of life.
           
          And as for Nathan not being a priority for swine flu treatment that is beyond shocking.  A couple of weeks ago my one year old boy seemed to have swine flu symptoms and in talking about whether he needed Tamiflu with my GP, her point was that 'ordinary' children (Rory doesn't have MTM) did not need all this excitement and intervention. By way of illustration, she was saying to me that if Tom was alive it would be to him that every single kind of support and intervention would be directed. It was never in any doubt to any of Tom's medics that his life was worth living beyond measure. 
           
          This summer we went to Norfolk for a week's holiday. We chose to go there because my 9 year old daughter Sophie really wanted to see someone else who was going on holiday there....a little boy, also of 9, who had mtm.  This little boy is on a ventilator, tube fed....and a total joy to be with. He's happy, smiley, cheeky, gentle, beautiful.  He goes to mainstream school, is really into animals, loves books about 'facts', used to have mice as pets... and my daughter still thinks, 2 years after Tom died, that mtm boys are so much 'better than ordinary boys'.  We went with this little boy and his parents a) on a boat on the Norfolk Broads, b) to the seaside where he tried FIVE different flavours of ice cream - because if you're tube fed you deserve to be allowed taste lots of ice creams!, c) on a fairground ride, d) on a road train by the sea, e) rock picking (and yes of course he stayed up on the slipway and Sophie ran up and down picking stones - but they'd both be very surprised if anyone suggested they were having less than a good time), f) to an amusement arcade g) to a radar museum, h) played chase, harassed other tourists by racing around on the wheelchair, Sophie standing on the back and the little boy going at full speed.  And like all 9 year olds, they both had to be called back 3 or 4 times to be given a good telling off!... you get my drift!  Just children, living their lives.  With a ventilator in tow.
           
          I will ask the little boy's mother if I can send you some pictures of the two of them on holiday if you think Una would like to see them.
           
          If it would help to talk to me privately Marie, or to get access to the Neuromuscular Team at Great Ormond St, my email address is anne@olennox. com and my numbers are 0207 3502803 or 07885 309753.  I promise I don't normally sounds as rabid as this email might do - I'm just enraged that anyone could begin to say that Nathan was not a priority for care.  Thank goodness he has such a wonderful mother and family
           
          With my very best wishes
          Anne Lennox
           
           

           Excerpt from RESEARCH INTERVIEW WITH

          PROFESSOR F MUNTONI, PROFESSOR OF PAEDIATRIC NEUROLOGY,

          IMPERIAL COLLEGE , LONDON

          AND ADVISOR TO MYOTUBULAR TRUST

          BY RORY CLEMENTS, HEALTH EDITOR OF

          THE LONDON EVENING STANDARD. 

          MAY 2006.

           

          Professor Muntoni is at pains to make it clear that his patients can have great lives, despite their disabilities. “A number of studies have found that the quality of life of severely disabled children is much better than the professionals – and parents – thought it would be. In fact, it’s not very different in terms of quality of life to that of children without physical disability.”

           

            He explains why this is so by asking me whether I am worried that I won’t be winning the Olympic Games this year. Of course I’m not worried – I have no ambitions in that direction. Running 10k on July 2nd will be quite tough enough for me. “Why are you not worried?” says Muntoni. “It’s because that’s not what you’re focusing on – you’re focusing on other things in life. But if you wanted to win the Marathon , maybe you would have been very depressed if you didn’t win – because that would have been the scope of your life. 

           

           “In the same way, the scope of these children is different. The engine has been running at a lower power from the beginning – so that is the level they are adjusted to, just as you are adjusted to a lower level than a Marathon runner without being any less happy.  These children can have a good, independent life – but they need help and they need to be prepared.”

           

           


          From: Myotubular_Myopathy @yahoogroups. com [mailto:Myotubular_ Myopathy@ yahoogroups. com] On Behalf Of coyle32
          Sent: 20 August 2009 09:36
          To: Myotubular_Myopathy @yahoogroups. com
          Subject: [Myotubular_ Myopathy] I need some help

           

          Hi, I haven't been in touch a lot recently but I do keep up with what is going on with you all. Nathan my grandson is now 3 a wonderful child. It took the doctors here in Northern Ireland 3 years to get a proper diagnosis for Nathan up to now they had him have a number of conditions. The funny thing is when he was a few months only I printed of the information you have and gave it to his doctors and they didn't want to know. Even now as Nathan had developed jaundice I told Una about information on your site regarding liver conditions linked to MTM x-linked and so they tested him for these but so far they have not come up for any reason for the Jaundice. Any way this is not the main problem. This week Nathans consultant seems to be "preparing" Una for the worst. Nathan did have a very bad winter last year and I do not doubt for one minute that he would not be here today if it was not for Una's knowledge of the condition and her son and also standing up to the doctors who did not want to put him in ICU as they needed the beds!! She has been told that they are running out of options and stopped just short of saying they would not intervene if Nathan got as bad again. He told her all about the preparations being made for the Swine Flu in the hospital and that Nathan would not be priority. Also she was told yesterday that they were in touch with Great Ormond Street Hospital for advice and were told that GOS policy was that they would not intubate or tube feed any child born with such a serve form of MTM and so they did not have any advice as they only dealt with milder forms. Apparently only in the USA would there be aggressive intervention. In other words Nathan only got treatment because they did not know what was wrong with him and they had no experience. Does this mean that if another child is born and they recognise the symptoms that that child would be left to die? Una herself said she has experienced this in the ward as Nathan was in hospital for 8 months and she seem quite a few parents of children with children who had rare conditions being told that nothing could be done. Una who has fought in Nathans corner seems now to be preparing to let him go on one hand and in the other feeling like a bad mother. She has one consultant who wants to push Nathan as far as he can go and another who thinks Nathans quality of life is more important and keeping him comfortable and happy. Does anyone have any thoughs on this? I know I am ranting a bit but It is so hard watching my daught go through this and we all love Nathan to bits but are not sure which way is the right thing for him. Una has been tested and she is a carrier, myself and 4 of my daughters are getting tested next week so it is all very emotive at the minute for all of us.

          Kind regars

          Marie
          Grandmother of Nathan age 3


        • Anne Lennox
          looks like our emails crossed over. Of course you can give my number to Nathan s consultant. Tom never had jaundice so my personal experience of that is
          Message 4 of 18 , Aug 25 3:04 AM
          • 0 Attachment
            looks like our emails crossed over.  Of course you can give my number to Nathan's consultant.  Tom never had jaundice so my personal experience of that is limited, other than having heard exactly what Betsy's email said - a number of children have had it and it seems to have gone away.  I can't understand who your consultant is talking to at Great Ormond St.  They only have experience of milder cases????  That's simply crazy.  I'll try in the meantime to track down some of the other doctors I know.  Is your private email address coyle32@...? I'll copy you in on any emails
            x
             


            From: Myotubular_Myopathy@yahoogroups.com [mailto:Myotubular_Myopathy@yahoogroups.com] On Behalf Of Marie Hanratty
            Sent: 24 August 2009 22:12
            To: Myotubular_Myopathy@yahoogroups.com
            Subject: Re: [Myotubular_Myopathy] I need some help

             

            Thank you Anne for your understanding.  I spoke to Nathans consultant tonight and she is very keen to talk to someone about Nathans Jandice as so far they are not able to find a reason for it.  She had talked to someone in Great Ormond st but she was able to tel me that Professor Muntoni is on hospital and the dr she spoke to said they only had experience of miler cases so she was consideringtrying to find out who to contact in the states.  Would it b ok if I give her your number as you might have some useful numbers for her?


            From: Anne Lennox <anne@olennox. com>
            To: Myotubular_Myopathy @yahoogroups. com
            Sent: Thursday, 20 August, 2009 11:50:15
            Subject: RE: [Myotubular_ Myopathy] I need some help

             

            Dear Marie
            I have read your email with huge shock and devastation for your family. I simply cannot believe how Nathan is being treated - the things these doctors are saying is OUTRAGEOUS.  I'm Irish too but live in London and so have had a son with mtm under the care of the NHS too, and what you're being told is not 'standard practice'.  My son Tom died of mtm in 2007 but until then (he was nearly 4 years old) every medic we dealt with in London with experience of mtm was willing to support us and him 100%.  Professor Muntoni the head of the Dubowitz Neuromuscular Centre at Great Ormond St was Tom's consultant from the minute he was diagnosed.  He is an extraordinary man who treats these boys with the greatest amount of respect - I simply have never met anyone like him.  Even in the last months of Tom's life, after an airway blockage had caused irreversible brain damage and he was clearly not going to survive, Professor Muntoni came out here to our house to see him and blew me away with the dignity with which he treated him. The idea that his team would say not to intubate or tube feed a boy with severe MTM seems preposterous to me.  Tom did seem to have a milder form because he could breathe very well on his own, but his bulbar function was dreadful and he was always tube fed.  But in my experience I just cannot imagine the team under Professor Muntoni saying that they had 'a policy not to intubate or tube feed'
             
            I am a founder of the Myotubular Trust the charity that raises funds in the UK and  Europe for mtm/cnm and when we first set it up in 2006 we had Professor Muntoni interviewed by a journalist friend of mine who was in charge of Health for the Evening Standard at the time as we wanted to convey to 'non-family' fundraisers why there was hope for these boys.  You can find the full article on this page of our site http://www.myotubul artrust.com/ page4.htm.  Scroll to the bottom and press the 'Research interview' link. But in case you can't access it, I've pasted in an excerpt at the end of this email, just to show you what Prof M thinks of these boys quality of life.
             
            And as for Nathan not being a priority for swine flu treatment that is beyond shocking.  A couple of weeks ago my one year old boy seemed to have swine flu symptoms and in talking about whether he needed Tamiflu with my GP, her point was that 'ordinary' children (Rory doesn't have MTM) did not need all this excitement and intervention. By way of illustration, she was saying to me that if Tom was alive it would be to him that every single kind of support and intervention would be directed. It was never in any doubt to any of Tom's medics that his life was worth living beyond measure. 
             
            This summer we went to Norfolk for a week's holiday. We chose to go there because my 9 year old daughter Sophie really wanted to see someone else who was going on holiday there....a little boy, also of 9, who had mtm.  This little boy is on a ventilator, tube fed....and a total joy to be with. He's happy, smiley, cheeky, gentle, beautiful.  He goes to mainstream school, is really into animals, loves books about 'facts', used to have mice as pets... and my daughter still thinks, 2 years after Tom died, that mtm boys are so much 'better than ordinary boys'.  We went with this little boy and his parents a) on a boat on the Norfolk Broads, b) to the seaside where he tried FIVE different flavours of ice cream - because if you're tube fed you deserve to be allowed taste lots of ice creams!, c) on a fairground ride, d) on a road train by the sea, e) rock picking (and yes of course he stayed up on the slipway and Sophie ran up and down picking stones - but they'd both be very surprised if anyone suggested they were having less than a good time), f) to an amusement arcade g) to a radar museum, h) played chase, harassed other tourists by racing around on the wheelchair, Sophie standing on the back and the little boy going at full speed.  And like all 9 year olds, they both had to be called back 3 or 4 times to be given a good telling off!... you get my drift!  Just children, living their lives.  With a ventilator in tow.
             
            I will ask the little boy's mother if I can send you some pictures of the two of them on holiday if you think Una would like to see them.
             
            If it would help to talk to me privately Marie, or to get access to the Neuromuscular Team at Great Ormond St, my email address is anne@olennox. com and my numbers are 0207 3502803 or 07885 309753.  I promise I don't normally sounds as rabid as this email might do - I'm just enraged that anyone could begin to say that Nathan was not a priority for care.  Thank goodness he has such a wonderful mother and family
             
            With my very best wishes
            Anne Lennox
             
             

             Excerpt from RESEARCH INTERVIEW WITH

            PROFESSOR F MUNTONI, PROFESSOR OF PAEDIATRIC NEUROLOGY,

            IMPERIAL COLLEGE , LONDON

            AND ADVISOR TO MYOTUBULAR TRUST

            BY RORY CLEMENTS, HEALTH EDITOR OF

            THE LONDON EVENING STANDARD. 

            MAY 2006.

             

            Professor Muntoni is at pains to make it clear that his patients can have great lives, despite their disabilities. “A number of studies have found that the quality of life of severely disabled children is much better than the professionals – and parents – thought it would be. In fact, it’s not very different in terms of quality of life to that of children without physical disability.”

             

              He explains why this is so by asking me whether I am worried that I won’t be winning the Olympic Games this year. Of course I’m not worried – I have no ambitions in that direction. Running 10k on July 2nd will be quite tough enough for me. “Why are you not worried?” says Muntoni. “It’s because that’s not what you’re focusing on – you’re focusing on other things in life. But if you wanted to win the Marathon , maybe you would have been very depressed if you didn’t win – because that would have been the scope of your life. 

             

             “In the same way, the scope of these children is different. The engine has been running at a lower power from the beginning – so that is the level they are adjusted to, just as you are adjusted to a lower level than a Marathon runner without being any less happy.  These children can have a good, independent life – but they need help and they need to be prepared.”

