Clouds, May 2010

Clouds, May 2010

Friday, July 31, 2015

3 things

H is just a kid... not to mention he happens have a condition that affects his intellect... a genetic disorder linked to global developmental delays...

But make no mistake my little guy is paying attention! And he knows me better than most people.

At the first fragile x conference that I went to, one of the moms who was presenting was talking about the different facets of fx... how there will be no shortage of challenges, & difficulties along the way that we could not have fathomed... & other hurdles that we will come to expect.

But I distinctly recall her saying that there are also the times when you will wake up in the morning & go to the kitchen to make your coffee, & in the spot where you sit at the table the newspaper will be waiting for you. Someone will have fetched it from the driveway or the front stoop, & placed it there in anticipation of the fact that you will read it with your morning coffee, as per your usual routine.

Never mind the fact that I don't drink coffee-- except iced, occasionally-- or have a paper delivery. Because I can still relate. For example this morning I called to Hayden from my bedroom to please bring me a paper towel (he knew I had just gotten out of the shower). He replied, "What is it? A bug?"
And then he arrived with somewhat of a side smile, a single sheet of paper towel, & a butter knife. Could have done without that last prop but I appreciate the thought in case it had been an insect more substantial than a baby stink bug, & I might have needed to defend myself.


July 2015 was a very successful Awareness Month. I am particularly excited for next year when the Bill will have passed recognizing July 22nd as Fragile X Awareness Day on a state level, here in NJ, consistent with the (already established) nationally recognized date. 

And as the generous amount of awareness in our news feeds starts to lighten, I want to emphasize an important take-away...

I do not expect everyone to remember what fragile x is by definition. Although, if you're curious, my go-to explanation is usually something inclusive of:

"Fragile x syndrome is a genetic condition. It is the most common inherited form of intellectual impairment & the number one known single-gene cause of autism. Approximately 1/3 of people with fx also have autism."

I might go on to explain that "the name fragile x stems from too many breaks, or repeats, on the x chromosome. Fragile x interferes with the body's ability to produce a specific kind of protein needed for normal development."

That is part of what a geneticist at a fragile x clinic once told us. Sometimes I go on to explain a little more of what I learned...

In most people your body will know how much of this protein to produce & when. This specific protein is not needed in most organs of the body. But one vital organ that does need it, is the brain. So this lack of protein causes a depression... not in the more known sense of the word, but rather a depression on the brain because information in an individual with fxs is not processed the same... thus resulting in over-expression or under-expression.

Again, I hardly expect everyone to remember that.

But if anyone ever asks YOU... here is what you can say:

1. Hayden has something called fragile x. It's a genetic condition that he was born with.
2. Fragile x causes learning delays & you may hear speech or see behaviors that are different.
3. Most people with fragile x look the same as other people, & the enjoy the same things as them, too."

Or you can just tell them that he's a nice kid who likes to save his mom from bugs.

Either way thank you for listening, thank you for participating, & thank you for asking really great questions.

We are perpetually grateful for all of the support.
Much love from our family to yours.


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