Monday, April 7, 2008


Well we went to the neurologist for what we thought was a follow up to her EEG. Instead we got the news we weren't full prepared to hear! Avery does in fact have Rett Syndrome. The second genetic test revealed that she has "exon 3 and 4 deletion". For the layman, this means that "chapter" 3 and 4 have been deleted from her MECP2 "book".

Her EEG was abnormal. She is having what Dr. Suhrbier called markers for seizure activity. She isn't have seizures at this time but it is inevitable.

On a happier note, Cole is doing AWESOME! Dr. Suhrbier is amazed every time he sees him. :)


Brooklyn said...

I am so glad you called tonight. I hope I was helpful. Charlie and I were talking and he said "man, I feel bad for them - they are going through the BAD time right now" I promise, the glow in her eyes will be back - you will be playing house before you know it!
If you ever need ANYTHING let me know. I obviously hate that Avery has Rett Syndrome - no little girl deserves it. I am glad you have a diagnosis, in an odd way it brings some peace. Hang in there girl.....we will get through this together!

Grammy said...

Hi...I am Brooklyn's grammy. I have been thinking about your family and what you are going through now. This is definitely the most difficult time, when the regression hits, but it does get better. I'm glad you and Kelly have become blog buddies - it helps to have someone to talk to who knows what you are going through. If I can ever help in any way...just let me know. Our girls are AMAZING! Everyday I see something different that Brooklyn knows and can do that we had no idea she could do. I delight in her precious smiles and giggles. Wish we could get the families together! Hang in there...better days are ahead!

Suzy aka Grammy

Samantha said...

My name is Samantha and my daughter Brooke also has Rett Syndrome. I found you through Brooklyn's blog. My daughter just turned 6 and remembering back to when we first got her diagnosis is almost getting fuzzy for me already. But remembering that it was a deep aching, pain will probably never go away. But most importantly knowing that it is nothing like I feel now. There are always going to be good days and bad days but it is going to get better. Your family will be in our thoughts. If there is anything you need just send an email.

Anonymous said...

I'm sorry. Just wanted you to know I'm thinking of you.