             

             


            From: Myotubular_Myopathy @yahoogroups. com [mailto:Myotubular_ Myopathy@ yahoogroups. com] On Behalf Of coyle32
            Sent: 20 August 2009 09:36
            To: Myotubular_Myopathy @yahoogroups. com
            Subject: [Myotubular_ Myopathy] I need some help

             

            Hi, I haven't been in touch a lot recently but I do keep up with what is going on with you all. Nathan my grandson is now 3 a wonderful child. It took the doctors here in Northern Ireland 3 years to get a proper diagnosis for Nathan up to now they had him have a number of conditions. The funny thing is when he was a few months only I printed of the information you have and gave it to his doctors and they didn't want to know. Even now as Nathan had developed jaundice I told Una about information on your site regarding liver conditions linked to MTM x-linked and so they tested him for these but so far they have not come up for any reason for the Jaundice. Any way this is not the main problem. This week Nathans consultant seems to be "preparing" Una for the worst. Nathan did have a very bad winter last year and I do not doubt for one minute that he would not be here today if it was not for Una's knowledge of the condition and her son and also standing up to the doctors who did not want to put him in ICU as they needed the beds!! She has been told that they are running out of options and stopped just short of saying they would not intervene if Nathan got as bad again. He told her all about the preparations being made for the Swine Flu in the hospital and that Nathan would not be priority. Also she was told yesterday that they were in touch with Great Ormond Street Hospital for advice and were told that GOS policy was that they would not intubate or tube feed any child born with such a serve form of MTM and so they did not have any advice as they only dealt with milder forms. Apparently only in the USA would there be aggressive intervention. In other words Nathan only got treatment because they did not know what was wrong with him and they had no experience. Does this mean that if another child is born and they recognise the symptoms that that child would be left to die? Una herself said she has experienced this in the ward as Nathan was in hospital for 8 months and she seem quite a few parents of children with children who had rare conditions being told that nothing could be done. Una who has fought in Nathans corner seems now to be preparing to let him go on one hand and in the other feeling like a bad mother. She has one consultant who wants to push Nathan as far as he can go and another who thinks Nathans quality of life is more important and keeping him comfortable and happy. Does anyone have any thoughs on this? I know I am ranting a bit but It is so hard watching my daught go through this and we all love Nathan to bits but are not sure which way is the right thing for him. Una has been tested and she is a carrier, myself and 4 of my daughters are getting tested next week so it is all very emotive at the minute for all of us.

            Kind regars

            Marie
            Grandmother of Nathan age 3


          • Aminah Hart
            Dear Anne Your email is directed Marie but your words of wisdom and experience are so valuable to me also, thank you.   I think the three strikes and you re
            Message 5 of 18 , Aug 25 3:45 AM
            • 0 Attachment
              Dear Anne

              Your email is directed Marie but your words of wisdom and experience are so valuable to me also, thank you.  

              I think the three strikes and you're out rule for bloods is gold.  Louis had just come home from 2 weeks in ICU and I was tearing my hair out every time they had to take blood from him.  For a baby with a weak cry and collapsed lungs my goodness my poor baby was wailing, it's crushing...

              Marie, I have read your words with heavy heart, they ring so natural and true for a mother/grandmother and indeed my own mother echoed many of your thoughts and feelings as I nursed and ultimately lost my darling Marlon and again now as I fight the good fight with my beautiful little Louis. Please know you are in our thoughts.  If it would help at all to "chat" with with my mum Helen online, all the way over here in Australia, please just say the word and I'll put you in touch with her.

              Aminah

              --- On Tue, 25/8/09, Anne Lennox <anne@...> wrote:

              From: Anne Lennox <anne@...>
              Subject: RE: [Myotubular_Myopathy] I need some help
              To: Myotubular_Myopathy@yahoogroups.com
              Received: Tuesday, 25 August, 2009, 7:47 AM

               

              Dear Marie
              I'm so sorry I wasn't able to get back to you as quickly this time-I was away for a few days but you, Una and Nathan have been on my mind all the time. 
               
              Firstly in answer to your question, can I just say you're absolutely making sense and not remotely weird.  You are getting double whammy aren't you - watching both your child and your grandchild go through so much.  I know that too from watching how much my parents suffered on my behalf, and still do.  Can I just reassure you, although you probably know this only too well, that as the mother we wouldn't change our lot for a moment.  Of course what you see Una going through is so so hard, but from my own perspective it was just an honour and a privilege to be Tom's mother.  I know you know all that already but I just, as you say, wanted to say the words out loud so you might find a little comfort.  And Una is so lucky to have your love - I know that many people with fragile children don't always get such unstinting support from those closest to them. She's a great girl by the sounds of it, and when we bring up our children we don't know what we're preparing them to face. You can know that you made her the strong girl she is and that all you've done for your own baby has made her the amazing mother to Nathan that she is today. 
               
              She really does sound like a powerhouse and it is frankly amazing that she kept Nathan out of hospital so much.  She's dead dead right to prevent him from being admitted unless they can prove they would do something in there that she can't do at home.  Does she get any help/respite care?  The thing that kept Tom out of hospital for me was having night nurses I could trust.  Getting a good night's sleep meant I could face the tough day of nursing ahead.  And night nurses will cost the NHS a lot less than an intensive care bed if they have any arguments about giving her respite support.  In some parts of the UK respite is provided by trained carers, but where we live in London, the Primary Care Trust insisted that Tom have senior paediatric nurses.  That made all the difference.
               
              The other things we did to keep Tom out of hospital was that in the winter we avoided flus and colds like a plague - we washed hands like mad, made it clear to our friends that although we loved them, we didn't want them to visit with the slightest hint of a cold. We figured that we only had to do this for a few years and no one decent minded in the least.  We also used lots of alternative remedies such as Echinacea and tons of vitamin C.  (you can get 1,000% of your recommended daily allowance of vitamin C in a teaspoon of a powder made by Biocare, and you can specifically get a non acidic one for their little tummies) Lots of the mothers I know with older boys say that after the first 2-3 winters, their boys had much much less colds and viruses.  So fingers crossed Nathan might have a good winter this year.
               
              Nathan sounds like he has a wonderful life - I wouldn't question it for a minute - you are all giving him the greatest greatest experiences.  Love is all you can hope for in life, a friend of ours who is Neonatal Consultant used to say.  He has seen so many babies and children and families go through so much and he has finally come to the conclusion that you can only measure life in giving and receiving love.  So, so, so many children have much lesser lives than Nathan, despite his mtm and you can only take it a day at a time. 
               
              If it would help, Una should ask to see Professor Muntoni and his team again. It won't 'cost' your local PCT anything as the Paediatric Neuromuscular team are one of those free referral resources that does not cross charge, so really there should be no reason for objection locally.  If the journey would be too much for Nathan, I bet he'd see Una on her own, maybe with a video of Nathan with her. He is also wonderful about responding by email, phone or letter.
               
              By the way, on the taking bloods, we made it clear that we would only allow three tries. 20 tries is nothing short of cruelty and absolutely no decent doctor who saw Nathan as an individual should ever allow that to happen to a small child.  Our 'only three tries' rule meant we always got a very experienced doctor or excellent nurse - we explained it very clearly and nicely of course but we were bloody minded about it.  (Well maybe most of the time I was nice.  The junior doctor who told me that Tom's gastrostomy operation wouldn't go ahead when I asked her what would happen if she couldn't get the blood, got thrown out of the bloods room unceremoniously! ) The other way to get blood from our littel pets is via the jugular vein.  It looks awful and only 'older' doctors probably have the experience to do it, but it is immensely effective and fast, and clearly doesn't hurt much at all partly I suppose because it is over in an instant.  The vial fills up in less than a second, no exaggeration.
               
              Anyway Marie I have now rambled all over the place.  My heart goes out to you all and I send you the very very best wishes as you all face teh winter. If I can help with anything over here, let me know. 
               
              With lots of love to you all
              Anne (and Andrew, Sophie, Rory...and Tom of course!)
               
               
               
               
              xxxx
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
               
              Anne Lennox
              020 7350 2803
               


              From: Myotubular_Myopathy @yahoogroups. com [mailto:Myotubular_ Myopathy@ yahoogroups. com] On Behalf Of Marie Hanratty
              Sent: 20 August 2009 13:08
              To: Myotubular_Myopathy @yahoogroups. com
              Subject: Re: [Myotubular_ Myopathy] I need some help

               

              Hi Anne Thanks for answering so quickly.  Nathan went over to Great Ormond Street Hospital about 18 months ago at Una's insistence.  Nathan got the opportunity to see professor Muntoni at that time and I do agree he is a great man.  He was very positive about Nathan and made some suggestions to help improve things for Nathan including putting in a larger tracky (up to 4.5) and fitting a peg tube to get him of the NG tube which I believe should have reduced his secretions by up to 70%, He also said he hoped he would see Nathan when he was 5, 10 and above.  But Nathan is not under the GOS jurisdiction so there are no plans for him to go back and Una had to come home and give the recommendation to her Doctors here.  Nathan has had all these things done and he did seem to improve for a while. Last week the put a 5 tracky in but even with a patch his secretions are going mad.  As to the Royal their argument is that they at times have had to send children to other hospital in Dublin and in other parts of GB because of a shortage of beds in their ICU and in a case like that priority would be given to those likely to survive (this is not just in the case of swine flu but all the time) .  We faced this last year when Nathan when in with a chest infection and with in days he had picked up 5 different virus's in the ward.  Una would not leave his bedside and even then poor Nathans little body began to give up under the pressure.  If it was not that she is articulate and quite bossy he would have dies that day and after 2 weeks in ICU and a week back down on the ward he came home.  I have to say Una before that would never let Nathan go into hospital if she could nurse him at home so it was the first time that he needed hospital intervention since he was born and she now hates hospitals and when Nathan developed Jauntice last week she would not let them admit him unless they were going to treat him in some way that she could not do at home as she is so afraid of him catching something leathal in the hospital.
                Nathan enjoys life Una does not let his vast amount of equipment deter her from taking him anywhere and she makes sure he he has fun.  He started Nursery in April and loved it, unfortunately because he was so ill last winter he only got 2 months at school before they broke up for the summer but he still got a chance to take part in the sports day.His dad takes him to the local football every saturday and he is the team mascot and crazy about football.
                I think my worry is that last winter was very hard on Una,Stephen and Nathan and she can see he has deteroiated quite a bit this year.  She is worried that she is pushing so hard to get him help but is wondering if it is fair to put him through so much. I know this is a question all people who watch a loved one suffer faces, I know my mother had a long horrible death and by the time she died it was a blessing so I do recognise what she is saying "can she put him through it again?  am I making sense I don't know.  Personally I feel that the concentration should be on improving he quality of life, making it fun and enjoyable and less on pushing him to see how far he can go, I don;t know if that is wrong but he is so small and frail to always be going through tests like yesterday they took 20mils of blood and as his veins kept collapsing they put the needle in nearly 20 times and he was silently crying all the time and it broke Una's heart to stand and watch this. His bones have started to break so this year alone he has had 3 broken legs and 2 broken arms without having any sort of an accident because they say he has osteoporosis. I know I am being emotional about this but I can't bear watching my baby suffer as she watches her baby suffer because i feel helpless and cannot protect either of them.  I suppose I just needed to say it out loud. Do you recognise these feeling or am I being weird.
               
              thank you for listening anyway I really appriciate it
               
              Marie
              Grandmother of Nathan age 3


              From: Anne Lennox <anne@olennox. com>
              To: Myotubular_Myopathy @yahoogroups. com
              Sent: Thursday, 20 August, 2009 11:50:15
              Subject: RE: [Myotubular_ Myopathy] I need some help

               

              Dear Marie
              I have read your email with huge shock and devastation for your family. I simply cannot believe how Nathan is being treated - the things these doctors are saying is OUTRAGEOUS.  I'm Irish too but live in London and so have had a son with mtm under the care of the NHS too, and what you're being told is not 'standard practice'.  My son Tom died of mtm in 2007 but until then (he was nearly 4 years old) every medic we dealt with in London with experience of mtm was willing to support us and him 100%.  Professor Muntoni the head of the Dubowitz Neuromuscular Centre at Great Ormond St was Tom's consultant from the minute he was diagnosed.  He is an extraordinary man who treats these boys with the greatest amount of respect - I simply have never met anyone like him.  Even in the last months of Tom's life, after an airway blockage had caused irreversible brain damage and he was clearly not going to survive, Professor Muntoni came out here to our house to see him and blew me away with the dignity with which he treated him. The idea that his team would say not to intubate or tube feed a boy with severe MTM seems preposterous to me.  Tom did seem to have a milder form because he could breathe very well on his own, but his bulbar function was dreadful and he was always tube fed.  But in my experience I just cannot imagine the team under Professor Muntoni saying that they had 'a policy not to intubate or tube feed'
               
              I am a founder of the Myotubular Trust the charity that raises funds in the UK and  Europe for mtm/cnm and when we first set it up in 2006 we had Professor Muntoni interviewed by a journalist friend of mine who was in charge of Health for the Evening Standard at the time as we wanted to convey to 'non-family' fundraisers why there was hope for these boys.  You can find the full article on this page of our site http://www.myotubul artrust.com/ page4.htm.  Scroll to the bottom and press the 'Research interview' link. But in case you can't access it, I've pasted in an excerpt at the end of this email, just to show you what Prof M thinks of these boys quality of life.
               
              And as for Nathan not being a priority for swine flu treatment that is beyond shocking.  A couple of weeks ago my one year old boy seemed to have swine flu symptoms and in talking about whether he needed Tamiflu with my GP, her point was that 'ordinary' children (Rory doesn't have MTM) did not need all this excitement and intervention. By way of illustration, she was saying to me that if Tom was alive it would be to him that every single kind of support and intervention would be directed. It was never in any doubt to any of Tom's medics that his life was worth living beyond measure. 
               
              This summer we went to Norfolk for a week's holiday. We chose to go there because my 9 year old daughter Sophie really wanted to see someone else who was going on holiday there....a little boy, also of 9, who had mtm.  This little boy is on a ventilator, tube fed....and a total joy to be with. He's happy, smiley, cheeky, gentle, beautiful.  He goes to mainstream school, is really into animals, loves books about 'facts', used to have mice as pets... and my daughter still thinks, 2 years after Tom died, that mtm boys are so much 'better than ordinary boys'.  We went with this little boy and his parents a) on a boat on the Norfolk Broads, b) to the seaside where he tried FIVE different flavours of ice cream - because if you're tube fed you deserve to be allowed taste lots of ice creams!, c) on a fairground ride, d) on a road train by the sea, e) rock picking (and yes of course he stayed up on the slipway and Sophie ran up and down picking stones - but they'd both be very surprised if anyone suggested they were having less than a good time), f) to an amusement arcade g) to a radar museum, h) played chase, harassed other tourists by racing around on the wheelchair, Sophie standing on the back and the little boy going at full speed.  And like all 9 year olds, they both had to be called back 3 or 4 times to be given a good telling off!... you get my drift!  Just children, living their lives.  With a ventilator in tow.
               
