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Re: [Myotubular_Myopathy] The latest on Javad and other stuff

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  • ANN MILLER
    MessageHi Janice, Thanks for the info/website. We have 2 more places to see chairs at this weekend. I am leaning toward the Quickie mobile chair at this
    Message 1 of 5 , Jul 1, 2004
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      Hi Janice,
       
      Thanks for the info/website.  We have 2 more places to see chairs at this weekend.  I am leaning toward the Quickie mobile chair at this time.
      We went and saw some earlier this week.  I liked the way they are made and it is low enough to the floor/ground that Kyle should be able to
      get in by himself after some practice.  My mom found him a power chair, also a Quickie, at a yard sale last weekend.  He loves it!  He is all
      over the house and loves being able to do it himself. 
       
      I'm glad Matthew has been well.  He needs to enjoy, with all the accomplishments he has made and of course his new Shona Buggy.  Has anyone said anything about giving Matthew vitamin C.  Our doctor wants us to start Kyle on it, she says it should help with colds and flu this coming
      fall.
       
      It is sad about Mattie Stepanik.  Kyle shared a room with him the last time he was in the hospital in May. Mattie was such a fighter.  I wasn't sure it was him until I saw his mother, Jeni, she is also a fighter.  He had just come out of a coma and had lost so much weight, he  didn't look like any of the pictures I had seen of him.  Mattie was suppose to go home the second week of June.  Jeni was so supportive of what I was doing with Kyle, when the doctors told me Kyle should be in Hospital for Sick Children because of his desats episodes, she said that she agreed with my decision to keep him at home and not in a hospital.  Even though she is in a wheelchair herself, she took care of Mattie 90% of the time.  Mattie will be missed by all.  Before we left the hospital, Mattie told Kyle he would be his buddy at MDA camp when he got old enough to go.
       
      Take care,
       
      Darlene
       
       
       
       
       ---- Original Message -----
      Sent: Tuesday, June 29, 2004 8:49 AM
      Subject: RE: [Myotubular_Myopathy] The latest on Javad and other stuff

      Hi All,
       
      Shannon, so sorry to hear about your experiences with Javad. I think it is shocking what you had to go through. It echo's our experiences when we have had to admit Matthew, and I thought it was just because we lived in a third world country! In our circumstances, our panic was further compounded by the fact that we had to go through a whole admittance procedure, and were therefore not at Matthew's bedside.  I really do believe that you need to take it up with the Hospital Administration. We cant afford to go through red tape and poor procedures when our boys are critical. I just heard that Mattie Stepanik died, and it just brought home the reality that our boys are so fragile and although they are fighters, we must do everything to support them. My prayers and thoughts are with you. Just focus on Javad's smile and his soul and send him all our positive energy and thoughts.
       
      I am also sending positive thoughts for Jess and Jack - I hope her absence does not been he is also sick. We in the Southern Hemisphere are in the middle of winter and so far, we are able to keep all the sniffles and colds away from Matthew, but the worst of winter is yet to come.
       
      Darlene, thanks for the e-mail re the sites.  I haven't had time to check them out, but will soon. Great that Kyle got something out of the trip, and I hope that your contacts pan out. I will ask the rep that assisted us with getting Matthew's Shona Buggy to see if she knows any products. They specialise in wheelchairs, and are also able to customise them. I know that she has resources worldwide as that was how she was able to contact us. You know the Law or Synchronicity - or God's Hand. I was surfing the web to find out about wheelchairs, and posted a question on an Italian site re South African suppliers, and 2 days later, CE Mobility contacted me. If you want to look at their site it is www.clinicale.co.za and our contact was Erika.  She is off sick at the moment, but I will ask her if she knows of anyone that can help you.
       
      In general, Matthew is doing well. We haven't managed a trip to the zoo yet as the weather has been to cold and I didn't have any small cylinders. I am off to a presentation tonight by a Professor Steve Wilton who is giving a talk on his experience with Duchene's. I know it is different, but am interested re the genetic side of things. Below find his bio:
       This is a short history of Professor Steve Wilton:

      Associate Professor Steve Wilton completed his PhD in 1983 in the Biochemistry Department, University of Adelaide, one the first facilities in Australia undertaking recombinant DNA technology (gene cloning).  He was appointed Chief Production Biochemist for a small biotechnology company in South Australia before being lured in 1987 to another biotech company in Western Australia.  Research was far more challenging than production Biotechnology and he joined the Australian Neuromuscular Research Institute in 1991. He was responsible for developing and applying molecular diagnostic tests to a range of neuromuscular disorders, sometimes within only weeks of the causative genes being identified.  He is now the Head of the Experimental Molecular Medicine Group at the ANRI.  The group is pursuing a variety of molecular approaches to correct or compensate for mutations in the dystrophin gene that would normally result in DMD.  One of the most promising lines of research is the development of genetic drugs (antisense oligonucleotides) which are showing great potential to reduce the severity of muscular dystrophy.  He is also in charge of a GSK funded high through-put genotyping facility which was established at the ANRI in 1999.  Enjoys fishing, diving (to catch rock lobster), windsurfing, drinking wine, bad movies and plans to age ungracefully.

      Title of talk:  From a party trick to clinical trials. Making some sense in Duchenne Muscular Dystrophy".

      I will let you know if I learn anything.

      Hope everyone is well and going strong.

      Cheers Janice

       


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