Clouds, May 2010

Clouds, May 2010

Thursday, July 25, 2013

the 22nd... continued.

In honor of Fragile X Awareness Month, I want to provide a better perspective of how this fragile x gene can literally be hidden for generations. And how we came to learn about it.
This is the continuation of my post about the 22nd. As mentioned in Part One, here is the letter which until now has only existed in my thoughts:


Dear Poppy,

I miss you all the time. I miss all of my grandparents. I do find some comfort knowing you & Grandma are together now just as I did when Grandma Phyllis passed-- knowing she was reunited with Poppy Shoore-- but sometimes everything feels too fresh.

As I believe you know, Hayden was born about five months after you passed away. You might not know this part, but you two share a very special bond.

If you think back to when your tremors began you probably recall that things like writing or holding a utensil became very difficult for you. Even though we already had an answer that it was definitely not Parkinson's, the doctors weren't sure what was causing the tremors. And for you, a retired physician yourself, this was most bothersome.

Eventually the diagnosis was excess fluid on the brain, a part of the natural aging process & not too uncommon. And as the years went on & the rest of your body was increasingly affected until your ability to walk had nearly diminished, none of us had any idea whatsoever just how important of a clue this really was.

It was evident early on in Hayden's life that he was delayed, but it seemed nothing more than that. He was a big baby... I remember telling Grandma when the Pediatrician said his height (length) was off-the-charts. She replied, "Well then tell them to get a new chart!"

I could summarize a timeline of Hayden's delayed milestones for you, but those specifics are not what I want to focus on. In November of 2006 he tested positive for Fragile X. Fragile X Syndrome is an inherited form of intellectual disability, & a condition that causes various learning & behavioral challenges.

After we learned about the genetic pattern of fragile x we traced it back, & this may have been what your brother was born with. (I did not even realize that you & Aunt Bevy had a brother.) You were a carrier of the gene & unknowingly passed it on in a carrier form, to all three of your daughters including my mom of course. That means for me, Jenna, Ben, & Jessie there was a 50/50 chance of the gene being passed.

You did not pass it on to Uncle Irl because the defect is on the x chromosome (hence the name). Therefore, there was no chance of this being passed to Jackie, Max, or Justin.

When I had a blood test following Hayden's results, we actually learned that I am not just a carrier. When the breaks (or repeats) on the x chromosome exceed a certain range, that is an indication of the full mutation of fragile x.

Sometimes in females, since we have two x chromosomes, our healthy x chromosome will compensate. That is what happened with me.

In the first part of this blog post I joke how it would hardly take the birth of a royal baby for me to remember the 22nd. Not just because July 22nd is National Fragile X Awareness Day-- but also because the #22 has specific meaning to me.

There is one more fact about this number which I hadn't mentioned yet.

Apparently via blood tests we can also determine the percentage at which a healthier x chromosome is compensating. You can guess on the number they came back with... keep in mind, it's the dominant percentage.

Yes, my other x is compensating at 78%. So the remaining 22% is a different story (I'm typing with a smirk).

Poppy, your tremors were a result of something called FXTAS
(pronounced 'fax-tas'). This is an acronym for Fragile X-Associated Tremor/Ataxia Syndrome. This is something that male carriers of fragile x develop later in life.

Throughout these past 6 1/2 years or so, since Hayden was diagnosed, I have gone back & forth in my mind countless times. While I wish so, so much that Dan & I starting a family could have given you some sort of closure before you passed-- (I mean for yourself & why you had tremors--) there is a part of me that fears I may have simultaneously broken your heart just a little bit. I think about just how much you wanted a great grandchild* & I would always be worrying if you truly remained at peace.

I want to tell you that even on our absolute toughest of days, you need not worry... & I mean that. First of all, Hayden is otherwise very physically healthy. He is thriving & he is strong... but most importantly... you must know that he is genuinely happy. He has always worn a smile well.

All he knows is that he has a family who loves him, provides for him, & supports him. He has Grandparents who dote over him, Aunts & Uncles who cherish him, cousins who adore his company (& that number is growing!)... & he is generally quite content. And I should mention his teachers & other people who work with him truly think the world of him, & they have about as much motivation as we do to see him succeed in life. I honestly believe that.

He is growing up in a borderline-rural town where more people probably know him, than us. This is home to him & it's evident he finds comfort in that.

We love you very much & we too are comforted, knowing Hayden has so many angels watching over him.


I wanted to share this to give Fragile X Awareness Month the attention it deserves.

Thank you for reading :)


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