              I will ask the little boy's mother if I can send you some pictures of the two of them on holiday if you think Una would like to see them.
               
              If it would help to talk to me privately Marie, or to get access to the Neuromuscular Team at Great Ormond St, my email address is anne@olennox. com and my numbers are 0207 3502803 or 07885 309753.  I promise I don't normally sounds as rabid as this email might do - I'm just enraged that anyone could begin to say that Nathan was not a priority for care.  Thank goodness he has such a wonderful mother and family
               
              With my very best wishes
              Anne Lennox
               
               

               Excerpt from RESEARCH INTERVIEW WITH

              PROFESSOR F MUNTONI, PROFESSOR OF PAEDIATRIC NEUROLOGY,

              IMPERIAL COLLEGE , LONDON

              AND ADVISOR TO MYOTUBULAR TRUST

              BY RORY CLEMENTS, HEALTH EDITOR OF

              THE LONDON EVENING STANDARD. 

              MAY 2006.

               

              Professor Muntoni is at pains to make it clear that his patients can have great lives, despite their disabilities. “A number of studies have found that the quality of life of severely disabled children is much better than the professionals – and parents – thought it would be. In fact, it’s not very different in terms of quality of life to that of children without physical disability.”

               

                He explains why this is so by asking me whether I am worried that I won’t be winning the Olympic Games this year. Of course I’m not worried – I have no ambitions in that direction. Running 10k on July 2nd will be quite tough enough for me. “Why are you not worried?” says Muntoni. “It’s because that’s not what you’re focusing on – you’re focusing on other things in life. But if you wanted to win the Marathon , maybe you would have been very depressed if you didn’t win – because that would have been the scope of your life. 

               

               “In the same way, the scope of these children is different. The engine has been running at a lower power from the beginning – so that is the level they are adjusted to, just as you are adjusted to a lower level than a Marathon runner without being any less happy.  These children can have a good, independent life – but they need help and they need to be prepared.”

               

               


              From: Myotubular_Myopathy @yahoogroups. com [mailto:Myotubular_ Myopathy@ yahoogroups. com] On Behalf Of coyle32
              Sent: 20 August 2009 09:36
              To: Myotubular_Myopathy @yahoogroups. com
              Subject: [Myotubular_ Myopathy] I need some help

               

              Hi, I haven't been in touch a lot recently but I do keep up with what is going on with you all. Nathan my grandson is now 3 a wonderful child. It took the doctors here in Northern Ireland 3 years to get a proper diagnosis for Nathan up to now they had him have a number of conditions. The funny thing is when he was a few months only I printed of the information you have and gave it to his doctors and they didn't want to know. Even now as Nathan had developed jaundice I told Una about information on your site regarding liver conditions linked to MTM x-linked and so they tested him for these but so far they have not come up for any reason for the Jaundice. Any way this is not the main problem. This week Nathans consultant seems to be "preparing" Una for the worst. Nathan did have a very bad winter last year and I do not doubt for one minute that he would not be here today if it was not for Una's knowledge of the condition and her son and also standing up to the doctors who did not want to put him in ICU as they needed the beds!! She has been told that they are running out of options and stopped just short of saying they would not intervene if Nathan got as bad again. He told her all about the preparations being made for the Swine Flu in the hospital and that Nathan would not be priority. Also she was told yesterday that they were in touch with Great Ormond Street Hospital for advice and were told that GOS policy was that they would not intubate or tube feed any child born with such a serve form of MTM and so they did not have any advice as they only dealt with milder forms. Apparently only in the USA would there be aggressive intervention. In other words Nathan only got treatment because they did not know what was wrong with him and they had no experience. Does this mean that if another child is born and they recognise the symptoms that that child would be left to die? Una herself said she has experienced this in the ward as Nathan was in hospital for 8 months and she seem quite a few parents of children with children who had rare conditions being told that nothing could be done. Una who has fought in Nathans corner seems now to be preparing to let him go on one hand and in the other feeling like a bad mother. She has one consultant who wants to push Nathan as far as he can go and another who thinks Nathans quality of life is more important and keeping him comfortable and happy. Does anyone have any thoughs on this? I know I am ranting a bit but It is so hard watching my daught go through this and we all love Nathan to bits but are not sure which way is the right thing for him. Una has been tested and she is a carrier, myself and 4 of my daughters are getting tested next week so it is all very emotive at the minute for all of us.

              Kind regars

              Marie
              Grandmother of Nathan age 3




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            • Marie Hanratty
              Yes it thanks Anne.  I spoke to Nathans consultant myself last night,  her name is Mairead Reid she is the community Paediatric Consultant and visits Nathan
              Message 6 of 18 , Aug 25 4:35 AM
              • 0 Attachment
                Yes it thanks Anne.  I spoke to Nathans consultant myself last night,  her name is Mairead Reid she is the community Paediatric Consultant and visits Nathan at home about once a month and is in charge of his primary care.  She is very nice and seems to care a lot about Nathan but is finding it difficult to get any information regarding the Jaundice or MTM in general. (when she is greatful for infomation I can give her it worries me, what do I know!)  As for Great Ormond St well those where her exact words to me last night.
                 
                Nathan has to have two trained carers with him at all times so they generally have one on at night so they can get some sleep and during the day as well so the provision for care is there.  There has been a decision that Nathan will be nursed at home this winter if he gets ill.  they have said he can even be ventilated fully at home if necessary but I don't know what the implications of this is as the carers cannot give medical treatment not even calpol even though they do his phyiso, suction, feeding and everything else.  I can only presume that nursing care will be provided to avoid him being admitted to the hospital in the even of him being very ill.
                 
                Regards
                 
                Marie


                From: Anne Lennox <anne@...>
                To: Myotubular_Myopathy@yahoogroups.com
                Sent: Tuesday, 25 August, 2009 11:04:57
                Subject: RE: [Myotubular_Myopathy] I need some help

                 

                looks like our emails crossed over.  Of course you can give my number to Nathan's consultant.  Tom never had jaundice so my personal experience of that is limited, other than having heard exactly what Betsy's email said - a number of children have had it and it seems to have gone away.  I can't understand who your consultant is talking to at Great Ormond St.  They only have experience of milder cases????  That's simply crazy.  I'll try in the meantime to track down some of the other doctors I know.  Is your private email address coyle32@yahoo. com? I'll copy you in on any emails
                x
                 


                From: Myotubular_Myopathy @yahoogroups. com [mailto:Myotubular_ Myopathy@ yahoogroups. com] On Behalf Of Marie Hanratty
                Sent: 24 August 2009 22:12
                To: Myotubular_Myopathy @yahoogroups. com
                Subject: Re: [Myotubular_ Myopathy] I need some help

                 

                Thank you Anne for your understanding.  I spoke to Nathans consultant tonight and she is very keen to talk to someone about Nathans Jandice as so far they are not able to find a reason for it.  She had talked to someone in Great Ormond st but she was able to tel me that Professor Muntoni is on hospital and the dr she spoke to said they only had experience of miler cases so she was consideringtrying to find out who to contact in the states.  Would it b ok if I give her your number as you might have some useful numbers for her?


                From: Anne Lennox <anne@olennox. com>
                To: Myotubular_Myopathy @yahoogroups. com
                Sent: Thursday, 20 August, 2009 11:50:15
                Subject: RE: [Myotubular_ Myopathy] I need some help

                 

                Dear Marie
                I have read your email with huge shock and devastation for your family. I simply cannot believe how Nathan is being treated - the things these doctors are saying is OUTRAGEOUS.  I'm Irish too but live in London and so have had a son with mtm under the care of the NHS too, and what you're being told is not 'standard practice'.  My son Tom died of mtm in 2007 but until then (he was nearly 4 years old) every medic we dealt with in London with experience of mtm was willing to support us and him 100%.  Professor Muntoni the head of the Dubowitz Neuromuscular Centre at Great Ormond St was Tom's consultant from the minute he was diagnosed.  He is an extraordinary man who treats these boys with the greatest amount of respect - I simply have never met anyone like him.  Even in the last months of Tom's life, after an airway blockage had caused irreversible brain damage and he was clearly not going to survive, Professor Muntoni came out here to our house to see him and blew me away with the dignity with which he treated him. The idea that his team would say not to intubate or tube feed a boy with severe MTM seems preposterous to me.  Tom did seem to have a milder form because he could breathe very well on his own, but his bulbar function was dreadful and he was always tube fed.  But in my experience I just cannot imagine the team under Professor Muntoni saying that they had 'a policy not to intubate or tube feed'
                 
                I am a founder of the Myotubular Trust the charity that raises funds in the UK and  Europe for mtm/cnm and when we first set it up in 2006 we had Professor Muntoni interviewed by a journalist friend of mine who was in charge of Health for the Evening Standard at the time as we wanted to convey to 'non-family' fundraisers why there was hope for these boys.  You can find the full article on this page of our site http://www.myotubul artrust.com/ page4.htm.  Scroll to the bottom and press the 'Research interview' link. But in case you can't access it, I've pasted in an excerpt at the end of this email, just to show you what Prof M thinks of these boys quality of life.
                 
                And as for Nathan not being a priority for swine flu treatment that is beyond shocking.  A couple of weeks ago my one year old boy seemed to have swine flu symptoms and in talking about whether he needed Tamiflu with my GP, her point was that 'ordinary' children (Rory doesn't have MTM) did not need all this excitement and intervention. By way of illustration, she was saying to me that if Tom was alive it would be to him that every single kind of support and intervention would be directed. It was never in any doubt to any of Tom's medics that his life was worth living beyond measure. 
                 
                This summer we went to Norfolk for a week's holiday. We chose to go there because my 9 year old daughter Sophie really wanted to see someone else who was going on holiday there....a little boy, also of 9, who had mtm.  This little boy is on a ventilator, tube fed....and a total joy to be with. He's happy, smiley, cheeky, gentle, beautiful.  He goes to mainstream school, is really into animals, loves books about 'facts', used to have mice as pets... and my daughter still thinks, 2 years after Tom died, that mtm boys are so much 'better than ordinary boys'.  We went with this little boy and his parents a) on a boat on the Norfolk Broads, b) to the seaside where he tried FIVE different flavours of ice cream - because if you're tube fed you deserve to be allowed taste lots of ice creams!, c) on a fairground ride, d) on a road train by the sea, e) rock picking (and yes of course he stayed up on the slipway and Sophie ran up and down picking stones - but they'd both be very surprised if anyone suggested they were having less than a good time), f) to an amusement arcade g) to a radar museum, h) played chase, harassed other tourists by racing around on the wheelchair, Sophie standing on the back and the little boy going at full speed.  And like all 9 year olds, they both had to be called back 3 or 4 times to be given a good telling off!... you get my drift!  Just children, living their lives.  With a ventilator in tow.
                 
                I will ask the little boy's mother if I can send you some pictures of the two of them on holiday if you think Una would like to see them.
                 
                If it would help to talk to me privately Marie, or to get access to the Neuromuscular Team at Great Ormond St, my email address is anne@olennox. com and my numbers are 0207 3502803 or 07885 309753.  I promise I don't normally sounds as rabid as this email might do - I'm just enraged that anyone could begin to say that Nathan was not a priority for care.  Thank goodness he has such a wonderful mother and family
                 
                With my very best wishes
                Anne Lennox
                 
                 

                 Excerpt from RESEARCH INTERVIEW WITH

                PROFESSOR F MUNTONI, PROFESSOR OF PAEDIATRIC NEUROLOGY,

                IMPERIAL COLLEGE , LONDON

                AND ADVISOR TO MYOTUBULAR TRUST

                BY RORY CLEMENTS, HEALTH EDITOR OF

                THE LONDON EVENING STANDARD. 

                MAY 2006.

                 

                Professor Muntoni is at pains to make it clear that his patients can have great lives, despite their disabilities. “A number of studies have found that the quality of life of severely disabled children is much better than the professionals – and parents – thought it would be. In fact, it’s not very different in terms of quality of life to that of children without physical disability.”

                 

                  He explains why this is so by asking me whether I am worried that I won’t be winning the Olympic Games this year. Of course I’m not worried – I have no ambitions in that direction. Running 10k on July 2nd will be quite tough enough for me. “Why are you not worried?” says Muntoni. “It’s because that’s not what you’re focusing on – you’re focusing on other things in life. But if you wanted to win the Marathon , maybe you would have been very depressed if you didn’t win – because that would have been the scope of your life. 

                 

                 “In the same way, the scope of these children is different. The engine has been running at a lower power from the beginning – so that is the level they are adjusted to, just as you are adjusted to a lower level than a Marathon runner without being any less happy.  These children can have a good, independent life – but they need help and they need to be prepared.”

