A Personal Story of the Diagnosis of SMA -Infant

James talks of having a child with very severe Type I SMA.

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 just 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. You know, like any parent, like you hear your child, your baby is diagnosed with an untreatable, incurable, fatal disease and you want somebody to tell you it's not true or you want somebody to tell you that they can fix it or help you. But ultimately, it is what it is. You go to the hospital or you're at the hospital every day and you know that your kid is going to die. There's nothing you can do about it. There's nothing anybody can do about it. They can tell you the mechanics of the condition or why it happens or what the genes are, but it's still the same. You know, you still go to the hospital knowing that your child is going to die. 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. Even before he died, we started seeing a grief counselor at the hospital. Our families and friends were there every day with us. You know, people were great, but at the end of it, it's still just me and my wife, you know, and it's still our child and when we're alone at night, it's just us and how do we deal with it. And on some certain level, there's nothing anybody can really do. You know, there's nothing anybody can really do or say to make you feel any better.

Spinal muscular atrophy, SMA, RNA, mRNA, splicing, gene, genetic, DNA, antisense, motor neuron, splice, Testing, APGAR, biopsy, SMN1, SMN2, psychologist, neurologist, neuropsychologist, clinic, hospital, neurodegenerative, diagnosis, Type 1, Type I, pregnancy, Frey, NICU, confirmation, respirator, pediatrician, specialist, development

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