Something a little different

I have known all my life that I wasn’t like everyone else, it’s quite literally in my DNA. From the time I was 18 months old, I’ve been seeing geneticists, undergoing tests and being entered into research programs for rare genetic disorders. Now almost 26 years later, I have my answer: Noonan Syndrome.

It all started when I was born with a benign tumor on my chest and a malformed right ear. This raised some red flags for the doctors as they thought it could be a sign of Neurofibromatosis Type 1 — a genetic disorder that could have profound impact on not only my quality of life but also that of my future children. My parents were told to look out for scoliosis (curving of the spine) and hydrocephalus (enlarged ventricles in my brain caused by poor spinal fluid drainage).

I have both; however, I tested negative for NF1.

So my parents (and later my husband) and I embarked upon a 20+ year journey for science to catch up and figure out what exactly I had, and my “reproductive risk.” It took so long that my original geneticist, a lovely octogenarian Irishman, retired. It was when his replacement came aboard, at the same time the Care for Rare genetic study I was in made some headway on my case, that Noonan Syndrome was brought to the table.

Noonan Syndrome is a relatively new disorder brought on by a partial deletion of a gene. It has a wide spectrum of effects on the body and development. In addition to me having said affected gene, it stood out to my geneticist for my short stature, skeletal abnormalities, chest tumor, and hydrocephalus — all of which are markers for Noonan. I’m still undergoing genome sequencing at the moment, but an official diagnosis is more than likely.

When it comes to Noonan’s effects, I got off extremely lucky. According to the Noonan Syndrome Awareness Association, 80% of people with the disorder are born with heart defects, and 25% with intellectual disabilities. Many are also at risk of developing cancer in childhood.

Unfortunately, just because my case appears to be mild doesn’t mean my kids would have mild symptoms as well. With the above odds, and the fact that there’s a 50/50 chance I’d pass on the Noonan-affected gene, my husband and I made the decision not to have kids. We could not in good conscience move forward with starting a family with the knowledge our child could likely have a very difficult, painful, and possibly short life — and that it would be my fault. No child asks to be born, and the idea of our hypothetical baby suffering so tremendously is devastating to think about.

So I am grieving a little bit. Grieving the alternate trajectories my life could have gone on had I not been born with a genetic disorder. To have the mystery be solved is both a relief and a strangely empty feeling. I always knew the chance was high that I would have capital-S-Something — in fact I told my husband right away when we first started dating that this was a possibility. 

I’m grateful that he’s been so supportive the whole way through, grateful for my family on both sides and my friends, and above all grateful for science. And to you for reading my story.