Clouds, May 2010

Clouds, May 2010

Tuesday, February 23, 2021

Virtual Advocacy

Wednesday, February 24th is the 2021 National Fragile X Foundation annual Advocacy Day! Needless to say, this is the first time in its history that the Event is virtual. 

For anyone on New Jersey's virtual schedule who visits this page either ahead of, or after, our meeting thank you for making the stop! 

Per the packet which was emailed to you, we are speaking about
  • supporting DOD, NIH, and CDC research funding
  • expanding access to telehealth
  • supporting the soon-to-be-introduced STAT Act, for enacting FDA policy reforms, to help smaller populations access appropriate therapies 
  • and asking members of the House to join the Fragile X Caucus 

When we refer to fragile x this includes a group of conditions related to defects on the X chromosome. For example, my late grandfather had FXTAS which causes Parkinson's-like symptoms but none of us (including him) knew why he had tremors. He was a physician but he had long since retired by the time my husband and I were expecting Hayden, and he passed away about five months before Hayden was born. At that time the awareness of fragile x was not nearly what it is now. 

Unbeknownst to anyone in my family including my mother, we learned she is a carrier of fragile x and she passed the gene to me, and that meant our son had a 50/50 chance of being born with fragile x syndrome (fxs). We did not know why Hayden exhibited global developmental delays, but he was eventually diagnosed with fxs when he was 17 months. Fragile x syndrome is not only a genetic condition but it is also the most common inherited form of intellectual impairment. And so far, it is the only known single gene of cause of autism when there is a dual diagnosis. (While a very small percentage of individuals with autism also have fragile x, at least a third of individuals with fragile x also have autism.) Fragile x syndrome not only causes learning challenges but also behavioral issues, sensory processing disorder, low muscle tone, and difficulty with fine and gross motor functions. 

Our guy loves cars and trucks, and working with tools, and playing outside. He has a recumbent bicycle with a hitch and trailer, and he loves riding up and down the street or around the yard making trips to and from his shed. While we have experienced some very significant behavioral challenges, most often Hayden is just a loving person. He has a whole lot to offer in a world that has a lot to learn from him.

While I have been a little off course in recent years as far as keeping my blog updated (and I currently have three unpublished posts that are still drafts in progress), I will come back from time to time. It is my goal to share the good, the bad, and also some things in between because I'd rather the world hear it from me first. 

I hope you'll stop back and visit again soon! 


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