July 22nd

Couldn't let today come to a close without some sort of blog post. Fragile X Awareness Day is a day when people all over the country & all over the world put extra effort into raising awareness about fragile x syndrome, & fragile x- related conditions. July is also Fragile X Awareness Month so there's been a fair amount of awareness in my social media feeds, & that will continue for another week or so. But today is the official annual Awareness Day on the calendar. 

Fragile X Awareness is important so no one feels alone. I happened to speak with a couple of parents today who recently reached out because they needed help with something. Even being an ear for someone else can have a reciprocal calming effect, too. But if I didn't have the comfort of family, friends, & other parents in the fx community... I don't know how I would even put one foot in front of the other. 

Fragile X Awareness is important because individuals with disabilities either need to advocate for themselves, or need people to advocate on their behalf. If we do not shed light on societal issues that can further hinder their way of life, then not only does this unnecessarily hurt them but it also creates a societal burden. What they need are appropriate protections & opportunities... so they can be contributing members of society. 

For me, the biggest reason why fragile x awareness is so important....
There are many, many genetic disorders. But when it comes to inherited genetic disorders, that puts the importance of awareness in a whole different category.

In my family we traced the gene back to my maternal great grandmother, who had no idea she was a carrier. And certainly never knew it was fragile x syndrome that made one of her three children so different from the other two. And then my grandfather, who by the way was a physician, would have no idea that he was a carrier & would pass this gene to all three of his daughters (also in carrier form). He would have no idea why he had tremors later in life, to the point that he could barely walk (FXTAS, Fragile X-associated Tremor- Ataxia Syndrome). Of course his three daughters (my mom & her sisters) wouldn't know that they were all carriers. His son, who would also become a doctor, would not carry the gene as it can't be passed from father to son.

One of his daughters would have FXPOI (Fragile X-associated Primary Ovarian Insufficiency), & the other two daughters would have children. It's a flip of a coin whether or not a woman passes the gene, & my mom's sister did not pass it to either her son or her daughter. Then my mom had her first child, my sister, & the gene was not passed to Jenna either.

I was the last chance for that gene to make an appearance & no one had any idea that it did. I was born with a full mutation of fragile x syndrome but because females have two x chromosomes, sometimes the other one compensates. Which is exactly what happened in my case. Even though I am not a carrier like most moms, still the full mutation would give me a 50/50 chance of passing on the fragile x gene... which again, we were unaware that I had.

And that brings us to Hayden.... the reason for my commitment for raising awareness. I don't know that the perspective of all this can even scratch the surface of just how grateful we are, but if you participated today (or this month) THANK YOU. For posting on social media, wearing green, or donating to Hayden's annual fundraising page for the NFXF. And a special shout-out to the anonymous donor, thank you so much. 

Fragile X Awareness is only effective because of amazing people like all of you. 

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