Being a Female with Fragile X Syndrome

Written by Carly Dolan
Posted 09-19-2023

A woman with dark brown, braided hair smiling at the camera.

Fragile X syndrome is a genetic disorder that is caused by changes in a gene called FMR1. FMR1 usually makes a protein called FMRP needed for brain development. People who have FXS don’t make this protein.

Girls are usually less affected by it than boys. This is because females have two X chromosomes (XX) and males have one X and one Y chromosome (XY). Fragile X is not commonly known but it is the leading genetic cause of autism. Approximately 2-6% of children with autism have fragile X. It could be diagnosed by a simple blood test.

An estimated 100,009 Americans have fragile X syndrome. It affects me socially and with learning. I am very high functioning and can do a lot of things like everyone else. I hope to inspire people and bring more awareness to fragile X syndrome!

I was diagnosed at the age of 2 at the Children’s Hospital in Richmond. Being a female with fragile X is harder because girls are usually higher functioning and it is often categorized as a hidden or invisible disability. Most boys with fragile X have more severe developmental and cognitive delays. It’s definitely a lot easier to find resources about fragile X and a lot more people are starting to at least recognize some basic information about it and the name fragile X. An estimated 100,000 Americans have fragile X syndrome.

I am currently a student at Brightpoint Community College, studying liberal arts (communications) and have a part time job working with dogs. In my free time, I love being involved in advocacy work and taking photos of wildlife. My advice to others is to never set limits for yourself because of your disability.

Your disability should not define who you are as a person. I wouldn’t be where I am today, if I didn’t push myself outside of my comfort zone to try new things.

Thank you for taking the time to read my story!