                 

                 


                From: Myotubular_Myopathy @yahoogroups. com [mailto:Myotubular_ Myopathy@ yahoogroups. com] On Behalf Of coyle32
                Sent: 20 August 2009 09:36
                To: Myotubular_Myopathy @yahoogroups. com
                Subject: [Myotubular_ Myopathy] I need some help

                 

                Hi, I haven't been in touch a lot recently but I do keep up with what is going on with you all. Nathan my grandson is now 3 a wonderful child. It took the doctors here in Northern Ireland 3 years to get a proper diagnosis for Nathan up to now they had him have a number of conditions. The funny thing is when he was a few months only I printed of the information you have and gave it to his doctors and they didn't want to know. Even now as Nathan had developed jaundice I told Una about information on your site regarding liver conditions linked to MTM x-linked and so they tested him for these but so far they have not come up for any reason for the Jaundice. Any way this is not the main problem. This week Nathans consultant seems to be "preparing" Una for the worst. Nathan did have a very bad winter last year and I do not doubt for one minute that he would not be here today if it was not for Una's knowledge of the condition and her son and also standing up to the doctors who did not want to put him in ICU as they needed the beds!! She has been told that they are running out of options and stopped just short of saying they would not intervene if Nathan got as bad again. He told her all about the preparations being made for the Swine Flu in the hospital and that Nathan would not be priority. Also she was told yesterday that they were in touch with Great Ormond Street Hospital for advice and were told that GOS policy was that they would not intubate or tube feed any child born with such a serve form of MTM and so they did not have any advice as they only dealt with milder forms. Apparently only in the USA would there be aggressive intervention. In other words Nathan only got treatment because they did not know what was wrong with him and they had no experience. Does this mean that if another child is born and they recognise the symptoms that that child would be left to die? Una herself said she has experienced this in the ward as Nathan was in hospital for 8 months and she seem quite a few parents of children with children who had rare conditions being told that nothing could be done. Una who has fought in Nathans corner seems now to be preparing to let him go on one hand and in the other feeling like a bad mother. She has one consultant who wants to push Nathan as far as he can go and another who thinks Nathans quality of life is more important and keeping him comfortable and happy. Does anyone have any thoughs on this? I know I am ranting a bit but It is so hard watching my daught go through this and we all love Nathan to bits but are not sure which way is the right thing for him. Una has been tested and she is a carrier, myself and 4 of my daughters are getting tested next week so it is all very emotive at the minute for all of us.

                Kind regars

                Marie
                Grandmother of Nathan age 3



              • Anne Lennox
                Marie Dr Heinz Jungbluth from the Evelina Children s Hospital at St Thomas has come back to me instantly to say he d be more than happy to talk to Dr Reid. Dr
                Message 7 of 18 , Aug 26 2:37 AM
                • 0 Attachment
                  Marie
                  Dr Heinz Jungbluth from the Evelina Children's Hospital at St Thomas' has come back to me instantly to say he'd be more than happy to talk to Dr Reid.  Dr Jungbluth is one of the most experienced medics in the UK in MTM.  He is the person we have asked to manage the European patient registry for MTM being developed at the moment.  He was highly recommended for this job to us by Professor Muntoni because of his huge interest in x-MTM, and in fact Dr Jungbluth is responsible for finding one of the most recently discovered genes implicated in CNM - the RYR1 gene. 
                   
                  He is also very interested in the whys and wherefores of the 'other' symptoms that seem to come with myotubular myopathy.  When we were discussing with him the items that might need to be collected on a patient registry, he was so taken with our stories about families sharing examples of issues that go unreported in the research. He feels very sure that we will learn a lot about mtm by trying to understand other symptoms so he certainly will want to talk it through with Dr Reid.  However in the short summary I've been able to give him he did say just like Betsy did, and we all hear each other say, that the symptom should be treated without getting carried away with wondering what else is 'wrong'.  His exact words were  as I always say - even "uncommon" children do have "common" problems and you have to treat the latter as such !. and I thought I'd post them here because whenever Tom had a doctor who treated him like this, it used to make me want to cry with relief!
                   
                  And finally, the very very best news - Dr Jungbluth is planning to start a Neuromuscular Outreach Clinic in Northern Ireland in the not too distant future!  He should be a huge source of reassurance and knowledge to your local team, and he will relish meeting Una - he really is a listener and is one of those doctors who genuinely respects the insights of a parent
                   
                  Fingers crossed my dear
                  Anne
                  x
                  PS I'm going to forward his details to your email address - if it doesn't come through try calling me on 07885309753
                   


                  From: Myotubular_Myopathy@yahoogroups.com [mailto:Myotubular_Myopathy@yahoogroups.com] On Behalf Of Marie Hanratty
                  Sent: 25 August 2009 12:36
                  To: Myotubular_Myopathy@yahoogroups.com
                  Subject: Re: [Myotubular_Myopathy] I need some help

                   

                  Yes it thanks Anne.  I spoke to Nathans consultant myself last night,  her name is Mairead Reid she is the community Paediatric Consultant and visits Nathan at home about once a month and is in charge of his primary care.  She is very nice and seems to care a lot about Nathan but is finding it difficult to get any information regarding the Jaundice or MTM in general. (when she is greatful for infomation I can give her it worries me, what do I know!)  As for Great Ormond St well those where her exact words to me last night.
                   
                  Nathan has to have two trained carers with him at all times so they generally have one on at night so they can get some sleep and during the day as well so the provision for care is there.  There has been a decision that Nathan will be nursed at home this winter if he gets ill.  they have said he can even be ventilated fully at home if necessary but I don't know what the implications of this is as the carers cannot give medical treatment not even calpol even though they do his phyiso, suction, feeding and everything else.  I can only presume that nursing care will be provided to avoid him being admitted to the hospital in the even of him being very ill.
                   
                  Regards
                   
                  Marie


                  From: Anne Lennox <anne@olennox. com>
                  To: Myotubular_Myopathy @yahoogroups. com
                  Sent: Tuesday, 25 August, 2009 11:04:57
                  Subject: RE: [Myotubular_ Myopathy] I need some help

                   

                  looks like our emails crossed over.  Of course you can give my number to Nathan's consultant.  Tom never had jaundice so my personal experience of that is limited, other than having heard exactly what Betsy's email said - a number of children have had it and it seems to have gone away.  I can't understand who your consultant is talking to at Great Ormond St.  They only have experience of milder cases????  That's simply crazy.  I'll try in the meantime to track down some of the other doctors I know.  Is your private email address coyle32@yahoo. com? I'll copy you in on any emails
                  x
                   


                  From: Myotubular_Myopathy @yahoogroups. com [mailto:Myotubular_ Myopathy@ yahoogroups. com] On Behalf Of Marie Hanratty
                  Sent: 24 August 2009 22:12
                  To: Myotubular_Myopathy @yahoogroups. com
                  Subject: Re: [Myotubular_ Myopathy] I need some help

                   

                  Thank you Anne for your understanding.  I spoke to Nathans consultant tonight and she is very keen to talk to someone about Nathans Jandice as so far they are not able to find a reason for it.  She had talked to someone in Great Ormond st but she was able to tel me that Professor Muntoni is on hospital and the dr she spoke to said they only had experience of miler cases so she was consideringtrying to find out who to contact in the states.  Would it b ok if I give her your number as you might have some useful numbers for her?


                  From: Anne Lennox <anne@olennox. com>
                  To: Myotubular_Myopathy @yahoogroups. com
                  Sent: Thursday, 20 August, 2009 11:50:15
                  Subject: RE: [Myotubular_ Myopathy] I need some help

                   

                  Dear Marie
                  I have read your email with huge shock and devastation for your family. I simply cannot believe how Nathan is being treated - the things these doctors are saying is OUTRAGEOUS.  I'm Irish too but live in London and so have had a son with mtm under the care of the NHS too, and what you're being told is not 'standard practice'.  My son Tom died of mtm in 2007 but until then (he was nearly 4 years old) every medic we dealt with in London with experience of mtm was willing to support us and him 100%.  Professor Muntoni the head of the Dubowitz Neuromuscular Centre at Great Ormond St was Tom's consultant from the minute he was diagnosed.  He is an extraordinary man who treats these boys with the greatest amount of respect - I simply have never met anyone like him.  Even in the last months of Tom's life, after an airway blockage had caused irreversible brain damage and he was clearly not going to survive, Professor Muntoni came out here to our house to see him and blew me away with the dignity with which he treated him. The idea that his team would say not to intubate or tube feed a boy with severe MTM seems preposterous to me.  Tom did seem to have a milder form because he could breathe very well on his own, but his bulbar function was dreadful and he was always tube fed.  But in my experience I just cannot imagine the team under Professor Muntoni saying that they had 'a policy not to intubate or tube feed'
                   
                  I am a founder of the Myotubular Trust the charity that raises funds in the UK and  Europe for mtm/cnm and when we first set it up in 2006 we had Professor Muntoni interviewed by a journalist friend of mine who was in charge of Health for the Evening Standard at the time as we wanted to convey to 'non-family' fundraisers why there was hope for these boys.  You can find the full article on this page of our site http://www.myotubul artrust.com/ page4.htm.  Scroll to the bottom and press the 'Research interview' link. But in case you can't access it, I've pasted in an excerpt at the end of this email, just to show you what Prof M thinks of these boys quality of life.
                   
                  And as for Nathan not being a priority for swine flu treatment that is beyond shocking.  A couple of weeks ago my one year old boy seemed to have swine flu symptoms and in talking about whether he needed Tamiflu with my GP, her point was that 'ordinary' children (Rory doesn't have MTM) did not need all this excitement and intervention. By way of illustration, she was saying to me that if Tom was alive it would be to him that every single kind of support and intervention would be directed. It was never in any doubt to any of Tom's medics that his life was worth living beyond measure. 
                   
                  This summer we went to Norfolk for a week's holiday. We chose to go there because my 9 year old daughter Sophie really wanted to see someone else who was going on holiday there....a little boy, also of 9, who had mtm.  This little boy is on a ventilator, tube fed....and a total joy to be with. He's happy, smiley, cheeky, gentle, beautiful.  He goes to mainstream school, is really into animals, loves books about 'facts', used to have mice as pets... and my daughter still thinks, 2 years after Tom died, that mtm boys are so much 'better than ordinary boys'.  We went with this little boy and his parents a) on a boat on the Norfolk Broads, b) to the seaside where he tried FIVE different flavours of ice cream - because if you're tube fed you deserve to be allowed taste lots of ice creams!, c) on a fairground ride, d) on a road train by the sea, e) rock picking (and yes of course he stayed up on the slipway and Sophie ran up and down picking stones - but they'd both be very surprised if anyone suggested they were having less than a good time), f) to an amusement arcade g) to a radar museum, h) played chase, harassed other tourists by racing around on the wheelchair, Sophie standing on the back and the little boy going at full speed.  And like all 9 year olds, they both had to be called back 3 or 4 times to be given a good telling off!... you get my drift!  Just children, living their lives.  With a ventilator in tow.
                   
                  I will ask the little boy's mother if I can send you some pictures of the two of them on holiday if you think Una would like to see them.
                   
                  If it would help to talk to me privately Marie, or to get access to the Neuromuscular Team at Great Ormond St, my email address is anne@olennox. com and my numbers are 0207 3502803 or 07885 309753.  I promise I don't normally sounds as rabid as this email might do - I'm just enraged that anyone could begin to say that Nathan was not a priority for care.  Thank goodness he has such a wonderful mother and family
                   
                  With my very best wishes
                  Anne Lennox
                   
                   

                   Excerpt from RESEARCH INTERVIEW WITH

                  PROFESSOR F MUNTONI, PROFESSOR OF PAEDIATRIC NEUROLOGY,

                  IMPERIAL COLLEGE , LONDON

                  AND ADVISOR TO MYOTUBULAR TRUST

                  BY RORY CLEMENTS, HEALTH EDITOR OF

                  THE LONDON EVENING STANDARD. 

                  MAY 2006.

                   

                  Professor Muntoni is at pains to make it clear that his patients can have great lives, despite their disabilities. “A number of studies have found that the quality of life of severely disabled children is much better than the professionals – and parents – thought it would be. In fact, it’s not very different in terms of quality of life to that of children without physical disability.”

                   

                    He explains why this is so by asking me whether I am worried that I won’t be winning the Olympic Games this year. Of course I’m not worried – I have no ambitions in that direction. Running 10k on July 2nd will be quite tough enough for me. “Why are you not worried?” says Muntoni. “It’s because that’s not what you’re focusing on – you’re focusing on other things in life. But if you wanted to win the Marathon , maybe you would have been very depressed if you didn’t win – because that would have been the scope of your life. 

                   

                   “In the same way, the scope of these children is different. The engine has been running at a lower power from the beginning – so that is the level they are adjusted to, just as you are adjusted to a lower level than a Marathon runner without being any less happy.  These children can have a good, independent life – but they need help and they need to be prepared.”

                   

                   


                  From: Myotubular_Myopathy @yahoogroups. com [mailto:Myotubular_ Myopathy@ yahoogroups. com] On Behalf Of coyle32
                  Sent: 20 August 2009 09:36
                  To: Myotubular_Myopathy @yahoogroups. com
                  Subject: [Myotubular_ Myopathy] I need some help

                   

                  Hi, I haven't been in touch a lot recently but I do keep up with what is going on with you all. Nathan my grandson is now 3 a wonderful child. It took the doctors here in Northern Ireland 3 years to get a proper diagnosis for Nathan up to now they had him have a number of conditions. The funny thing is when he was a few months only I printed of the information you have and gave it to his doctors and they didn't want to know. Even now as Nathan had developed jaundice I told Una about information on your site regarding liver conditions linked to MTM x-linked and so they tested him for these but so far they have not come up for any reason for the Jaundice. Any way this is not the main problem. This week Nathans consultant seems to be "preparing" Una for the worst. Nathan did have a very bad winter last year and I do not doubt for one minute that he would not be here today if it was not for Una's knowledge of the condition and her son and also standing up to the doctors who did not want to put him in ICU as they needed the beds!! She has been told that they are running out of options and stopped just short of saying they would not intervene if Nathan got as bad again. He told her all about the preparations being made for the Swine Flu in the hospital and that Nathan would not be priority. Also she was told yesterday that they were in touch with Great Ormond Street Hospital for advice and were told that GOS policy was that they would not intubate or tube feed any child born with such a serve form of MTM and so they did not have any advice as they only dealt with milder forms. Apparently only in the USA would there be aggressive intervention. In other words Nathan only got treatment because they did not know what was wrong with him and they had no experience. Does this mean that if another child is born and they recognise the symptoms that that child would be left to die? Una herself said she has experienced this in the ward as Nathan was in hospital for 8 months and she seem quite a few parents of children with children who had rare conditions being told that nothing could be done. Una who has fought in Nathans corner seems now to be preparing to let him go on one hand and in the other feeling like a bad mother. She has one consultant who wants to push Nathan as far as he can go and another who thinks Nathans quality of life is more important and keeping him comfortable and happy. Does anyone have any thoughs on this? I know I am ranting a bit but It is so hard watching my daught go through this and we all love Nathan to bits but are not sure which way is the right thing for him. Una has been tested and she is a carrier, myself and 4 of my daughters are getting tested next week so it is all very emotive at the minute for all of us.

