Noonan Syndrome

(De Novo)

By Anonymous

One year ago, I started seeing my fertility clinic. I felt it in my bones that pregnancy for me would not be easy. We did all of the tests, and it turned out I had a blocked tube. Months later, I got the surgery, and it was a success. However, the chance of getting pregnant naturally was less than 5%. My doctor had to let me know I would probably have to do IVF to conceive. 

6-7 months later, I had my transfer and it was a success. I was pregnant! I always heard stories about IVF being so terrible but I had the best possible situation happen to me. I was so confident in this pregnancy, I knew I wouldn’t MC and that I would have this baby boy.

LOL to that because at 16 weeks, I went to my MFM for a pre-anatomy scan. This happened on Christmas Eve. I thought the baby looked good, but the tech left the room, and it made me spiral. I’d heard stories about the tech leaving NOT being a good sign.

Sure enough, I got a call from my MFM that the baby had weird findings. He would refer me to the Children’s Hospital of Philadelphia. He thought it could be skeletal dysplasia. I hung onto hope, though. Baby was only 16 weeks at the time. CHOP called me a few days later and said they would wait for me to be 20 weeks because things could change. Again, I felt hopeful.

The genetic counselor suggested an amniocentesis and said I could do it before or I could wait until I went to Philly. I decided to wait, thinking it would all work itself out and be fine.

We went to the children’s hospital for the scan and tests. Baby’s issues were resolved on the anatomy scan, BUT there was one thing that was questionable. His brain. His corpus callosum was short. They suggested I do an amniocentesis to rule anything genetic out.

2 weeks later, I get the call that my baby has Noonan Syndrome. A syndrome that is a spectrum and one they cant give me any predictions for. Baby could be mild, baby could be severe. I knew in that moment when I looked it up, my decision was made. My husband wasn’t home at the time and he was in denial until he started to do his own research. It didn’t look good.

We knew we would not have this baby. I sat and cried on his lap, utterly shocked that this was how our story would end.

I joined the support Facebook group for NS, and it validated my decision. I couldn’t bank on the baby having a mild case. I couldn’t bank on him going to full term. I went to my OBGYN to let her know I would be terminating the pregnancy.

A week later, at 23 weeks, it was over. The D&E experience wasn’t bad. My doctor was amazing, and I felt in such good hands. I remember the day before the procedure just being so tired. I was so tired of the weight I was carrying. The sick baby, the dilation sticks, the pain of the tragic loss, I would be carrying on my shoulders. I have NEVER been suicidal, but in that moment, I didn’t care if I died on the table. I did feel relief afterwards. I was sad that this happened to me, but I was glad I wouldn’t be bringing a sick baby into this world.

Today I feel peace with the decision we made. I feel like a survivor of what my life could have looked like. You can’t find many stories of women who find this diagnosis in utero. While I hate what happened to me, I feel lucky that I was able to decide how my story ended.

My heart goes out to everyone who is in this shitty club but I appreciate you sharing your stories and being a beacon of hope and light in the darkest time in our life.