I have been trying really hard to absorb as much information about Drew's disorder. I hope to develop a foundation or support group for families who are faced with this diagnosis. When we were in the hospital with Drew and they described to us the metabolic pathway that was disrupted, we searched for days to find other people that might be able to help us. We found no one. I have searched through numerous scientific studies to gather more information but it seems like the more I read...the more questions I have. Here is the study I have been recently reading over and over: http://www.ncbi.nlm.nih.gov/books/NBK1328/.
Take a look and tell me what you think!
That is a very interesting article--though it's definitely not light, relaxing reading. :o) No wonder you are on information overload!
ReplyDeleteWere Drew's symptoms different from the infantile presentation symptoms described? I seem to remember from your descriptions that his symptoms were opposite--for example, the authors presented poor appetite and failure to thrive as potential symptoms of the disorders in their article. But I thought that Drew had a very healthy appetite--and was doing really well during those first weeks of life. Do you think these differences indicate that Drew's disorder, while related, could have been something more rare than previously thought? Potentially unknown to researchers?
Have you tried to contact either of the authors? Maybe they could offer some answers to the sea of questions you are swimming in.
On a side note, you are brilliant, dear Brit! I am so impressed that you are reading this stuff and understanding it--I kept getting lost and confused. I am so inspired by you (in more ways than just one)!
@Tiffany-You are so right!! It is baffling to me because he was always hungry..ferocious appetite! Most of the case studies present during the first month with poor weight gain and failure to thrive but he had none of that. For all intensive purposes we thought he was perfectly healthy. No symptoms presented until his first seizure at two months. CRAZY RIGHT!! That has to be the most difficult part. It could definitely be something even more rare or rather not even discovered. One of the authors has been consulting with the geneticist that oversaw Drew's diagnosis and treatment. However, he would not come see him, or have us go see him until the genetic testing was done first...we didn't get that far.
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