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A Personal Story of the Diagnosis of Spinal Muscular Atrophy

James talks of having a child with very severe Type I SMA Originally created for Learn About Spinal Muscular Atrophy ( ) TRANSCRIPT: The pregnancy was pretty normal. You know, all the way through the tests were all fine. Probably, in the seventh month of the pregnancy, the baby stopped moving so that was a concern obviously. We went in for additional testing. They said everything was fine. They would do tests to check the baby's reaction to stimuli and they were all fine. We had had a child who had been fine, healthy, normal and we assumed it would happen again. The baby was born and it was pretty obvious immediately he wasn't well. He wasn't moving or moving very, very little. You know, normally the doctors bring the baby over and say congratulations, you have a baby boy or a baby girl, they didn't do that. They kept him. We were very scared right away. I saw him. He was a sweet little boy. He just wasn't crying much. He was trying to cry, but the noise was -- he couldn't make -- he couldn't really cry and he couldn't move. It was this terrifying day. And so from that point on it was, what's wrong, what's wrong with our baby, what's wrong with our baby. We heard the letters SMA for the first time probably the day after he was born. I think they were trying to run through different things and try to figure it out. It was one of the things they thought he might have. So they started doing different types of tests to figure it out, genetic testing and all sorts of different testing to figure out what was wrong. And then they started focusing the testing more on that figuring out what type of SMA it was. They started doing testing on us, genetic testing on us to see if we were -- we had the genes. And it was sort of that was the focus and we just assumed that that's what it was. It wasn't a good thing for us or a happy thing. You know, when you look up SMA, it says pretty clearly untreatable, uncurable, fatal. You know. So then it was just sort of coming to terms with that and just waiting for the confirmation of the testing and trying to spend as much time with our boy as we could. You know, he was in the NICU, he was on a respirator, he couldn't move. From the neck down, he couldn't move, couldn't lift his hands, couldn't move his fingers, couldn't do anything. And then the diagnosis officially came and he died eight hours later. It probably took ten -- I mean ten or eleven days. He lived for eleven days.
Length: 03:16


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