Head of the Class

Well, it's better than last year..haha. Nateman looked a bit stoned last year..so I believe we have upgraded to "uncomfortable". :)

Hmmm...what else is going on here...Nate is due for his yearly allergy testing so we will be scheduling that soon. I wonder what lovely additions we will add to our list this year?? My allergies are going nuts lately with all the trees blooming this time of year- but Nate's are fine, so I think he is ok in the "tree allergy" department it seems.

Nate has about 6 weeks left of school and then it's on to summer school! We met with his summer school this week to get things in order...and everything looks good!

..and here is a picture of Nate and Neve today on Earth Day! Go Green!

Reading Rainbow

Could we possibly be any prouder of our stinkin cute little dude? I don't think so. Oh, and feel free to cheer for him. :)

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.

...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.