Yes Patrick did have MRI's done at different times in his life. The first MRI was at @ two months old at UCONN NICU in an attempt to diagnose him. Not easy to do with vented kids bye the way. This was before he was actually diagnosed with MTM at which time it showed Cerebral disgenesis (smaller brain parts) and at first the neurologist involved thought this indicated he would have a quality of life similiar "to the worst down syndrome child we knew." His words. But other doc's disagreed with this and after being diagnoased with MTM by muscle biopsy, He was then transfered to Yale Childrens. His neurologist there, who stayed with him the rest of his life and was also a specialist in premature babies, stated she believed the smaller brain parts were indicative of his 2 month premature delivery. He in fact had normal cognitive deveolpment and above normal intellegence until @ age 6-7, when his cognitive development began to slow and eventually reverse. At first we, care providers and teachers, believed that the fact that he was sick so often interfeared with his cognitve abilities. For instance often very tired from fighting pneumonia's, gall stones, infections ect. and at times it seemed like he would just check out on us. But when MRI's were done around age 6, he showed thicking of the dural membrane in a couple areas around the brain. Per all four neurologists involved they never saw this without trauma involved and that was clearly not the case with him. Also at this time they did EEG's and EMG's and spinal taps to test brain fluid pressures during a week stay in the hospital. No high fluid pressures were found. This series of tests is when they found he was having petite maul seizures at multi focal points of the brain. This made it hard to treat as seizure medication is often specific to what part of the brain the seizures are stemming from. As he progressed at times he would be better than others and he was treated with a combiantion of different seizure medications and ativan. The ativan helped, seizure meds did not really work. Further MRI's were done between 6 and 8 years old and showed thickening of dural membrane came and went. He had a great run for a few months in 2007 and 2008 and then seizures increased dramatically. The brain failure went along with it and eventually caused his death at 8 years old. It's difficult for us to say if more brain testing between age 2 months and 6 years old would have helped because the medication never really was very effective for Patrick and his changes eventually went so fast. I know many of our children are so much alike but due to differences in MTM kids it's hard to say what's right for one or the other sometimes. For us if we had it to do over....we would probably get some brain testing done every couple of years at least. It is only speculation now, but who knows what earlier discovery and intervention could bring in terms of better treating.
Take care and good luck,
--- In Myotubular_Myopathy@yahoogroups.com, Christy Davis <gagirldavis@...> wrote:
> Did Patrick have brain scans done (ie, cat, mri) and if so did it show anything. Josh had either an mri or cat when he was 6 months old during the diagnosing phase to rule out white matter. Wondering if I should have his doc do another scan. What are your thoughts. I forgot about the calicul stuff that you all brought up in July, will be bringing that up to with his new peds.
> Christy Davis
> mom to Joshua
> From: patrickmbowers <pmbowers@...>
> To: Myotubular_Myopathy@yahoogroups.com
> Sent: Saturday, September 5, 2009 12:50:37 PM
> Subject: [Myotubular_Myopathy] Re: ?'s about bones and vit. D
> Our Patrick (XLMTM)did not have any fractures during his life but he did take vitamin supplements (A,D,E,K,) mostly regarding nutritional concerns (Patrick was on Elecare). He did have liver disease and this caused him to have difficulty processing quite a few things like calcium for instance. He had gall stones which were calcium based (only two types of gall stones, sorry we forget the other type) and there is a connection with D and Calcium in that your body can't absorb calcium without vitamin D. We also know that with liver disease vitamin D serum levels may be normal, but vitamin D can not be activated for use by the body. Patrick did have brain issues beginning with a slowing of his cognitive abilities around 6-7 years old and then eventually he had numerous Absence Siezures. Lots of anxiety around this for him which got worse over time and eventually his brain issues caused his death at 8. We are not sure if his inability to process
> calcium/vitamin D may have contributed to his brain damage however we believe more and more that there is some corralation. At the conference Dr. Beggs talked about the fact that calcium is used by muscle and our boys can't process it like normal muscle cells can. He is in fact doing work with that. Carol did present to him the question, since our boys don't process calcium correctly could this be why our Patrick had calcium based gall stones? Dr. Beggs thought this needed to be considered further. We question even further knowing that calcium can't be processed by the body without vitamin D, is giving our boys more calcium and vitamin D causing further problems for them by the calcium spilling into the gall bladder then creating stones or even is it spilling into the brain and causing degeneration? For instance like plaque build ups in alzheimer patients. We're not sure where to go with this inforamtion but Betsy's concerns seemed very related to what
> we are speaking about and it's seems with more of our boys living longer (a great thing!) these brain issues are presentlng more and more. We spoke to at least two other families with boys experiencing brain issues at the conference, and although we're not sure how, making sure this information is shared is a great step in that direction. For Patrick this is to late, but we have to keep this dialogue going and even present these questions to doctors more. A good example of why doctors need to hear this is that Dr. Iannoconne (neurologist from Dallas who presented at the conference) stated in her presentation that there were no brain issues as yet reported with MTM boys. We did let her know that this is not true and that along with Patrick there are others now experiencing similar brain issues. She too sugested this is relativly new due to boys living longer. Thank you Betsy for putting this question out there and anyone can contact us anytime to speak
> about this issue further via e-mail or our number is in the family directory created at the conference.
> Patrick and Carol Bowers
> Old Lyme, CT
> --- In Myotubular_Myopathy @yahoogroups. com, Betsy Grant <betsy@> wrote:
> > I'm wondering who else out there has boys who have had a number of fractured
> > bones due to them being very fragile?
> > I am curious if certain other things go along with this in general.
> > Kyle has a femur that is bowed, which for all the world looks like a vitamin
> > D deficiency. He has been tested and his blood levels of vitamin D are
> > normal.
> > He also has had a neuro-developmental specialist say that he has a slowing
> > of information processing in his brain.
> > He also has had anxiety for a number of years, which is treated with an
> > anti-depressant, fish oil, AND vitamin D!
> > I read an article today that says scientists have found that people who are
> > low in vitamin D have depression/anxiety, and SLOW processing in the brain!!
> > kind of makes you wonder if there is something about some of the boys having
> > some sort of vitamin D metabolism disorder. (is it processed in the liver,
> > does anyone know?)
> > Just a thought!
> > Betsy