We didn’t know fragile X syndrome runs in our family until my nephew was born. My sister, Desiree, had her son two and a half years ago and almost from the start he didn’t seem like most other babies. He was born with large protruding ears and had low muscle tone. He also wasn’t feeding correctly, which eventually led to a diagnosis of failure to thrive. And he screamed. A lot. Much more than your typical fussy baby.
My sister was concerned and had him tested for a number of different problems. Everything came back negative. Then my mom remembered something my dad’s cousin had told her once, maybe 26 years ago. He’d said something like, ‘We had children with fragile X and you might want to think about that when it comes time for you to have kids.’
That was the clue we needed. What came next has made a big difference to my family. It even changed the way I’m thinking about my career.
“My sister was matter of fact about the results. She’s science-y like me.”
Desiree had Roan tested for fragile X syndrome, a genetic condition linked to intellectual disabilities, which can be profound in some cases. We learned that the gene responsible for fragile X syndrome is called FMR1, which is on the X chromosome. The FMR1 gene shows up in four forms and is characterized by the number of repeats of a pattern of DNA called CGG repeats. The greater the number of CGG repeats, the more severe the condition.
Roan has more than 200 CGG repeats. Above 200 the FMR1 gene shuts down, or methylates, which means it can’t produce a specific protein. The lack of this protein is what causes fragile X syndrome. Roan has a full-blown case of it.
My sister was matter-of-fact about the results. She’s science-y like me, with a masters that involved tracking salamanders in North Carolina. I’m getting a masters in cancer research. The news gives her a chance to find ways to support Roan. He’s doing okay but still too young for us to know for sure how severe his case will be.
“Usually people are horrified. I just find the whole thing really interesting.”
After finding out about Roan my sister and I became students of fragile X syndrome. We’ve learned that we – along with my Dad – are all premutation carriers, which means we have 55 to 200 CGG repeats. I have 101 repeats, slightly higher than my sister who has 85. Premutation carriers have an unstable mutation of the gene and symptoms can develop over time. My Dad, for instance, is now experiencing some memory loss and tremors. Other symptoms include being especially susceptible to anxiety and depression, especially if you’re a woman. And early menopause.
Usually people are horrified on getting news like this. But, like my sister, I did not freak out. If anything I just find the whole thing really interesting. I’m also relieved. I pretty much knew I was a carrier and had been frustrated by not being able to get my repeat number. Finding out that it’s higher than 100 means I have a 50 percent chance of having affected sons.
This will definitely change how I have a family. I have the option of going through IVF with sorting to make sure the embryo is healthy. But IVF is expensive. Whether I can afford to do that kind of depends on how my career plays out. I might just go ahead and get pregnant and see how it goes. If we do have biological kids we’ll probably just have one.
“The Counsyl experience was so great I’m thinking about switching careers.”
We may also decide to adopt. I’m engaged to Donny who’s awesome. He’s half Native-American and we’ve talked about adopting a Native-American baby, which I think would be cool. Finding out that I’m a carrier hasn’t changed the way Donny feels about me. He’s a calm person and doesn’t let things bother him. We have a nice life together. He manages a bar. We have a couple of cats. We’ll have kids however we’ll have kids. Since I’m only 25 we have time to think about it.
Taking the test with Counsyl was such a positive experience. From the moment I ordered the test to the time I got the results things went smoothly. What really stood out for me was my meeting with the genetic counselor.
It was so great I’m thinking about switching from a career in cancer research to genetic counseling. Right now I’m a lab rat and do bench work. I don’t mind it. But I don’t like not interacting with people. I like what genetic counselors get to do – sit with people and explain the science of genetics and how it affects them. I think I’d be good at that.
March 17, 2021
NAVIGATING YOUR BREAST AND OVARIAN HEALTH IN THE (NEVER-ENDING) ERA OF COVID
It has been almost a year since most of us found ourselves in the completely unchartered territory of “sheltering in…Read more about NAVIGATING YOUR BREAST AND OVARIAN HEALTH IN THE (NEVER-ENDING) ERA OF COVID
February 25, 2021
I Am Glad to Know: The Importance of Carrier Screening Through the Voice of a Carrier
This Sunday, February 28th, is #RareDiseaseDay! To raise awareness and support for the rare disease community, Myriad Women’s Health partnered…Read more about I Am Glad to Know: The Importance of Carrier Screening Through the Voice of a Carrier
December 23, 2020
Myriad’s 7 Greatest Hits in 2020
Before we say goodbye to 2020, we’d like to thank and recognize our partners. Together, we ensure patients have access…Read more about Myriad’s 7 Greatest Hits in 2020