SMA Results

I sent Joyce a follow-up email asking if she could at least provide me with my SMA results if they have come in yet. She told me that she was looking into that and if she found them, she would forward them to Dr. Mottla so he could discuss them with me at our meeting. Well, she ended up calling me back to tell me that I had one (I think she said one) copy of the SMN 1 gene, but she wasn't sure what that meant, so she asked Dr. Mottla about it. Apparently, the lab wrote that I had a "reduced carrier risk, but they couldn't eliminate the risk." So, Dr. Mottla wants me to meet with the genetic counselor again to get the percentage of risk I have in passing the gene along.

I just learned from one of my High FSH girls (who is an SMA carrier) the following very helpful information:

"They are looking to see how many copies of SMN 1 gene you have. If you have zero copies the means you have SMA (like Zachary), If you have 1 copy of the SMN 1 gene that means that you are a carrier and if your Dh only has 1 copy also that means you have a 25% chance of having a baby with SMA (which would be like my Dh and I). If you have 2 copies of the SMN 1 gene then you don't really have to worry at all (though with genetics we can never say never). So after reading this does it help? I was confused about what your Re said. Also if you are a carrier your Dh needs to be tested to see if he is a carrier."

So, I emailed Joyce back to see how many copies of the gene I have. I also scheduled an appointment with the genetic counselor, but if DH gets tested for SMA and his results come back fine, then there may not be a need for the consult.