sighs, victory, and a movie :)

The results are in and I can now breathe. Neve did not inherit my Fragile X.
Can you hear my ENORMOUS sigh of relief?
I am still in shock as it just doesn't seem possible that Neve can be on track developmentally. Our world is filled with challenges and daily struggles for Nate..how did she come out unscathed?? How is that even possible? ...but I am learning to not question it and just love the heck out of my little wondergirl. I hope the world always comes easy for her and she can always have her eyes wide open to see how that isn't the case for so many other kiddos. I promise you I will raise my daughter to be her brother's biggest advocate and to see how important it is to make a difference for those around her.

There are a lot of changes going on at our house (BIG ONES!) and hopefully we can fill everyone in on the details soon. After the first week in May we should have Nate's schooling issues secured and we won't be in HUSH HUSH mode anymore.

IN THE MEANTIME, we won a huge battle with the school district on Summer programming for Nateman. The school district seems to think that it's acceptable to turn special needs kids away for a 12 week summer break and expect the kids to pick up where they left off in the Fall. Excuse me? I don't think so. Not on my watch. SO, after months of proving my case, they eventually rolled over (even if it was to SHUT ME UP-ha!) and authorized a private autism school placement for Nate (4 days a week) with private speech therapy sessions right at his new school. HOT DOG. :) I am a happy camper. It KILLS me to know the other kiddos in Nate's similar programming in the district won't be getting this. I wish I could LEAD THE WAY- and show them how we could get SO MUCH more for our kids if we just stand together....but that's not the case. Most parents here are hands off..and the ones that aren't are so damn scared of the district pulling their child's services that they don't share ANYTHING. Makes me sick. I know damn well I won my case because Nate's mom screamed the loudest. Unfortunately the end justifies the means. CASE CLOSED. (now I will go rest my voice for my next school battle..)  

In other news, Aaron and I decided to take our kiddos to the movies this weekend. We took Nate and Neve to see the Wiggles movie and it was a lot of fun. Nate couldn't contain his cheers and stimmed happily for most of the movie. Neve sat in her seat like a champ, giving me hope for some alternative Summer fun. I brought some popcorn containers from home and they both munched on dried apples. SUCCESS!

Where's MY Dora sticker?

I was so angry last Tuesday I lost my cool. Sometimes it is all just too much and I just want to scream. This isn't what I signed up for!! BUT, it's what I got.

I had my follow up appointment with Children's Hospital to discuss my Fragile X test results. I met with the geneticist that proceeded to explain to me the various levels of Fragile X, blah, blah, blah...yep, already read up on that- let's move past the basics. He explained that I, being a 51, was in the "gray zone". the zone ranges from 40-60. Nothing below a 58 has ever been shown to mutate in one generation to a full mutation( 200+). Well that is wonderful news...although we are FAR from in the clear. He then explained that Neve had the same 50/50 chance of inheriting either my prefectly fine "X", or the Fragile X. IF she inherited the Fragile X, it would affect her the same way it does me. She is at high risk for Premature Ovarian Failure and all the other SWAG that comes in our Fragile X bag..but it has a HUGE impact on her family planning. Neve's "number" would ALWAYS be a greater number than mine, as it will mutate. Since I am a 51, that could mean she is a 52 (making her a gray zone "carrier" as well) or it could have mutated to between 51 and 200, making her  full fledged carrier and then HER children would have a 50/50 chance of being the full mutation (which includes all levels of disabilities and mental retardation).

Headache inducing, I know. So I just took it all in and said. "ok, so we now test Neve."..and doc pipes in.."Well, that's not our recommendation."    Um, excuse me? Are you insane? Of course we test Neve. It's a blood test that could rule this out for my daughter. "Well, we wouldn't order the testing until she is of reproductive age and can further understand what all of this means.."  Um, I don't think so. I am Neve's guardian and therfore make ALL of her decisions. ...and reproductive age is like, 12, so once again, I am still in charge of ALL of the decisions relating to my minor daughter and her care. Then the genetic counselor pipes in with "Honey, some people just don't want to know what could happen."

OMG, I did everything I could to stop myself from punching her directly in the face (and yes, I would have knocked her out clean ). First of all, stop speaking down to me. Second, are you f'n kidding me? I spent 30+ years of life NOT KNOWING a damn thing about my medical history and I was powerless to obtain such information. I will ALWAYS find out ANY and ALL information. Thank you for educating me on the medical part of this...but deciding whether or not to KNOW is a moral choice that is OURS to make for our daughter. NOT YOURS. How dare you suggest I SIT on this knowledge for 10+ years when we could potentially rule this out entirely tomorrow. It isn't something that she MAY or MAY NOT develop in time..she either HAS IT right now, or she DOESN'T. It's as simple as ordering a blood test.

I told him this meeting was over and I would like to be referred to another geneticist for a second opinion. With a smug look on his face he told me that "..everyone here would say the same thing...but I will ask around and call you."  You pompous ass.

I left and sat in my car, hysterical, and called my sister Lana. I am sure she thinks I am certifiably insane, but that's just life. I have too much on my plate and it overflows....but thank you, Lana, for listening.

I made calls to Neve's pediatrician to obtain a referral for a second opinion at Clevelend Clinic. I also made a call to NATE'S biomed (DAN!) doctor and explained what had happened. He was appalled. He said he would gladly order the testing. My insurance will not pick up the bill, but who the hell cares at this point.

So, last Saturday, Aaron took Miss Neve to the lab for her blood draw. Some tears were shed, and all was made better by a Dora sticker.

Now we are back to waiting. In the meantime, I filed a formal complaint with the head of the genetics department at Children's Hospital.