A Personal Story of the Diagnosis of SMA â€“ Child
Ron and Debbie recall their 8 year old son Dylanâ€™s diagnosis with Type II SMA.
Debbie: We were actually in Walt Disney World on vacation and I started to notice that he just wasn't like other six-month-olds who I was seeing at the theme parks. And then when we came home, we just noticed he wasn't able to hold his head up anymore as he used to be. So we took him to the pediatrician and the pediatrician said that he clearly had low tone and she referred us to a neurologist right away. That afternoon, we actually went to the neurologist and when we walked into the neurologist, he took one look at Dylan and said, I'm pretty certain that he has SMA and we really dumbfounded, never heard of SMA. And he said well, he'll probably die before he's two and again we were -- Ron: That was the first visit with him not doing any diagnosis or any blood test or anything so. It was shocking. Debbie: It was a little shocking. So we then went on for a series of tests, blood tests, MRIs, more blood tests. We refused to do the muscle biopsy. And then it was the waiting game for three week for when the results came in. Ron: The results came in.
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- ID: 16915
- Source: DNALC.SMA
- Download: MPEG 4 Video
Dr. De Vivo discusses the diagnosis of SMA.
Esther and Frank talk about the diagnosis of their daughter, Maeve.
Steve remembers his early experiences with SMA.
James talks of having a child with very severe Type I SMA.
Dr. De Vivo provides an overview of SMA, and describes the four SMA types.
Frank, an SMA parent, describes the genetics of SMA.
Dr. Sumner explains how SMA is related to changes in the SMN1 and SMN2 genes.
Dr. Sumner explains what causes SMA.
An animation shows how antisense oligonucleotide therapy for SMA utilizes RNA splicing.
An animation shows alternate splicing of the SMN2 gene.