Fragile X Syndrome is a genetic disorder that we never even heard of until our son was born. FXS is the most common inherited form of intellectual impairment & the number one known single gene cause of autism. I'm here to raise awareneXs and blog our story.
I am not
going to sit here & tell you to rest
Something tells me wherever you are you're not tired. In peace, yes... but
resting, probably not. Maybe other loved ones rest because that's what we say,
when we lay someone to rest.
But you, hopefully you're shopping in peace. After all, we know the
best-dressed woman in the world has her appearance to keep up. Or maybe you're
watching one of your favorite shows, while peacefully crocheting an afghan
If it's really a great day, then you are most certainly sitting in peace while
china painting. Perhaps you're working on a small dish with your signature
violets, & you've just finished the second layer of gold trim around the
edge, so it's time to put it back in the kiln.
But if it is the most perfect of days, then hopefully you're traveling in
peace. You & Poppy are on your way to an extraordinary place.
I know wherever you are, you’re with your family & you
are reunited with Poppy. I know you are content. You go on ahead & put on a
beautiful skirt suit, or perhaps an ensemble that Great Grandma Jessie made
(this is your after-party, you decide)-- & then slip on a pair of your
little heels. Go & enjoy...
Perhaps you’ve been resting only to build up energy for the past week... to give your body strength before you went on to a better place. You have 92½ years of a beautiful life, to pick & choose moments to relive.
When Poppy passed away Uncle Irl looked up from his eulogy & said not to be
sorry for our loss... & likewise, at this time, everyone should acknowledge
with us the blessing that we've enjoyed all of these years with our beloved
Grandma... or Mom... etc... whomever she is to each of us. I use present-tense
because she will continue to be in most of our thoughts & in all of our
Grandma, I am beyond grateful for everything I have shared with you (&
Poppy)... my whole life. And especially being the only grandchild who was
blessed to have both of you present on my wedding day… Dan & I both feel so
lucky. Especially me… I feel blessed almost to the point of guilt.
Then about two years after that, I was so very
thankful that Poppy knew there was an H on the way... he didn't know if it was
a boy "H" or a girl "H", but he knew there was going to be an HZC... who would make
you an official GGG. None of us knew about the X of course but that's the
gene-- or should I say spot-- that marks a hidden treasure. Hayden is nothing
short of that. Some days that map is particularly difficult to follow & I
might emphasize the hidden part… but he is the most surprising & rewarding
of treasures, nonetheless.
You're always so very proud of him & his progress & I love how often
you would tell me that you shared stories with a friend, when he says or does
something funny. And you would always say I should write it down so I promise
for as long as I can, that I will.
It's been a couple of years since I wrote you a poem & I know how much you
love them. (I will always remember that it was at the house in Maywood after the
fire, when a poem was recovered which I wrote when I was about 8... the oldest remaining one, as far as I know.)
Well, here's something more current for one of my
For all of us you represent such adoration, strength, & grace.
I just think of your talent, valor, &
even I walk taller.
You dress to the nines but your most
stunning accessory, your face.
Lavender shades appeal to both our hearts;
you're just like our color. Grandma, as long as there exists
purple in this world,
I will continue to love you & to respect you.
Your memory is like a finishing touch, the stitch called purl.
Remain in peace, but enjoy rest only when you want to.
So, it's Tuesday & I'm already having one of those weeks.
Two mornings in a row & my child has had colossal meltdowns seemingly out of nowhere. That's the only part that is consistent...
Usually when things are particularly bad, it's the least-expected. When I think back to the times when I have seen Hayden's behavior at its absolute worst, those are the times when the antecedents are the toughest to identify.
I will replay the minutes & hours in my mind before the incident happened & try to figure out triggers. Usually I am unable to pinpoint the cause.
But because my son has fragile x & therefore his body is not producing a certain protein that it needs for normal development & functioning... & one of the vital organs in his body which desperately needs this protein, is his brain... then maybe I should quit being so damn surprised.
-- Most people with fragile x will end up with a treatment regimen of medications to help with symptoms of fragile x, but nothing that is specifically indicated for it. Just to name a few examples, these symptoms can include attention deficit, hyperactivity, anxiety, depression, social anxiety & other related challenges.
There are various clinical trials in progress but when seeking FDA approval, because only one symptom can really be targeted at a time, not everyone who can benefit from the medicine will necessarily qualify for the study. In addition, each trial is targeted for certain age groups, & treatment centers are only in specific locations throughout the country.
Hayden is not presently enrolled in any of the current clinical studies. The one that we were hoping to get him enrolled in, he ended up not qualifying for because the target symptom of the trial is not something that he exhibits.
That trial was also the one currently closest to achieving FDA approval. If you have been following my posts, then you already know in recent weeks the study abruptly came to a halt-- not due to safety issues-- but because of funding.
In addition to signing this petition (the link will open in a separate window), you can also help by sharing the fx community stories in whatever capacity you can... with friends, family, on social media, or in any other media format... the more attention, the better. You can start by sharing this link ... it's a newly-created site, solely dedicated to the families of the children who have greatly benefited from the STX209 Clinical Trial.
And here is another phenomenal article-- just published-- & you can learn all about Parker & Allison Roos from Illinois. Their story is shared through the perspective of their tireless mom, Holly, & even though it's the story of one family... it's actually the same story of many, many families throughout the country.
The article includes a heartwarming (yet equally heartbreaking) video, as well as photos & other insightful information.
Please share any or all of these links. Not just for the kids who have been on the trial all this time & have had such incredible improvements, but for all of the other kids, too-- kids like Hayden who were patiently waiting their turn, pending the FDA approval. This affects all of us... even people whose kids are not yet diagnosed.