When my cousin Nathan was only 2 years old, he was diagnosed with Autism. Then at 2 1/2 Nathan was co-diagnosed with full-mutation Fragile X Syndrome.

Fragile X is a genetic condition that causes a malfunction in the FMR1 gene (responsible for cognitive development) resulting in intellectual and behavioral learning challenges, and various physical characteristics such as large ears and an elongated forehead. FXS occurs in both males and females. However, males are often more affected than females. This is due to Fragile X being an X linked disorder. While males only have one X chromosome, females have two. Therefore, males are more often affected by the full mutation of Fragile X.  The second X chromosome that females have often masks the cognitive and behavioral effects of Fragile X. This is the case for me! I'm 27 years old and I do not possess any cognitive or behavioral delays. 

I remember when I was given the news about fragile x becoming a reality for our family from my aunt. No one in our family had heard of Fragile X before. It wasn't until sometime after Nathan's diagnosis that we learned how Fragile X became prevalent in our family. My grandfather was diagnosed with FXTAS (Fragile X Associated Tremor/Ataxia Syndrome) in his late 60's, which occurs in the grandparent of children with Fragile X. Symptoms of FXTAS are Parkinson's Disease, Alzheimer's disease, Tremors, and other neurological conditions. Sure enough, my grandfather was diagnosed with Parkinson's Disease. We were then told by a genetic counselor that it would be a good idea for myself, my older sister, and my mother to get a genetic testing done to determine if we also carried the Fragile X gene. At the time, I was still only 15 years old. I remember making the decision to wait to get tested. I just didn't feel like I needed to know yet. I wanted to focus on supporting my aunt and my cousin. I quickly became an advocate for my cousin. I educated myself on FXS alongside my aunt. It wasn't until the age of 17 when I felt it was time that I wanted to know if I carried the Fragile X gene and what it might mean for my future. My sister had gotten tested before me, and her results were negative. She did not carry the fragile x mutation. It was at that point that I knew deep down I was going to be a carrier of Fragile X. My genetic counselor helped me through the process of understanding what the two possible outcomes were. The first was that I would be a pre-mutation carrier of fragile x. A pre-mutation carrier shows little to no effects of the cognitive or behavioral challenges of fragile x. However, they are at risk for having a child with full-mutation fragile x much like Nathan. As well as developing FXTAS and FXPOI (Fragile X-associated primary ovarian insufficiency. It was difficult at only the age of 17 to process these potential outcomes. Either way, I knew that my future family would look different than I had grown up imagining. Some of the effects of being a carrier of Fragile X is the struggle with anxiety and depression. It took me some time to realize that I even struggled with both of these things. For the next few years after my diagnosis, I remember never wanting to talk about it with anyone. I basically acted as if it didn't exist in my life. I just distracted myself with school and being an advocate for my cousin Nathan. In 2018 I attended my first Advocacy Day with my aunt that is held by the National Fragile X Foundation in Washington D.C. It is a time to come together as a Fragile X community to meet with our legislators and not only create more awareness of fragile x, but also request that fragile x continues to be kept on the list of rare diseases that receives funding for research. After all, there are just over 1.5 million Americans affected by fragile x syndrome. It was one of the most impactful experiences for me. I left advocacy day more impowered to talk about fragile x with my friends and family. It was still difficult at times for me to talk about how fragile x affected my own life. I found it easier to just tell my cousin Nathan's story. After all, Nathan has been my biggest inspiration since receiving my diagnosis. Nathan is now 13 years old, and it has been one of the biggest blessings of my life watching him grow up into the kind, smart, and caring boy that he is. Does Nathan have his struggles? Absolutely! But don't we all? Some of Nathan's gifts are making others laugh, feel joy, and likes to be helpful to others. Nathan can also sense when you are angry or sad and wants to make sure that you're okay. Nathan is full of compassion and has the most impeccable memory of anyone I've ever known. He is the reason I have become more open and unashamed about my diagnosis. He is the reason I no longer live in fear of the potential of having a child with fragile x. For a time, I thought that my diagnosis would change my desire to have kids. I also thought it would change what I thought about myself. A lot of anxiety and depression set in during this time. I questioned why I wasn't very smart in school. I just assumed it was because of Fragile X. But in reality, that wasn't the case. As I continued to watch Nathan grow up, the more encouraged I was to be more open and content with whatever outcome is given to me. Fragile x doesn't define who I am, nor does it define who Nathan is for that matter. It will always be a part of my family's lives, and that is a reality we have to accept one day at a time.