                  Kind regars

                  Marie
                  Grandmother of Nathan age 3



                • Marie Hanratty
                  Anne, thank you! thank you! thank you! I cannot believe how you have turned things so quickly.  I don;t know if  Mairead Reid has been intouch with you yet,
                  Message 8 of 18 , Aug 26 3:27 AM
                  • 0 Attachment
                    Anne, thank you! thank you! thank you! I cannot believe how you have turned things so quickly.  I don;t know if  Mairead Reid has been intouch with you yet, she said she would but I will pass this information on to her.
                     
                    You are a star
                     
                    Marie xxx


                    From: Anne Lennox <anne@...>
                    To: Myotubular_Myopathy@yahoogroups.com
                    Sent: Wednesday, 26 August, 2009 10:37:53
                    Subject: RE: [Myotubular_Myopathy] I need some help

                     

                    Marie
                    Dr Heinz Jungbluth from the Evelina Children's Hospital at St Thomas' has come back to me instantly to say he'd be more than happy to talk to Dr Reid.  Dr Jungbluth is one of the most experienced medics in the UK in MTM.  He is the person we have asked to manage the European patient registry for MTM being developed at the moment.  He was highly recommended for this job to us by Professor Muntoni because of his huge interest in x-MTM, and in fact Dr Jungbluth is responsible for finding one of the most recently discovered genes implicated in CNM - the RYR1 gene. 
                     
                    He is also very interested in the whys and wherefores of the 'other' symptoms that seem to come with myotubular myopathy.  When we were discussing with him the items that might need to be collected on a patient registry, he was so taken with our stories about families sharing examples of issues that go unreported in the research. He feels very sure that we will learn a lot about mtm by trying to understand other symptoms so he certainly will want to talk it through with Dr Reid.  However in the short summary I've been able to give him he did say just like Betsy did, and we all hear each other say, that the symptom should be treated without getting carried away with wondering what else is 'wrong'.  His exact words were  as I always say - even "uncommon" children do have "common" problems and you have to treat the latter as such !. and I thought I'd post them here because whenever Tom had a doctor who treated him like this, it used to make me want to cry with relief!
                     
                    And finally, the very very best news - Dr Jungbluth is planning to start a Neuromuscular Outreach Clinic in Northern Ireland in the not too distant future!  He should be a huge source of reassurance and knowledge to your local team, and he will relish meeting Una - he really is a listener and is one of those doctors who genuinely respects the insights of a parent
                     
                    Fingers crossed my dear
                    Anne
                    x
                    PS I'm going to forward his details to your email address - if it doesn't come through try calling me on 07885309753
                     


                    From: Myotubular_Myopathy @yahoogroups. com [mailto:Myotubular_ Myopathy@ yahoogroups. com] On Behalf Of Marie Hanratty
                    Sent: 25 August 2009 12:36
                    To: Myotubular_Myopathy @yahoogroups. com
                    Subject: Re: [Myotubular_ Myopathy] I need some help

                     

                    Yes it thanks Anne.  I spoke to Nathans consultant myself last night,  her name is Mairead Reid she is the community Paediatric Consultant and visits Nathan at home about once a month and is in charge of his primary care.  She is very nice and seems to care a lot about Nathan but is finding it difficult to get any information regarding the Jaundice or MTM in general. (when she is greatful for infomation I can give her it worries me, what do I know!)  As for Great Ormond St well those where her exact words to me last night.
                     
                    Nathan has to have two trained carers with him at all times so they generally have one on at night so they can get some sleep and during the day as well so the provision for care is there.  There has been a decision that Nathan will be nursed at home this winter if he gets ill.  they have said he can even be ventilated fully at home if necessary but I don't know what the implications of this is as the carers cannot give medical treatment not even calpol even though they do his phyiso, suction, feeding and everything else.  I can only presume that nursing care will be provided to avoid him being admitted to the hospital in the even of him being very ill.
                     
                    Regards
                     
                    Marie


                    From: Anne Lennox <anne@olennox. com>
                    To: Myotubular_Myopathy @yahoogroups. com
                    Sent: Tuesday, 25 August, 2009 11:04:57
                    Subject: RE: [Myotubular_ Myopathy] I need some help

                     

                    looks like our emails crossed over.  Of course you can give my number to Nathan's consultant.  Tom never had jaundice so my personal experience of that is limited, other than having heard exactly what Betsy's email said - a number of children have had it and it seems to have gone away.  I can't understand who your consultant is talking to at Great Ormond St.  They only have experience of milder cases????  That's simply crazy.  I'll try in the meantime to track down some of the other doctors I know.  Is your private email address coyle32@yahoo. com? I'll copy you in on any emails
                    x
                     


                    From: Myotubular_Myopathy @yahoogroups. com [mailto:Myotubular_ Myopathy@ yahoogroups. com] On Behalf Of Marie Hanratty
                    Sent: 24 August 2009 22:12
                    To: Myotubular_Myopathy @yahoogroups. com
                    Subject: Re: [Myotubular_ Myopathy] I need some help

                     

                    Thank you Anne for your understanding.  I spoke to Nathans consultant tonight and she is very keen to talk to someone about Nathans Jandice as so far they are not able to find a reason for it.  She had talked to someone in Great Ormond st but she was able to tel me that Professor Muntoni is on hospital and the dr she spoke to said they only had experience of miler cases so she was consideringtrying to find out who to contact in the states.  Would it b ok if I give her your number as you might have some useful numbers for her?


                    From: Anne Lennox <anne@olennox. com>
                    To: Myotubular_Myopathy @yahoogroups. com
                    Sent: Thursday, 20 August, 2009 11:50:15
                    Subject: RE: [Myotubular_ Myopathy] I need some help

                     

                    Dear Marie
                    I have read your email with huge shock and devastation for your family. I simply cannot believe how Nathan is being treated - the things these doctors are saying is OUTRAGEOUS.  I'm Irish too but live in London and so have had a son with mtm under the care of the NHS too, and what you're being told is not 'standard practice'.  My son Tom died of mtm in 2007 but until then (he was nearly 4 years old) every medic we dealt with in London with experience of mtm was willing to support us and him 100%.  Professor Muntoni the head of the Dubowitz Neuromuscular Centre at Great Ormond St was Tom's consultant from the minute he was diagnosed.  He is an extraordinary man who treats these boys with the greatest amount of respect - I simply have never met anyone like him.  Even in the last months of Tom's life, after an airway blockage had caused irreversible brain damage and he was clearly not going to survive, Professor Muntoni came out here to our house to see him and blew me away with the dignity with which he treated him. The idea that his team would say not to intubate or tube feed a boy with severe MTM seems preposterous to me.  Tom did seem to have a milder form because he could breathe very well on his own, but his bulbar function was dreadful and he was always tube fed.  But in my experience I just cannot imagine the team under Professor Muntoni saying that they had 'a policy not to intubate or tube feed'
                     
                    I am a founder of the Myotubular Trust the charity that raises funds in the UK and  Europe for mtm/cnm and when we first set it up in 2006 we had Professor Muntoni interviewed by a journalist friend of mine who was in charge of Health for the Evening Standard at the time as we wanted to convey to 'non-family' fundraisers why there was hope for these boys.  You can find the full article on this page of our site http://www.myotubul artrust.com/ page4.htm.  Scroll to the bottom and press the 'Research interview' link. But in case you can't access it, I've pasted in an excerpt at the end of this email, just to show you what Prof M thinks of these boys quality of life.
                     
                    And as for Nathan not being a priority for swine flu treatment that is beyond shocking.  A couple of weeks ago my one year old boy seemed to have swine flu symptoms and in talking about whether he needed Tamiflu with my GP, her point was that 'ordinary' children (Rory doesn't have MTM) did not need all this excitement and intervention. By way of illustration, she was saying to me that if Tom was alive it would be to him that every single kind of support and intervention would be directed. It was never in any doubt to any of Tom's medics that his life was worth living beyond measure. 
                     
                    This summer we went to Norfolk for a week's holiday. We chose to go there because my 9 year old daughter Sophie really wanted to see someone else who was going on holiday there....a little boy, also of 9, who had mtm.  This little boy is on a ventilator, tube fed....and a total joy to be with. He's happy, smiley, cheeky, gentle, beautiful.  He goes to mainstream school, is really into animals, loves books about 'facts', used to have mice as pets... and my daughter still thinks, 2 years after Tom died, that mtm boys are so much 'better than ordinary boys'.  We went with this little boy and his parents a) on a boat on the Norfolk Broads, b) to the seaside where he tried FIVE different flavours of ice cream - because if you're tube fed you deserve to be allowed taste lots of ice creams!, c) on a fairground ride, d) on a road train by the sea, e) rock picking (and yes of course he stayed up on the slipway and Sophie ran up and down picking stones - but they'd both be very surprised if anyone suggested they were having less than a good time), f) to an amusement arcade g) to a radar museum, h) played chase, harassed other tourists by racing around on the wheelchair, Sophie standing on the back and the little boy going at full speed.  And like all 9 year olds, they both had to be called back 3 or 4 times to be given a good telling off!... you get my drift!  Just children, living their lives.  With a ventilator in tow.
                     
                    I will ask the little boy's mother if I can send you some pictures of the two of them on holiday if you think Una would like to see them.
                     
                    If it would help to talk to me privately Marie, or to get access to the Neuromuscular Team at Great Ormond St, my email address is anne@olennox. com and my numbers are 0207 3502803 or 07885 309753.  I promise I don't normally sounds as rabid as this email might do - I'm just enraged that anyone could begin to say that Nathan was not a priority for care.  Thank goodness he has such a wonderful mother and family
                     
                    With my very best wishes
                    Anne Lennox
                     
                     

                     Excerpt from RESEARCH INTERVIEW WITH

                    PROFESSOR F MUNTONI, PROFESSOR OF PAEDIATRIC NEUROLOGY,

                    IMPERIAL COLLEGE , LONDON

                    AND ADVISOR TO MYOTUBULAR TRUST

                    BY RORY CLEMENTS, HEALTH EDITOR OF

                    THE LONDON EVENING STANDARD. 

                    MAY 2006.

                     

                    Professor Muntoni is at pains to make it clear that his patients can have great lives, despite their disabilities. “A number of studies have found that the quality of life of severely disabled children is much better than the professionals – and parents – thought it would be. In fact, it’s not very different in terms of quality of life to that of children without physical disability.”

                     

                      He explains why this is so by asking me whether I am worried that I won’t be winning the Olympic Games this year. Of course I’m not worried – I have no ambitions in that direction. Running 10k on July 2nd will be quite tough enough for me. “Why are you not worried?” says Muntoni. “It’s because that’s not what you’re focusing on – you’re focusing on other things in life. But if you wanted to win the Marathon , maybe you would have been very depressed if you didn’t win – because that would have been the scope of your life. 

                     

                     “In the same way, the scope of these children is different. The engine has been running at a lower power from the beginning – so that is the level they are adjusted to, just as you are adjusted to a lower level than a Marathon runner without being any less happy.  These children can have a good, independent life – but they need help and they need to be prepared.”

                     

                     


                    From: Myotubular_Myopathy @yahoogroups. com [mailto:Myotubular_ Myopathy@ yahoogroups. com] On Behalf Of coyle32
                    Sent: 20 August 2009 09:36
                    To: Myotubular_Myopathy @yahoogroups. com
                    Subject: [Myotubular_ Myopathy] I need some help

                     

                    Hi, I haven't been in touch a lot recently but I do keep up with what is going on with you all. Nathan my grandson is now 3 a wonderful child. It took the doctors here in Northern Ireland 3 years to get a proper diagnosis for Nathan up to now they had him have a number of conditions. The funny thing is when he was a few months only I printed of the information you have and gave it to his doctors and they didn't want to know. Even now as Nathan had developed jaundice I told Una about information on your site regarding liver conditions linked to MTM x-linked and so they tested him for these but so far they have not come up for any reason for the Jaundice. Any way this is not the main problem. This week Nathans consultant seems to be "preparing" Una for the worst. Nathan did have a very bad winter last year and I do not doubt for one minute that he would not be here today if it was not for Una's knowledge of the condition and her son and also standing up to the doctors who did not want to put him in ICU as they needed the beds!! She has been told that they are running out of options and stopped just short of saying they would not intervene if Nathan got as bad again. He told her all about the preparations being made for the Swine Flu in the hospital and that Nathan would not be priority. Also she was told yesterday that they were in touch with Great Ormond Street Hospital for advice and were told that GOS policy was that they would not intubate or tube feed any child born with such a serve form of MTM and so they did not have any advice as they only dealt with milder forms. Apparently only in the USA would there be aggressive intervention. In other words Nathan only got treatment because they did not know what was wrong with him and they had no experience. Does this mean that if another child is born and they recognise the symptoms that that child would be left to die? Una herself said she has experienced this in the ward as Nathan was in hospital for 8 months and she seem quite a few parents of children with children who had rare conditions being told that nothing could be done. Una who has fought in Nathans corner seems now to be preparing to let him go on one hand and in the other feeling like a bad mother. She has one consultant who wants to push Nathan as far as he can go and another who thinks Nathans quality of life is more important and keeping him comfortable and happy. Does anyone have any thoughs on this? I know I am ranting a bit but It is so hard watching my daught go through this and we all love Nathan to bits but are not sure which way is the right thing for him. Una has been tested and she is a carrier, myself and 4 of my daughters are getting tested next week so it is all very emotive at the minute for all of us.

