Our family is affected by Fragile X Syndrome, and it’s my belief that many in the autism community are also affected by FX but don’t know it.
We have local friends who, after meeting us, decided to test their son with autism for Fragile X. Turns out, like our youngest son, he has the full Fragile X mutation. Because it’s genetic, they will eventually want to test their daughter and this boy’s aunt who could also be carriers.
Do you see why I’m all about spreading awareness for Fragile X Syndrome?!?
Here are some FX basics:
Fragile X syndrome (FXS) is a genetic condition that causes intellectual disability, behavioral and learning challenges and various physical characteristics.
Fragile X is caused by a single gene mutation in the “FMR1 gene,” which stands for fragile X mental retardation gene. (Though the term “mental retardation” is now more acceptably dubbed “intellectual disabilities,” the scientific name of the gene can’t change with the times.)
This gene is located on the X chromosome, and everyone has it. The FMR1 gene makes a very important protein called FMRP (fragile X mental retardation protein). Though this protein is found in all our cells, it is most abundant in the nerve cells, and particularly in a part of the nerve cell that “talks” to other nerve cells called “dendrites.”
When it’s working.
In some of us, the gene starts to mutate, repeating its DNA pattern more than it needs to, slipping and sliding and increasing in repeats through generations until the full mutation occurs and the protein, the brain communicating, necessary filter of a protein shuts off. And then, holy brain chaos, Batman.
I’m a carrier, my slippage, my “repeat number,” still in the zone of “okay.” Maybe that's debatable. (Insert joke about my personality here.) In fact, carriers have symptoms too.
When I was “late” because I was pregnant with my Toby, I assumed I was experiencing a sort of early menopause. Most 30-year-old married woman would have jumped to the more obvious possibility of pregnancy, but I was on the pill, and I knew that FX carriers could have FXPOI, or fragile X-associated primary ovarian insufficiency. Nope. I was pregnant.
Seven years later I’m still not having symptoms of FXPOI, but I do have restless leg syndrome. It affects my sleep. My husband thought I was making it up until we both saw a study presented at a Fragile X conference showing that many FX carriers suffer from this symptom.
There’s more… but it’s nothing compared to our youngest son who has the full mutation.
A little about Toby:
Toby has speech delays, fine motor delays, attention deficit, high anxiety that causes him to vomit when stressed, hyperactivity, and cognitive delays. He has a “disorganized mind.” He does not “attend to tasks.” He does not sit still. He’s six but does not carry on a conversation (although he does talk and talk and talk and..) or write anything other than his name (and even this he doesn’t do very well).
Toby may never drive a car or live on his own. Since we received his diagnosis when Toby was still a baby, we stopped thinking about saving for college. Instead, we think about special needs trusts and his living arrangements in his adult life especially once we are gone.
There are so many ways to be human and Toby’s unfiltered mind is just another one of them.
My journey as Mom to Toby is a wilder ride, but I’m a bit of an adventurer. I've accepted going off the typical path of parenthood.
Fragile not broke. Different not lesser.
Do we still hope for medications that would reduce Toby’s symptoms? Medications that could do the work of his missing protein to the extent that he’d function like his neuro-typical peers? Absolutely. Go, science, go!
That hasn’t happened… yet. We make donations when we can and support studies when we can, but we plan as though the break-through or the cure won’t come.
We plan, but we still hope.
You can read lots more about Fragile X Syndrome and its related disorders at fragilex.org.
You can read more about the personal side of Fragile X whenever I blog about it under that Fragile X tag at this site.