Yesterdays EEG visit

Yesterday was Chloe's second EEG. I wanted her to have either a 24 or 48 hour EEG done but the machines for that were out and so we got the one hour one done. It's not fun, for her or me. And it required two adults to get her there. One to drive and one to keep her awake. She had to be sleep deprived which means I had to be sleep deprived as well. Not fun. So they got us in and registered without any wait, then came the really fun part. They measure her head and stick like thirty leads on her head then wrap it with gauze and they stuck two to her ears and one on her heart. All the while she is telling us in no uncertain terms that she does not like the leads on her head, she's tired and she wants to go to her bed in her house. For a little girl who doesn't talk you would be amazed at how she communicated that to us LoL. Then after all that the lady just expected her to just drop right off to sleep. Ha! With all the crying she had caught her second wind. Once she calmed down and stopped protesting she decided it was play time. Great! So after over thirty mins of practically sitting in her to keep her still, ok not really but you know. She finally drifted off to dream land. They let her sleep for about 15 to 30 mins and they wanted to wake her up and shine strobe lights in her face. Not a happy camper. After all that she fell asleep in her aunts arms before we even reached the elevators and did not wakenup for four hours. Poor thing!
Ok so you want to know after all that, how did it go? I have no idea. I never did hear anything back from anyone all today. Tomorrow I start the phone calls and I'll update when I find out more. The only thought was man, I hope she gets used to this. If we get her in to the clinical trial in Boston, she will have an EEG done every 4 weeks for 40 weeks. But hey, praise God we have this technology and get to see what is going on in her little cute head. Until next time...

This is the first post I wrote after we found out....

A mother knows. A mother knows there is something wrong when she looks in the eyes of her newborn. She knows when her precious baby doesn't hit milestones or reach for her in the the "clingy" stage. A mother knows when her gut and instincts all scream "SOMETHING ISN"T RIGHT" And a mother knows when she would give all that she has to be wrong.




Today I got the call that ended the searching phase we have been in since roughly November 2010. I thought I had it all figured out. I thought that I had solved the puzzle. I didn't want to be right. I wasn't. I suppose I should have felt relieved. Some people start the searching phase and end up being in it for years. I didn't.

Rett Syndrome. two words that changed our lives forever. I had heard of it, once or twice I have scanned the symptoms only to quickly dismiss it. The outcome isn't good. But the blood test came back and it's Rett Syndrome. I honestly don't know much about it. I know more about it now than I did 24 hours ago though. Here's what I know, but seriously if you want to know more then I strongly urge you to go to http://www.nichd.nih.gov/ and look up Rett Syndrome.

It's rare: only 1 in every 10,000 to 25,000 live births result in a Rett Syndrome birth
It only affects girls with I think 2 exceptions ever. the reason is long and technical and has to do with X and Y chromosomes.
Unlike Angelman Syndrome which affects the chromosomes, Rett affects a single gene.
Rett Syndrome isn't degenerative but it is regressive. (I'm still fuzzy on the difference)
Rett Syndrome will eventually take my baby's ability to walk and crawl away.
She may learn to talk eventually but even that will be taken from her.
There are 4 phases of progression with Rett Syndrome
Early Onset Phase- she will stop developing
Rapid Destructive Phase-she will lose or regress learned skills quickly,* this phase is the hardest to swallow. It breaks my heart over and over* Purposeful hand movement and speech are the first to be lost......
Plateau Phase- regression slows. Seizures and movement problems are common in this stage. and most girls spend the majority of their time here
Late Motor Deterioration Phase- girls with either become stiff or lose muscle tome and some become immobile.


The reality of this is washing over me in waves of grief. Our life will never be the same. We are thinking about the future and trying not to be scared but we know that we need a house that is more open and handicap accessible. We will need a van that is modified to help us. And we need a communication device so we can communicate with Chloe. the list could go on and on. For now I will just have to take sleep. I will write again sooner than last time.

The journey of a thousand steps.....

I (Jessica) would just like to say thank you for stopping by and reading about our journey. The road we are on is the road less traveled. It's hard and long, but in the end, our little girl with no voice will speak to your heart and teach you things you never knew about yourself and the world around you.