                    Kind regars

                    Marie
                    Grandmother of Nathan age 3




                  • Betsy Grant
                    Woo-hoo!! I love it when good things happen like this, when wonderful docs connect with wonderful families! ... Woo-hoo!! I love it when good things happen
                    Message 9 of 18 , Aug 26 4:21 AM
                    • 0 Attachment
                      Woo-hoo!! I love it when good things happen like this, when wonderful docs connect with wonderful families!

                      On Wed, Aug 26, 2009 at 6:27 AM, Marie Hanratty <coyle32@...> wrote:
                       

                      Anne, thank you! thank you! thank you! I cannot believe how you have turned things so quickly.  I don;t know if  Mairead Reid has been intouch with you yet, she said she would but I will pass this information on to her.
                       
                      You are a star
                       
                      Marie xxx

                      Sent: Wednesday, 26 August, 2009 10:37:53

                      Subject: RE: [Myotubular_Myopathy] I need some help

                       

                      Marie
                      Dr Heinz Jungbluth from the Evelina Children's Hospital at St Thomas' has come back to me instantly to say he'd be more than happy to talk to Dr Reid.  Dr Jungbluth is one of the most experienced medics in the UK in MTM.  He is the person we have asked to manage the European patient registry for MTM being developed at the moment.  He was highly recommended for this job to us by Professor Muntoni because of his huge interest in x-MTM, and in fact Dr Jungbluth is responsible for finding one of the most recently discovered genes implicated in CNM - the RYR1 gene. 
                       
                      He is also very interested in the whys and wherefores of the 'other' symptoms that seem to come with myotubular myopathy.  When we were discussing with him the items that might need to be collected on a patient registry, he was so taken with our stories about families sharing examples of issues that go unreported in the research. He feels very sure that we will learn a lot about mtm by trying to understand other symptoms so he certainly will want to talk it through with Dr Reid.  However in the short summary I've been able to give him he did say just like Betsy did, and we all hear each other say, that the symptom should be treated without getting carried away with wondering what else is 'wrong'.  His exact words were  as I always say - even "uncommon" children do have "common" problems and you have to treat the latter as such !. and I thought I'd post them here because whenever Tom had a doctor who treated him like this, it used to make me want to cry with relief!
                       
                      And finally, the very very best news - Dr Jungbluth is planning to start a Neuromuscular Outreach Clinic in Northern Ireland in the not too distant future!  He should be a huge source of reassurance and knowledge to your local team, and he will relish meeting Una - he really is a listener and is one of those doctors who genuinely respects the insights of a parent
                       
                      Fingers crossed my dear
                      Anne
                      x
                      PS I'm going to forward his details to your email address - if it doesn't come through try calling me on 07885309753
                       


                      From: Myotubular_Myopathy @yahoogroups. com [mailto:Myotubular_ Myopathy@ yahoogroups. com] On Behalf Of Marie Hanratty
                      Sent: 25 August 2009 12:36
                      To: Myotubular_Myopathy @yahoogroups. com
                      Subject: Re: [Myotubular_ Myopathy] I need some help

                       

                      Yes it thanks Anne.  I spoke to Nathans consultant myself last night,  her name is Mairead Reid she is the community Paediatric Consultant and visits Nathan at home about once a month and is in charge of his primary care.  She is very nice and seems to care a lot about Nathan but is finding it difficult to get any information regarding the Jaundice or MTM in general. (when she is greatful for infomation I can give her it worries me, what do I know!)  As for Great Ormond St well those where her exact words to me last night.
                       
                      Nathan has to have two trained carers with him at all times so they generally have one on at night so they can get some sleep and during the day as well so the provision for care is there.  There has been a decision that Nathan will be nursed at home this winter if he gets ill.  they have said he can even be ventilated fully at home if necessary but I don't know what the implications of this is as the carers cannot give medical treatment not even calpol even though they do his phyiso, suction, feeding and everything else.  I can only presume that nursing care will be provided to avoid him being admitted to the hospital in the even of him being very ill.
                       
                      Regards
                       
                      Marie


                      From: Anne Lennox <anne@olennox. com>
                      To: Myotubular_Myopathy @yahoogroups. com
                      Sent: Tuesday, 25 August, 2009 11:04:57
                      Subject: RE: [Myotubular_ Myopathy] I need some help

                       

                      looks like our emails crossed over.  Of course you can give my number to Nathan's consultant.  Tom never had jaundice so my personal experience of that is limited, other than having heard exactly what Betsy's email said - a number of children have had it and it seems to have gone away.  I can't understand who your consultant is talking to at Great Ormond St.  They only have experience of milder cases????  That's simply crazy.  I'll try in the meantime to track down some of the other doctors I know.  Is your private email address coyle32@yahoo. com? I'll copy you in on any emails
                      x
                       


                      From: Myotubular_Myopathy @yahoogroups. com [mailto:Myotubular_ Myopathy@ yahoogroups. com] On Behalf Of Marie Hanratty
                      Sent: 24 August 2009 22:12
                      To: Myotubular_Myopathy @yahoogroups. com
                      Subject: Re: [Myotubular_ Myopathy] I need some help

                       

                      Thank you Anne for your understanding.  I spoke to Nathans consultant tonight and she is very keen to talk to someone about Nathans Jandice as so far they are not able to find a reason for it.  She had talked to someone in Great Ormond st but she was able to tel me that Professor Muntoni is on hospital and the dr she spoke to said they only had experience of miler cases so she was consideringtrying to find out who to contact in the states.  Would it b ok if I give her your number as you might have some useful numbers for her?


                      From: Anne Lennox <anne@olennox. com>
                      To: Myotubular_Myopathy @yahoogroups. com
                      Sent: Thursday, 20 August, 2009 11:50:15
                      Subject: RE: [Myotubular_ Myopathy] I need some help

                       

                      Dear Marie
                      I have read your email with huge shock and devastation for your family. I simply cannot believe how Nathan is being treated - the things these doctors are saying is OUTRAGEOUS.  I'm Irish too but live in London and so have had a son with mtm under the care of the NHS too, and what you're being told is not 'standard practice'.  My son Tom died of mtm in 2007 but until then (he was nearly 4 years old) every medic we dealt with in London with experience of mtm was willing to support us and him 100%.  Professor Muntoni the head of the Dubowitz Neuromuscular Centre at Great Ormond St was Tom's consultant from the minute he was diagnosed.  He is an extraordinary man who treats these boys with the greatest amount of respect - I simply have never met anyone like him.  Even in the last months of Tom's life, after an airway blockage had caused irreversible brain damage and he was clearly not going to survive, Professor Muntoni came out here to our house to see him and blew me away with the dignity with which he treated him. The idea that his team would say not to intubate or tube feed a boy with severe MTM seems preposterous to me.  Tom did seem to have a milder form because he could breathe very well on his own, but his bulbar function was dreadful and he was always tube fed.  But in my experience I just cannot imagine the team under Professor Muntoni saying that they had 'a policy not to intubate or tube feed'
                       
                      I am a founder of the Myotubular Trust the charity that raises funds in the UK and  Europe for mtm/cnm and when we first set it up in 2006 we had Professor Muntoni interviewed by a journalist friend of mine who was in charge of Health for the Evening Standard at the time as we wanted to convey to 'non-family' fundraisers why there was hope for these boys.  You can find the full article on this page of our site http://www.myotubul artrust.com/ page4.htm.  Scroll to the bottom and press the 'Research interview' link. But in case you can't access it, I've pasted in an excerpt at the end of this email, just to show you what Prof M thinks of these boys quality of life.
                       
                      And as for Nathan not being a priority for swine flu treatment that is beyond shocking.  A couple of weeks ago my one year old boy seemed to have swine flu symptoms and in talking about whether he needed Tamiflu with my GP, her point was that 'ordinary' children (Rory doesn't have MTM) did not need all this excitement and intervention. By way of illustration, she was saying to me that if Tom was alive it would be to him that every single kind of support and intervention would be directed. It was never in any doubt to any of Tom's medics that his life was worth living beyond measure. 
                       
                      This summer we went to Norfolk for a week's holiday. We chose to go there because my 9 year old daughter Sophie really wanted to see someone else who was going on holiday there....a little boy, also of 9, who had mtm.  This little boy is on a ventilator, tube fed....and a total joy to be with. He's happy, smiley, cheeky, gentle, beautiful.  He goes to mainstream school, is really into animals, loves books about 'facts', used to have mice as pets... and my daughter still thinks, 2 years after Tom died, that mtm boys are so much 'better than ordinary boys'.  We went with this little boy and his parents a) on a boat on the Norfolk Broads, b) to the seaside where he tried FIVE different flavours of ice cream - because if you're tube fed you deserve to be allowed taste lots of ice creams!, c) on a fairground ride, d) on a road train by the sea, e) rock picking (and yes of course he stayed up on the slipway and Sophie ran up and down picking stones - but they'd both be very surprised if anyone suggested they were having less than a good time), f) to an amusement arcade g) to a radar museum, h) played chase, harassed other tourists by racing around on the wheelchair, Sophie standing on the back and the little boy going at full speed.  And like all 9 year olds, they both had to be called back 3 or 4 times to be given a good telling off!... you get my drift!  Just children, living their lives.  With a ventilator in tow.
                       
                      I will ask the little boy's mother if I can send you some pictures of the two of them on holiday if you think Una would like to see them.
                       
                      If it would help to talk to me privately Marie, or to get access to the Neuromuscular Team at Great Ormond St, my email address is anne@olennox. com and my numbers are 0207 3502803 or 07885 309753.  I promise I don't normally sounds as rabid as this email might do - I'm just enraged that anyone could begin to say that Nathan was not a priority for care.  Thank goodness he has such a wonderful mother and family
                       
                      With my very best wishes
                      Anne Lennox
                       
                       

                       Excerpt from RESEARCH INTERVIEW WITH

                      PROFESSOR F MUNTONI, PROFESSOR OF PAEDIATRIC NEUROLOGY,

                      IMPERIAL COLLEGE , LONDON

                      AND ADVISOR TO MYOTUBULAR TRUST

                      BY RORY CLEMENTS, HEALTH EDITOR OF

                      THE LONDON EVENING STANDARD. 

                      MAY 2006.

                       

                      Professor Muntoni is at pains to make it clear that his patients can have great lives, despite their disabilities. “A number of studies have found that the quality of life of severely disabled children is much better than the professionals – and parents – thought it would be. In fact, it’s not very different in terms of quality of life to that of children without physical disability.”

                       

                        He explains why this is so by asking me whether I am worried that I won’t be winning the Olympic Games this year. Of course I’m not worried – I have no ambitions in that direction. Running 10k on July 2nd will be quite tough enough for me. “Why are you not worried?” says Muntoni. “It’s because that’s not what you’re focusing on – you’re focusing on other things in life. But if you wanted to win the Marathon , maybe you would have been very depressed if you didn’t win – because that would have been the scope of your life. 

                       

                       “In the same way, the scope of these children is different. The engine has been running at a lower power from the beginning – so that is the level they are adjusted to, just as you are adjusted to a lower level than a Marathon runner without being any less happy.  These children can have a good, independent life – but they need help and they need to be prepared.”

                       

                       


                      From: Myotubular_Myopathy @yahoogroups. com [mailto:Myotubular_ Myopathy@ yahoogroups. com] On Behalf Of coyle32
                      Sent: 20 August 2009 09:36
                      To: Myotubular_Myopathy @yahoogroups. com
                      Subject: [Myotubular_ Myopathy] I need some help

                       

                      Hi, I haven't been in touch a lot recently but I do keep up with what is going on with you all. Nathan my grandson is now 3 a wonderful child. It took the doctors here in Northern Ireland 3 years to get a proper diagnosis for Nathan up to now they had him have a number of conditions. The funny thing is when he was a few months only I printed of the information you have and gave it to his doctors and they didn't want to know. Even now as Nathan had developed jaundice I told Una about information on your site regarding liver conditions linked to MTM x-linked and so they tested him for these but so far they have not come up for any reason for the Jaundice. Any way this is not the main problem. This week Nathans consultant seems to be "preparing" Una for the worst. Nathan did have a very bad winter last year and I do not doubt for one minute that he would not be here today if it was not for Una's knowledge of the condition and her son and also standing up to the doctors who did not want to put him in ICU as they needed the beds!! She has been told that they are running out of options and stopped just short of saying they would not intervene if Nathan got as bad again. He told her all about the preparations being made for the Swine Flu in the hospital and that Nathan would not be priority. Also she was told yesterday that they were in touch with Great Ormond Street Hospital for advice and were told that GOS policy was that they would not intubate or tube feed any child born with such a serve form of MTM and so they did not have any advice as they only dealt with milder forms. Apparently only in the USA would there be aggressive intervention. In other words Nathan only got treatment because they did not know what was wrong with him and they had no experience. Does this mean that if another child is born and they recognise the symptoms that that child would be left to die? Una herself said she has experienced this in the ward as Nathan was in hospital for 8 months and she seem quite a few parents of children with children who had rare conditions being told that nothing could be done. Una who has fought in Nathans corner seems now to be preparing to let him go on one hand and in the other feeling like a bad mother. She has one consultant who wants to push Nathan as far as he can go and another who thinks Nathans quality of life is more important and keeping him comfortable and happy. Does anyone have any thoughs on this? I know I am ranting a bit but It is so hard watching my daught go through this and we all love Nathan to bits but are not sure which way is the right thing for him. Una has been tested and she is a carrier, myself and 4 of my daughters are getting tested next week so it is all very emotive at the minute for all of us.

