What is Fragile X?



Today, July 22nd, is Fragile X Awareness Day. When this topic was assigned to me, I thought it sounded familiar but couldn’t immediately place why. So, I did what I always do and researched it. And then light dawned. My son was tested for Fragile X, which is defined by the National Fragile X Foundation as “a genetic condition that causes intellectual disability, behavioral and learning challenges and various physical characteristics”. 


As part of my son’s work with his pediatrician, an occupational therapist, and speech therapist during Early Intervention for Asperger’s (on the Autism spectrum), it was mentioned that he should be tested for Fragile X. Spoiler alert: He doesn’t have it. Mainly, this was due to the following traits that he has/had, which are common in a male who has Fragile X:

  • Long face
  • Ear infections
  • Autism
  • Hand flapping
  • Poor eye contact
  • Sensory disorders

With all of that combined, I can see why we were referred to a neurologist by my son’s pediatrician, especially considering that Fragile X is the most common genetic cause of autism. However, post-CAT scan and neurologist assessment, it was determined that Fragile X was not the cause of my son’s autism and instead his long face comes from his parents (we both also have long faces) and ear infections were something I also battled whilst growing up.

I learned during the appointments that Fragile X happens more often in males, although it can affect females as well. Thankfully, I also found out (before learning that my son didn’t have Fragile X) that Fragile X doesn’t affect life expectancy at all as there aren’t any life-threatening disorders that go along with the syndrome.


- See more at: http://blog.nticentral.org/#sthash.kZFM8psE.dpuf
Mary E. Hart is the Digital Communications Specialist for NTI. She is also a freelance writer, editor and content strategist, specializing in writing copy that converts. Previously, she worked in Demand Generation marketing for UBM Tech and Ziff Davis Enterprise. In her spare time, Mary is working on the next great ghost novel.

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