The X Factor

Fragile X.

This is a word that came into our lives a little over 2 years ago....before that, I had never heard of it. Backtrack to 2007/20008- Nate's formal Autism diagnosis came through Children's Hospital Autism Center here in Columbus and it included a full set of neorological tests as well as genetic testing.. and the genetic testing that was done was to "rule out" Fragile X.

Fragile X syndrome is the most common known cause of mental retardation and developmental disabilities. A change or mutation in a gene on the X chromosome causes the fragile X. It is inherited and can mutate through subsequent generations. Aaron does not have a history of developmental disorders or Fragile X, and I am adopted and had ZERO medical history (although I, myself, do not have a devlopmental disorder of any kind).

So what the hell does this have to do with Nate? Nate has Autism- that is already established. Fragile X is the most common known genetic link to Autism. For 2-6% of kids with Autism, Fragile X is the contributing factor. 1/3 of kids with Fragile X have Autism. So basically that means that this could be a CAUSE for Nate's Autism..well, amen if we can find a cause becasue there isn't much hope in the "Why the hell did this happen to Nate?" department.

Nate's neurologist came back to us saying his test results were "normal" and Fragile X was not a factor. So that was that, case closed.

...but then something came to light. After 30+ years, I have come in contact with my biological family (which is a whole other CRAZY BUT WONDERFUL story for another day) and in the blink of an eye, Fragile X came back into our lives. My mother is a "carrier", my sisters are "carriers" and my nieces and nephews have disabilities ranging from small delays to severe Autism. Lovely. NOT the kind of news you exactly hope to hear. I AM, though,  forever thankful though for my amazing sister, Lana, who has brought me into her world of knowledge and is helping me navigate through all of this. I would NEVER have reconsidered ANY of this if I had not found her. Children's had "ruled it out" and I was never even tested, only Nate.

So then we catch up to today. Aaron and I are worried. We are done with OUR family planning as we are not having any more children biologically- that ship has sailed...but what about Neve??!? Neve currently shows NO signs of developmental delays, actually quite the opposite, but if she chooses to have children someday, this is a HUGE factor.

Our plan today was to have all four of us tested. We quickly learned that this wasn't an immediate option as our insurance wasn't covering it. Since I do not have any current disabilities or suspected mental illness(unless you ask Aaron or my friends) the order is not covered by our insurance, even with an overwhelming family history. Really?!? Nate HAS been tested in the past so they are now researching what his exact "number" is, so I will at least know that for sure. Then we went ahead and had me tested today. There is a 50/50 chance that I inherited the Fragile X from my mother. I also could have inherited her normal X. SO, the waiting begins.

This is how the results will come back.

Fragile X is defined by a "repeat" in DNA sequence. The number you get in a test will show your "repeat number", or how many times the sequence is repeating.

If my number is between 5 and 50 times (the average at 30) then I am "normal" with respect to Fragile X.

If my number is between 50 and 200, I would be considered a "Premutation carrier". (Premuation carriers are typically not affected themselves with a disability)

If my number is above 200 I woudl be considered a "Full mutaion". (This will not be the case for ME as this woudl mean I have Fragile X syndrome and would have all the impairments that go along with the syndrome.) (and no, Aaron, sarcastic crazy beyotch does NOT count ).

So, there ya go. Enough on this topic for the day. Now the waiting begins. ...at least we have another snow storm blowing in tomorrow to keep me busy. :)