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??