...easy as 1-2-3!

Go, Nate, Go! This kid works so dang hard...love you T!

Make an on-line slide show at www.OneTrueMedia.com

Area 51

51. That's my number. I am , indeed, a carrier of Fragile X. (insert extremely heavy sigh here..) SO- what the heck does that mean for ME?(TELL HER WHAT SHE HAS WON!!) WELL, a couple things. It puts me in the high risk category for Premature Ovarian Failure (yippee!) including early menopause (double yippee!). ..and then, wait- it gets better! I am at an elevated risk for generalized brain atrophy and cognitive decline (FXTAS). FAN-FLIPPIN -TASTIC!

Ok, all kidding aside, I am scared to death. I am so guilt ridden by the chance that I passed this on to my daughter, it is eating me alive. So here is how it works. I am a carrier- that is now established. The odds are 50/50 if I passed it on to Neve. She could have gotten X-a, my normal X, and everything skipped her...OR she could have gotten X-b, my Fragile X. If she got my normal X we are done. This is no chance of her passing it on recessively or anything like that. BUT, if she got my Fragile X, it isn't going to be good news. Her repeat number will ALWAYS be higher than her mother's number because it will mutate. It is just a matter of how much. My sister's number is below 100 and both of her daughter's numbers mutated to beyond 250.

Now the WHAT-IFS and HOWS start--
WHAT IF Neve does have Fragile X? WHAT IF her disablities start to show? HOW do you tell your daughter the odds are stacked against her and she shouldn't have biological children- the risk is too great? WHAT IF gene therapy hasn't progressed enough by the time Neve starts a family(If we are SO LUCKY as to even have grandchildren)?

Nate's test results stand. He inherited my "normal" X. he is not affected by Fragile X. His Autism is not linked to Fragile X. My biological family is obviously tied by another genetic link to disabilities in addition to Fragile X. The fact that I have numerous nieces and nephews with disabilities and Autism is not a coincidence..in Nate's case, it just isn't Fragile X....

My follow-up appointment is Tuesday then Neve's testing will follow shortly after. I don't know how much more I can put on my plate..haven't I been given enough? someone? anyone? Isn't SOMEONE looking out for me??

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.

I see your true colors shining through.....

Nate- you are amazing, my boy. He has been receptively identifying colors for over a year now (color cards being set out on front of him and he can hand over the correct color to you when asked) and he has also been verbalizing the color names through his picture books--BUT this is really the first time he is generalizing the skills with objects in his environment (our motor room) AND he is not saying "ball", he is saying the color!! Woo-Hoo! Go, Nate, Go!