We got our results back from the amniocentesis today and our little boy has a copy of each SMN gene, which means it is highly unlikely that he will even be a carrier! I was in the middle of my first client at school this afternoon when the genetic counselor called me. Of course that’s who I assumed was calling without looking at my phone and I started sweating and got a little anxiousness thankfully I was finishing up with the cut I was working on (which I got a perfect score on – go me!). I went outside called the genetic counselor twice, left a voicemail and then called the midwives who were receiving he fax from the genetic counselor as I was calling. Then of course the genetic counselor called me back and told me the good news! I ~almost~ started crying! But I was able to keep it together. Jacob and I are so thrilled about the news! So that is my final update on this post! Thank you for reading!
I had the amniocentesis today, I was pretty much panicking up until the actual procedure. We got to see our little nugget as well which was super exciting and had a bunch of pictures to take home. The procedure was relatively easy, definitely easier than I expected, I think just the anxiety of a needle going into my stomach like that kinda freaked me out. I have about 1/2 an inch layer of fat on my stomach (hard to believe but I swear it’s there) so when the needles went in it was probably more bizarre feeling than anything. We will get the results back in about 3 weeks, so keep an eye out until then!
Today we met with the genetic counselor, and I’ll be honest, I’m a little annoyed that I had to miss an hour of class for this. She pretty much had each of us break down our family history to see if there were any other conditions we needed to discuss, then she explained a little bit more in depth how SMA is inherited, it was a lot of talking from her while Jacob and I listened. I didn’t really have any questions for her to begin with or even after everything was explained. She also explained the testing that can be done to check for SMA in the fetus, which I was already familiar with to begin with. We went ahead and scheduled the amniocentesis for Wednesday 2/1, so fingers still crossed.
We had our second appointment today, and that is where they decided to tell us Jacobs blood test results. We are both carriers of SMA and will have to meet with a genetic counselor at one of the biggest hospitals in our area to figure out what to do next. Of course, I couldn’t help but cry when the nurse told me that, and continued to cry the whole way back home, and for like 10 more minutes at school. No this does not mean our child has SMA and is going to live for a few months and then die, but I am a worst-case scenario thinker. I can’t help it. We find out what the next steps are at our appointment, which is Monday morning. If the baby has SMA gene then we will have to deliver at a hospital for safety reasons, if there is no SMA gene then we continue business as usual. That’s all I have for now, hopefully I will be back on Monday with more information.
Original post 12/28:
So I received a call from one of the nurses at the brithing center yesterday about some genetic testing that they ran on my blood. Everything from all of the tests came back normal, except for one thing. I am a carrier for Spinal Muscular Atrophy. For those not familiar with it, it is the most common cause of infant death and the second most common inherited disorder, after cystic fibrosis. SMA causes progressive muscle wasting and weakness due to loss of motor neurons in the spinal cord. SMA is inherited through a autosomal recessive pattern, meaning that both parents have to be carriers of the SMN1 gene. I spent a great deal of yesterday getting worked up and upset about it (sorry little baby inside me). I am very quick to jump to worst case scenario, but after speaking with the genetic counselor I am feeling much better. He pretty much explained to me that we can have Js blood tested for the gene, which will be done tomorrow, and if he doesn’t carry it I won’t have anything to worry about. The tests aren’t always 100% accurate so I will probably still worry, but I am definitely way more calm than I was yesterday. However, if J does carry the gene, then there is a 25% chance that our child will end up with SMA, and we can do an amniocentesis to check in on baby for our peace of mind.
That’s all I have for now, and right now we are in the process of moving into a larger space and I start school in a week! So, I don’t have time to think about it which is nice for me, especially since I jump to the worst of conclusions for almost everything. For the next week I won’t be just waiting around for Js test results. Hopefully I’ll have an update soon! xx