So now we know Coopy has SMA.
When I talked to the lady at genetics, the one who broke the news, she did her best to comfort me. I'm sure she knew I was devastated. I remember her telling me "just please, please stay off the internet. Please don't google anything right now."
She assured me that Nationwide was on the cutting edge of SMA research and it was one of the best places we could go to figure out where we go from here.
Although she was helpful and somewhat comforting, there was one thing she said that rocked me to my core. She told me he has zero copies of the SMN1 gene and they would need to test more to see if he had any copies of SMN2. She told me when we got to Nationwide they would test to see if he was eligible for gene therapy.
I had learned from my previous internet searches that there are two new treatments for SMA that have completely changed the outlook for this disease. But when she said they would test to see if he was eligible I thought that meant there was a chance he wouldn't receive treatment. And if that was the case we would literally just watch our baby die. Because SMA kills children. If it isn't treated, it's not a matter of if but when the child will die.
Thankfully I spoke with Dr. G on Tuesday and he assured me that we would be able to receive at least one of the treatments. He called me Tuesday afternoon just to check on how we were doing. He got the results of the SMA testing and just wanted to reach out to make sure we didn't need anything or have any questions.
I can't say enough about this doctor. He literally saved our son's life. We have seen so many doctors and done so many tests and all it took was a 20 minute visit with this man for our son to get his diagnosis. We've been going down this road since October. Almost six months of unknowns and what ifs and worrying about never knowing what was causing all of this. All it took was a doctor who cared enough to listen and to use his medical knowledge as well as a little bit of common sense to save our baby.
We owe him everything and there is no way we will ever be able to repay him for what he's done for our family.
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