A Personal Story of the Diagnosis of SMA â€“ Toddler
Esther and Frank talk about the diagnosis of their 2 year old daughter, Maeve.
So the first signs of Maeve showing a little bit of delay in terms of development came at around two months. We went for a regular checkup with her pediatrician. Her pediatrician had noticed that she wasn't lifting her head while on her tummy and at that point, he was suggesting that we do more tummy time. And I didn't really think anything of it, I thought it was just, you know, it's just a normal type of guidance that he was providing everybody. And he asked us to sort of, you know, do this tummy time more often and then we would check again on her progress at age three months and that's exactly what we did. And then at the three-month stage, we went to her pediatrician again for a checkup and he seemed to be a little bit more concerned at that stage. So he said, look, you know, there's really not that much progress. He said, I suggest that you really keep a close eye on it and then, you know, decide then maybe in a month to take additional action. And I didn't know what action that was at that point so I just said, okay, we'll keep an eye on it. And again, I wasn't really too worried about it because I knew that every child develops at their own pace. And, you know, at basically four months it seemed like she really wasn't making any progress. So at that point, the pediatrician suggested that we see a pediatric neurologist and that already, you know, sent shivers down my spine. I was like, this is, you know, more serious and that we had to see a specialist that was unusual for us because our first child was fine. And so went to the doctor that he had recommended here in the city. We met with him and you know he immediately did a clinical observation and noticed that, you know, she had low muscle tone and had started to recommend blood tests. So at six months, the pediatric neurologist had recommended the next stage, which was going to be a series of tests. And starting with the least invasive one was the genetic test and he recommended a geneticist and we went to him and had a blood test done and, you know, he observed her. And six weeks after that, we got the diagnosis and that was almost a year ago today. It was basically August 10, 2010. And the results were SMA type I and the reason it was type I, he had determined was that because of the onset of the symptoms. You know, the early onset of symptoms showed that she was a type I. He also then referred us to a clinic that specializes in SMA. So the diagnosis was confirmed by the neurologist at the SMA clinic who actually categorized her as a strong type, SMA type I that may ultimately develop into low functioning type II, which is classified as inability to sit on supporters. And he was correct in that because, you know, Maeve has been through a lot. You know, she was shown great signs of strength through everything.
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- ID: 16914
- Source: DNALC.SMA
- Download: MPEG 4 Video
Ron and Debbie talk about their son’s diagnosis with Type II SMA.
Dr. De Vivo discusses the diagnosis of SMA.
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.