An Introduction: Who Knew a Tiny Little X Chromosome Would Have Such an Impact?

In my continuing journey to learn and properly deal with the challenges associated with my son who has Fragile X Syndrome and Autism, I've started reading blogs written by others with similar journeys.  One thing I noticed immediately, the most active bloggers are the ones with younger children.  Josh is 16 (almost 17) and he is quite the BIG dude.  I'm hoping to start a new trend and talk about our life with "The X Factor After Little Becomes Big."
Josh and his Fragile X Syndrome has always had a huge impact on our family life.  For my friends and family still learning about his diagnosis, I'll break it down for you.  Honestly, I can't even remember knowing I had an X chromosome before I found out I had one that was "normal" and one that apparently was a little off, thereby making me a "carrier" of Fragile X.  My daughter, who is now 24, got my "normal" X chromosome, and is not affected (although that's not fair to say, because she really was even though she didn't inherit it personally).  My son got the one that's a little off and because it multiplied when it passed to him, Josh has the "full mutation" and is severely affected by Fragile X Syndrome.  He is impacted with almost every characteristic possible -- autistic behaviors (he's flappy when he's happy), sensory issues (crowds, bright lights, being touched gently, direct eye contact, loud noises, new environments, etc. upset him greatly), cognitive deficits (mentally, he's still a toddler but looks like a linebacker), low muscle tone, hyper-extending joints, delays in speech, fine motor and gross motor skills, anxiety, and mini seizures.  We have dealt with aggression ("fight or flight reaction"), usually due to sensory overload or the inability to communicate.  When we moved from Virginia to Kansas (Josh was 5), most of my neighbors met me when I was chasing Josh down the street, throwing him over my shoulder and taking him back home ("fight or flight reaction").  I'm pretty sure he was running to look for our house in Virginia because he didn't understand what was happening in his world.  Top locks were installed as quickly as possible on all of the doors leading outside.  While I may have needed the exercise, I was not digging it at all.  Thank goodness he grew out of that and we have long since removed those locks (he could reach them now anyway so they'd be useless as tits on a billy goat)!

We have found ourselves in many specialists offices over the years -- neurologists, orthopedic doctors, psychiatrists, ENT doctors, developmental pediatricians, physical therapists, occupational therapists, speech therapist, and behavior specialists.  We participated in studies through the University of North Carolina, and two at the University of Kansas, and he was evaluated at Georgetown University Medical Center in Washington, D.C  It's been a long, daunting and exhausting journey.  We've cried, we've laughed, we've lived and done the best that we could.  At this stage of Josh's life, it's less about figuring it all out and giving him every early intervention possible, and more about discovering more ways to just enjoy life.  We try to stay within the boundaries that Josh can tolerate, but we find ourselves getting more and more adventurous. 

Really, who knew that a tiny little X chromosome could have had such a profound impact? 



  1. Great blog Angie. Helps people like me understand a little more about Fragile X. That must have been some adjustment for Josh and your family when you first moved to Kansas. Reading your blog makes me wonder if I should start a blog about Arthrogryposis! :0

  2. Angie, my dear friend, if the saying of "Every time a bell rings, an angel gets her wings" is true, those bells must be rings for you every minute of every day. I am truly blessed to know you and every more blessed to call you my friend. This is an amazing blog and the perfect start to what we all hope will be an amazing and inspiring journey for all who read it. Love you, girlie :)