                      Kind regars

                      Marie
                      Grandmother of Nathan age 3





                    • Aminah Hart
                      Oh how I wish he d been there when Marlon was born at St Thomas in 2005 and spent three months in Evelina NICU!  I think a diagnosis may have been
                      Message 10 of 18 , Aug 26 2:12 PM
                      • 0 Attachment
                        Oh how I wish he'd been there when Marlon was born at St Thomas' in 2005 and spent three months in Evelina NICU!  I think a diagnosis may have been forthcoming had that been the case....

                        Aminah

                        --- On Wed, 26/8/09, Anne Lennox <anne@...> wrote:

                        From: Anne Lennox <anne@...>
                        Subject: RE: [Myotubular_Myopathy] I need some help
                        To: Myotubular_Myopathy@yahoogroups.com
                        Received: Wednesday, 26 August, 2009, 7:37 PM

                         

                        Marie
                        Dr Heinz Jungbluth from the Evelina Children's Hospital at St Thomas' has come back to me instantly to say he'd be more than happy to talk to Dr Reid.  Dr Jungbluth is one of the most experienced medics in the UK in MTM.  He is the person we have asked to manage the European patient registry for MTM being developed at the moment.  He was highly recommended for this job to us by Professor Muntoni because of his huge interest in x-MTM, and in fact Dr Jungbluth is responsible for finding one of the most recently discovered genes implicated in CNM - the RYR1 gene. 
                         
                        He is also very interested in the whys and wherefores of the 'other' symptoms that seem to come with myotubular myopathy.  When we were discussing with him the items that might need to be collected on a patient registry, he was so taken with our stories about families sharing examples of issues that go unreported in the research. He feels very sure that we will learn a lot about mtm by trying to understand other symptoms so he certainly will want to talk it through with Dr Reid.  However in the short summary I've been able to give him he did say just like Betsy did, and we all hear each other say, that the symptom should be treated without getting carried away with wondering what else is 'wrong'.  His exact words were  as I always say - even "uncommon" children do have "common" problems and you have to treat the latter as such !. and I thought I'd post them here because whenever Tom had a doctor who treated him like this, it used to make me want to cry with relief!
                         
                        And finally, the very very best news - Dr Jungbluth is planning to start a Neuromuscular Outreach Clinic in Northern Ireland in the not too distant future!  He should be a huge source of reassurance and knowledge to your local team, and he will relish meeting Una - he really is a listener and is one of those doctors who genuinely respects the insights of a parent
                         
                        Fingers crossed my dear
                        Anne
                        x
                        PS I'm going to forward his details to your email address - if it doesn't come through try calling me on 07885309753
                         


                        From: Myotubular_Myopathy @yahoogroups. com [mailto:Myotubular_ Myopathy@ yahoogroups. com] On Behalf Of Marie Hanratty
                        Sent: 25 August 2009 12:36
                        To: Myotubular_Myopathy @yahoogroups. com
                        Subject: Re: [Myotubular_ Myopathy] I need some help

                         

                        Yes it thanks Anne.  I spoke to Nathans consultant myself last night,  her name is Mairead Reid she is the community Paediatric Consultant and visits Nathan at home about once a month and is in charge of his primary care.  She is very nice and seems to care a lot about Nathan but is finding it difficult to get any information regarding the Jaundice or MTM in general. (when she is greatful for infomation I can give her it worries me, what do I know!)  As for Great Ormond St well those where her exact words to me last night.
                         
                        Nathan has to have two trained carers with him at all times so they generally have one on at night so they can get some sleep and during the day as well so the provision for care is there.  There has been a decision that Nathan will be nursed at home this winter if he gets ill.  they have said he can even be ventilated fully at home if necessary but I don't know what the implications of this is as the carers cannot give medical treatment not even calpol even though they do his phyiso, suction, feeding and everything else.  I can only presume that nursing care will be provided to avoid him being admitted to the hospital in the even of him being very ill.
                         
                        Regards
                         
                        Marie


                        From: Anne Lennox <anne@olennox. com>
                        To: Myotubular_Myopathy @yahoogroups. com
                        Sent: Tuesday, 25 August, 2009 11:04:57
                        Subject: RE: [Myotubular_ Myopathy] I need some help

                         

                        looks like our emails crossed over.  Of course you can give my number to Nathan's consultant.  Tom never had jaundice so my personal experience of that is limited, other than having heard exactly what Betsy's email said - a number of children have had it and it seems to have gone away.  I can't understand who your consultant is talking to at Great Ormond St.  They only have experience of milder cases????  That's simply crazy.  I'll try in the meantime to track down some of the other doctors I know.  Is your private email address coyle32@yahoo. com? I'll copy you in on any emails
                        x
                         


                        From: Myotubular_Myopathy @yahoogroups. com [mailto:Myotubular_ Myopathy@ yahoogroups. com] On Behalf Of Marie Hanratty
                        Sent: 24 August 2009 22:12
                        To: Myotubular_Myopathy @yahoogroups. com
                        Subject: Re: [Myotubular_ Myopathy] I need some help

                         

                        Thank you Anne for your understanding.  I spoke to Nathans consultant tonight and she is very keen to talk to someone about Nathans Jandice as so far they are not able to find a reason for it.  She had talked to someone in Great Ormond st but she was able to tel me that Professor Muntoni is on hospital and the dr she spoke to said they only had experience of miler cases so she was consideringtrying to find out who to contact in the states.  Would it b ok if I give her your number as you might have some useful numbers for her?


                        From: Anne Lennox <anne@olennox. com>
                        To: Myotubular_Myopathy @yahoogroups. com
                        Sent: Thursday, 20 August, 2009 11:50:15
                        Subject: RE: [Myotubular_ Myopathy] I need some help

                         

                        Dear Marie
                        I have read your email with huge shock and devastation for your family. I simply cannot believe how Nathan is being treated - the things these doctors are saying is OUTRAGEOUS.  I'm Irish too but live in London and so have had a son with mtm under the care of the NHS too, and what you're being told is not 'standard practice'.  My son Tom died of mtm in 2007 but until then (he was nearly 4 years old) every medic we dealt with in London with experience of mtm was willing to support us and him 100%.  Professor Muntoni the head of the Dubowitz Neuromuscular Centre at Great Ormond St was Tom's consultant from the minute he was diagnosed.  He is an extraordinary man who treats these boys with the greatest amount of respect - I simply have never met anyone like him.  Even in the last months of Tom's life, after an airway blockage had caused irreversible brain damage and he was clearly not going to survive, Professor Muntoni came out here to our house to see him and blew me away with the dignity with which he treated him. The idea that his team would say not to intubate or tube feed a boy with severe MTM seems preposterous to me.  Tom did seem to have a milder form because he could breathe very well on his own, but his bulbar function was dreadful and he was always tube fed.  But in my experience I just cannot imagine the team under Professor Muntoni saying that they had 'a policy not to intubate or tube feed'
                         
                        I am a founder of the Myotubular Trust the charity that raises funds in the UK and  Europe for mtm/cnm and when we first set it up in 2006 we had Professor Muntoni interviewed by a journalist friend of mine who was in charge of Health for the Evening Standard at the time as we wanted to convey to 'non-family' fundraisers why there was hope for these boys.  You can find the full article on this page of our site http://www.myotubul artrust.com/ page4.htm.  Scroll to the bottom and press the 'Research interview' link. But in case you can't access it, I've pasted in an excerpt at the end of this email, just to show you what Prof M thinks of these boys quality of life.
                         
                        And as for Nathan not being a priority for swine flu treatment that is beyond shocking.  A couple of weeks ago my one year old boy seemed to have swine flu symptoms and in talking about whether he needed Tamiflu with my GP, her point was that 'ordinary' children (Rory doesn't have MTM) did not need all this excitement and intervention. By way of illustration, she was saying to me that if Tom was alive it would be to him that every single kind of support and intervention would be directed. It was never in any doubt to any of Tom's medics that his life was worth living beyond measure. 
                         
                        This summer we went to Norfolk for a week's holiday. We chose to go there because my 9 year old daughter Sophie really wanted to see someone else who was going on holiday there....a little boy, also of 9, who had mtm.  This little boy is on a ventilator, tube fed....and a total joy to be with. He's happy, smiley, cheeky, gentle, beautiful.  He goes to mainstream school, is really into animals, loves books about 'facts', used to have mice as pets... and my daughter still thinks, 2 years after Tom died, that mtm boys are so much 'better than ordinary boys'.  We went with this little boy and his parents a) on a boat on the Norfolk Broads, b) to the seaside where he tried FIVE different flavours of ice cream - because if you're tube fed you deserve to be allowed taste lots of ice creams!, c) on a fairground ride, d) on a road train by the sea, e) rock picking (and yes of course he stayed up on the slipway and Sophie ran up and down picking stones - but they'd both be very surprised if anyone suggested they were having less than a good time), f) to an amusement arcade g) to a radar museum, h) played chase, harassed other tourists by racing around on the wheelchair, Sophie standing on the back and the little boy going at full speed.  And like all 9 year olds, they both had to be called back 3 or 4 times to be given a good telling off!... you get my drift!  Just children, living their lives.  With a ventilator in tow.
                         
                        I will ask the little boy's mother if I can send you some pictures of the two of them on holiday if you think Una would like to see them.
                         
                        If it would help to talk to me privately Marie, or to get access to the Neuromuscular Team at Great Ormond St, my email address is anne@olennox. com and my numbers are 0207 3502803 or 07885 309753.  I promise I don't normally sounds as rabid as this email might do - I'm just enraged that anyone could begin to say that Nathan was not a priority for care.  Thank goodness he has such a wonderful mother and family
                         
                        With my very best wishes
                        Anne Lennox
                         
                         

                         Excerpt from RESEARCH INTERVIEW WITH

                        PROFESSOR F MUNTONI, PROFESSOR OF PAEDIATRIC NEUROLOGY,

                        IMPERIAL COLLEGE , LONDON

                        AND ADVISOR TO MYOTUBULAR TRUST

                        BY RORY CLEMENTS, HEALTH EDITOR OF

                        THE LONDON EVENING STANDARD. 

                        MAY 2006.

                         

                        Professor Muntoni is at pains to make it clear that his patients can have great lives, despite their disabilities. “A number of studies have found that the quality of life of severely disabled children is much better than the professionals – and parents – thought it would be. In fact, it’s not very different in terms of quality of life to that of children without physical disability.”

                         

                          He explains why this is so by asking me whether I am worried that I won’t be winning the Olympic Games this year. Of course I’m not worried – I have no ambitions in that direction. Running 10k on July 2nd will be quite tough enough for me. “Why are you not worried?” says Muntoni. “It’s because that’s not what you’re focusing on – you’re focusing on other things in life. But if you wanted to win the Marathon , maybe you would have been very depressed if you didn’t win – because that would have been the scope of your life. 

                         

                         “In the same way, the scope of these children is different. The engine has been running at a lower power from the beginning – so that is the level they are adjusted to, just as you are adjusted to a lower level than a Marathon runner without being any less happy.  These children can have a good, independent life – but they need help and they need to be prepared.”

                         

                         


                        From: Myotubular_Myopathy @yahoogroups. com [mailto:Myotubular_ Myopathy@ yahoogroups. com] On Behalf Of coyle32
                        Sent: 20 August 2009 09:36
                        To: Myotubular_Myopathy @yahoogroups. com
                        Subject: [Myotubular_ Myopathy] I need some help

                         

                        Hi, I haven't been in touch a lot recently but I do keep up with what is going on with you all. Nathan my grandson is now 3 a wonderful child. It took the doctors here in Northern Ireland 3 years to get a proper diagnosis for Nathan up to now they had him have a number of conditions. The funny thing is when he was a few months only I printed of the information you have and gave it to his doctors and they didn't want to know. Even now as Nathan had developed jaundice I told Una about information on your site regarding liver conditions linked to MTM x-linked and so they tested him for these but so far they have not come up for any reason for the Jaundice. Any way this is not the main problem. This week Nathans consultant seems to be "preparing" Una for the worst. Nathan did have a very bad winter last year and I do not doubt for one minute that he would not be here today if it was not for Una's knowledge of the condition and her son and also standing up to the doctors who did not want to put him in ICU as they needed the beds!! She has been told that they are running out of options and stopped just short of saying they would not intervene if Nathan got as bad again. He told her all about the preparations being made for the Swine Flu in the hospital and that Nathan would not be priority. Also she was told yesterday that they were in touch with Great Ormond Street Hospital for advice and were told that GOS policy was that they would not intubate or tube feed any child born with such a serve form of MTM and so they did not have any advice as they only dealt with milder forms. Apparently only in the USA would there be aggressive intervention. In other words Nathan only got treatment because they did not know what was wrong with him and they had no experience. Does this mean that if another child is born and they recognise the symptoms that that child would be left to die? Una herself said she has experienced this in the ward as Nathan was in hospital for 8 months and she seem quite a few parents of children with children who had rare conditions being told that nothing could be done. Una who has fought in Nathans corner seems now to be preparing to let him go on one hand and in the other feeling like a bad mother. She has one consultant who wants to push Nathan as far as he can go and another who thinks Nathans quality of life is more important and keeping him comfortable and happy. Does anyone have any thoughs on this? I know I am ranting a bit but It is so hard watching my daught go through this and we all love Nathan to bits but are not sure which way is the right thing for him. Una has been tested and she is a carrier, myself and 4 of my daughters are getting tested next week so it is all very emotive at the minute for all of us.

                        Kind regars

                        Marie
                        Grandmother of Nathan age 3





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                      • Anne Lennox
                        I know, I know, I know dear Aminah. And how I wish I d known you were there - 10 minutes by train from my front door! And do you know the lab at Guy s and St
                        Message 11 of 18 , Aug 27 2:50 AM
                        • 0 Attachment
                          I know, I know, I know dear Aminah.  And how I wish I'd known you were there - 10 minutes by train from my front door!  And do you know the lab at Guy's and St Thomas' is now the national centre for molecular testing for mtm?  Life can be so cruel
                          Thinking of you and Louis, and Marlon of course
                          xxx
                           


                          From: Myotubular_Myopathy@yahoogroups.com [mailto:Myotubular_Myopathy@yahoogroups.com] On Behalf Of Aminah Hart
                          Sent: 26 August 2009 22:13
                          To: Myotubular_Myopathy@yahoogroups.com
                          Subject: RE: [Myotubular_Myopathy] I need some help

                           

                          Oh how I wish he'd been there when Marlon was born at St Thomas' in 2005 and spent three months in Evelina NICU!  I think a diagnosis may have been forthcoming had that been the case....

                          Aminah

                          --- On Wed, 26/8/09, Anne Lennox <anne@olennox. com> wrote:

                          From: Anne Lennox <anne@olennox. com>
                          Subject: RE: [Myotubular_ Myopathy] I need some help
                          To: Myotubular_Myopathy @yahoogroups. com
                          Received: Wednesday, 26 August, 2009, 7:37 PM

                           

                          Marie
                          Dr Heinz Jungbluth from the Evelina Children's Hospital at St Thomas' has come back to me instantly to say he'd be more than happy to talk to Dr Reid.  Dr Jungbluth is one of the most experienced medics in the UK in MTM.  He is the person we have asked to manage the European patient registry for MTM being developed at the moment.  He was highly recommended for this job to us by Professor Muntoni because of his huge interest in x-MTM, and in fact Dr Jungbluth is responsible for finding one of the most recently discovered genes implicated in CNM - the RYR1 gene. 
                           
                          He is also very interested in the whys and wherefores of the 'other' symptoms that seem to come with myotubular myopathy.  When we were discussing with him the items that might need to be collected on a patient registry, he was so taken with our stories about families sharing examples of issues that go unreported in the research. He feels very sure that we will learn a lot about mtm by trying to understand other symptoms so he certainly will want to talk it through with Dr Reid.  However in the short summary I've been able to give him he did say just like Betsy did, and we all hear each other say, that the symptom should be treated without getting carried away with wondering what else is 'wrong'.  His exact words were  as I always say - even "uncommon" children do have "common" problems and you have to treat the latter as such !. and I thought I'd post them here because whenever Tom had a doctor who treated him like this, it used to make me want to cry with relief!
                           
                          And finally, the very very best news - Dr Jungbluth is planning to start a Neuromuscular Outreach Clinic in Northern Ireland in the not too distant future!  He should be a huge source of reassurance and knowledge to your local team, and he will relish meeting Una - he really is a listener and is one of those doctors who genuinely respects the insights of a parent
                           
                          Fingers crossed my dear
                          Anne
                          x
                          PS I'm going to forward his details to your email address - if it doesn't come through try calling me on 07885309753
                           


                          From: Myotubular_Myopathy @yahoogroups. com [mailto:Myotubular_ Myopathy@ yahoogroups. com] On Behalf Of Marie Hanratty
                          Sent: 25 August 2009 12:36
                          To: Myotubular_Myopathy @yahoogroups. com
                          Subject: Re: [Myotubular_ Myopathy] I need some help

                           

                          Yes it thanks Anne.  I spoke to Nathans consultant myself last night,  her name is Mairead Reid she is the community Paediatric Consultant and visits Nathan at home about once a month and is in charge of his primary care.  She is very nice and seems to care a lot about Nathan but is finding it difficult to get any information regarding the Jaundice or MTM in general. (when she is greatful for infomation I can give her it worries me, what do I know!)  As for Great Ormond St well those where her exact words to me last night.
                           
                          Nathan has to have two trained carers with him at all times so they generally have one on at night so they can get some sleep and during the day as well so the provision for care is there.  There has been a decision that Nathan will be nursed at home this winter if he gets ill.  they have said he can even be ventilated fully at home if necessary but I don't know what the implications of this is as the carers cannot give medical treatment not even calpol even though they do his phyiso, suction, feeding and everything else.  I can only presume that nursing care will be provided to avoid him being admitted to the hospital in the even of him being very ill.
                           
                          Regards
                           
                          Marie


                          From: Anne Lennox <anne@olennox. com>
                          To: Myotubular_Myopathy @yahoogroups. com
                          Sent: Tuesday, 25 August, 2009 11:04:57
                          Subject: RE: [Myotubular_ Myopathy] I need some help

                           

                          looks like our emails crossed over.  Of course you can give my number to Nathan's consultant.  Tom never had jaundice so my personal experience of that is limited, other than having heard exactly what Betsy's email said - a number of children have had it and it seems to have gone away.  I can't understand who your consultant is talking to at Great Ormond St.  They only have experience of milder cases????  That's simply crazy.  I'll try in the meantime to track down some of the other doctors I know.  Is your private email address coyle32@yahoo. com? I'll copy you in on any emails
                          x
                           


                          From: Myotubular_Myopathy @yahoogroups. com [mailto:Myotubular_ Myopathy@ yahoogroups. com] On Behalf Of Marie Hanratty
                          Sent: 24 August 2009 22:12
                          To: Myotubular_Myopathy @yahoogroups. com
                          Subject: Re: [Myotubular_ Myopathy] I need some help

                           

                          Thank you Anne for your understanding.  I spoke to Nathans consultant tonight and she is very keen to talk to someone about Nathans Jandice as so far they are not able to find a reason for it.  She had talked to someone in Great Ormond st but she was able to tel me that Professor Muntoni is on hospital and the dr she spoke to said they only had experience of miler cases so she was consideringtrying to find out who to contact in the states.  Would it b ok if I give her your number as you might have some useful numbers for her?


                          From: Anne Lennox <anne@olennox. com>
                          To: Myotubular_Myopathy @yahoogroups. com
                          Sent: Thursday, 20 August, 2009 11:50:15
                          Subject: RE: [Myotubular_ Myopathy] I need some help

                           

                          Dear Marie
                          I have read your email with huge shock and devastation for your family. I simply cannot believe how Nathan is being treated - the things these doctors are saying is OUTRAGEOUS.  I'm Irish too but live in London and so have had a son with mtm under the care of the NHS too, and what you're being told is not 'standard practice'.  My son Tom died of mtm in 2007 but until then (he was nearly 4 years old) every medic we dealt with in London with experience of mtm was willing to support us and him 100%.  Professor Muntoni the head of the Dubowitz Neuromuscular Centre at Great Ormond St was Tom's consultant from the minute he was diagnosed.  He is an extraordinary man who treats these boys with the greatest amount of respect - I simply have never met anyone like him.  Even in the last months of Tom's life, after an airway blockage had caused irreversible brain damage and he was clearly not going to survive, Professor Muntoni came out here to our house to see him and blew me away with the dignity with which he treated him. The idea that his team would say not to intubate or tube feed a boy with severe MTM seems preposterous to me.  Tom did seem to have a milder form because he could breathe very well on his own, but his bulbar function was dreadful and he was always tube fed.  But in my experience I just cannot imagine the team under Professor Muntoni saying that they had 'a policy not to intubate or tube feed'
                           
                          I am a founder of the Myotubular Trust the charity that raises funds in the UK and  Europe for mtm/cnm and when we first set it up in 2006 we had Professor Muntoni interviewed by a journalist friend of mine who was in charge of Health for the Evening Standard at the time as we wanted to convey to 'non-family' fundraisers why there was hope for these boys.  You can find the full article on this page of our site http://www.myotubul artrust.com/ page4.htm.  Scroll to the bottom and press the 'Research interview' link. But in case you can't access it, I've pasted in an excerpt at the end of this email, just to show you what Prof M thinks of these boys quality of life.
                           
                          And as for Nathan not being a priority for swine flu treatment that is beyond shocking.  A couple of weeks ago my one year old boy seemed to have swine flu symptoms and in talking about whether he needed Tamiflu with my GP, her point was that 'ordinary' children (Rory doesn't have MTM) did not need all this excitement and intervention. By way of illustration, she was saying to me that if Tom was alive it would be to him that every single kind of support and intervention would be directed. It was never in any doubt to any of Tom's medics that his life was worth living beyond measure. 
                           
                          This summer we went to Norfolk for a week's holiday. We chose to go there because my 9 year old daughter Sophie really wanted to see someone else who was going on holiday there....a little boy, also of 9, who had mtm.  This little boy is on a ventilator, tube fed....and a total joy to be with. He's happy, smiley, cheeky, gentle, beautiful.  He goes to mainstream school, is really into animals, loves books about 'facts', used to have mice as pets... and my daughter still thinks, 2 years after Tom died, that mtm boys are so much 'better than ordinary boys'.  We went with this little boy and his parents a) on a boat on the Norfolk Broads, b) to the seaside where he tried FIVE different flavours of ice cream - because if you're tube fed you deserve to be allowed taste lots of ice creams!, c) on a fairground ride, d) on a road train by the sea, e) rock picking (and yes of course he stayed up on the slipway and Sophie ran up and down picking stones - but they'd both be very surprised if anyone suggested they were having less than a good time), f) to an amusement arcade g) to a radar museum, h) played chase, harassed other tourists by racing around on the wheelchair, Sophie standing on the back and the little boy going at full speed.  And like all 9 year olds, they both had to be called back 3 or 4 times to be given a good telling off!... you get my drift!  Just children, living their lives.  With a ventilator in tow.
                           
                          I will ask the little boy's mother if I can send you some pictures of the two of them on holiday if you think Una would like to see them.
                           
                          If it would help to talk to me privately Marie, or to get access to the Neuromuscular Team at Great Ormond St, my email address is anne@olennox. com and my numbers are 0207 3502803 or 07885 309753.  I promise I don't normally sounds as rabid as this email might do - I'm just enraged that anyone could begin to say that Nathan was not a priority for care.  Thank goodness he has such a wonderful mother and family
                           
                          With my very best wishes
                          Anne Lennox
                           
                           

                           Excerpt from RESEARCH INTERVIEW WITH

                          PROFESSOR F MUNTONI, PROFESSOR OF PAEDIATRIC NEUROLOGY,

                          IMPERIAL COLLEGE , LONDON

                          AND ADVISOR TO MYOTUBULAR TRUST

                          BY RORY CLEMENTS, HEALTH EDITOR OF

                          THE LONDON EVENING STANDARD. 

                          MAY 2006.

                           

                          Professor Muntoni is at pains to make it clear that his patients can have great lives, despite their disabilities. “A number of studies have found that the quality of life of severely disabled children is much better than the professionals – and parents – thought it would be. In fact, it’s not very different in terms of quality of life to that of children without physical disability.”

                           

                            He explains why this is so by asking me whether I am worried that I won’t be winning the Olympic Games this year. Of course I’m not worried – I have no ambitions in that direction. Running 10k on July 2nd will be quite tough enough for me. “Why are you not worried?” says Muntoni. “It’s because that’s not what you’re focusing on – you’re focusing on other things in life. But if you wanted to win the Marathon , maybe you would have been very depressed if you didn’t win – because that would have been the scope of your life. 

                           

                           “In the same way, the scope of these children is different. The engine has been running at a lower power from the beginning – so that is the level they are adjusted to, just as you are adjusted to a lower level than a Marathon runner without being any less happy.  These children can have a good, independent life – but they need help and they need to be prepared.”

                           

                           


                          From: Myotubular_Myopathy @yahoogroups. com [mailto:Myotubular_ Myopathy@ yahoogroups. com] On Behalf Of coyle32
                          Sent: 20 August 2009 09:36
                          To: Myotubular_Myopathy @yahoogroups. com
                          Subject: [Myotubular_ Myopathy] I need some help

                           

                          Hi, I haven't been in touch a lot recently but I do keep up with what is going on with you all. Nathan my grandson is now 3 a wonderful child. It took the doctors here in Northern Ireland 3 years to get a proper diagnosis for Nathan up to now they had him have a number of conditions. The funny thing is when he was a few months only I printed of the information you have and gave it to his doctors and they didn't want to know. Even now as Nathan had developed jaundice I told Una about information on your site regarding liver conditions linked to MTM x-linked and so they tested him for these but so far they have not come up for any reason for the Jaundice. Any way this is not the main problem. This week Nathans consultant seems to be "preparing" Una for the worst. Nathan did have a very bad winter last year and I do not doubt for one minute that he would not be here today if it was not for Una's knowledge of the condition and her son and also standing up to the doctors who did not want to put him in ICU as they needed the beds!! She has been told that they are running out of options and stopped just short of saying they would not intervene if Nathan got as bad again. He told her all about the preparations being made for the Swine Flu in the hospital and that Nathan would not be priority. Also she was told yesterday that they were in touch with Great Ormond Street Hospital for advice and were told that GOS policy was that they would not intubate or tube feed any child born with such a serve form of MTM and so they did not have any advice as they only dealt with milder forms. Apparently only in the USA would there be aggressive intervention. In other words Nathan only got treatment because they did not know what was wrong with him and they had no experience. Does this mean that if another child is born and they recognise the symptoms that that child would be left to die? Una herself said she has experienced this in the ward as Nathan was in hospital for 8 months and she seem quite a few parents of children with children who had rare conditions being told that nothing could be done. Una who has fought in Nathans corner seems now to be preparing to let him go on one hand and in the other feeling like a bad mother. She has one consultant who wants to push Nathan as far as he can go and another who thinks Nathans quality of life is more important and keeping him comfortable and happy. Does anyone have any thoughs on this? I know I am ranting a bit but It is so hard watching my daught go through this and we all love Nathan to bits but are not sure which way is the right thing for him. Una has been tested and she is a carrier, myself and 4 of my daughters are getting tested next week so it is all very emotive at the minute for all of us.

                          Kind regars

                          Marie
                          Grandmother of Nathan age 3





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