Wednesday, January 20, 2010

Pediatric Neurology, NEW and IMPROVED!

Wow, what a difference. This guy was great. And we had high expectations! He gave us so much information that I dont think I can clearly explain it here but at least he gave us information! At our last visit with Dr. Victim, she basically just shrugged her shoulders as if to say: "she has Rett syndrome, sorry, deal with it" and gave us no direction!
Today, we feel armed with info and with somewhat of a plan. Here is what we are going to do:
1. EKG
2. Xray of spine to get a baseline if she should develop any spinal curvature
3. overnight video eeg (Fun!)
4. Consider giving Avery a stimulant to calm her down-she NEVER stops moving, her attention span is non-existent and she is impulsive. Because you can see effects of stimulants in about a week we may think about trying it. I am thinking along the lines of learning and maybe it will help her to focus and learn more at school?
5. Clonidine? for sleeping. The Dr. did say he thought what we described sounded like a typical sleep distrubance based on sleep cycles. And, it doesnt really bother Clonidine sounds so scary for some reason? This is last on our list.
6. Folate-Apparently there have been clinically diagnosed girls that really had a folate deficiency and when given this supplement, they improved. NOT in girls with a MECP2 mutation or deletion. But, he said since Avery's is yet to be reported it couldnt hurt. (When I got home though I found that the research has shown it doesnt really work and may increase seizures so I have an email into Dr. New and Improved. will update on that when I hear back!)
He recommended that we definitely go to the Rett syndrome conference! Great news! Now to figure out how to pay for it all! yikes. But its in Colorado and would be super informative. So we will figure it out. He also recommended going to the Blue Bird Rett clinic in Texas! Maybe....
Anyway-he was great.
Ill keep you posted on what happens next!


Wallerstein said...

I am so happy you had a great appointment with the neurologist. Sounds like he is listening to you & giving you ideas and things to think about. So glad to hear you guys are happy with him.

Carrie and Avery said...

Both my kids take clonidine. Cole(my high functioning autistic son) has been on it since 2.5(left up to him he would NEVER sleep!!) I guess it goes along with autism. Avery has always been a great sleeper and still is except going to sleep. She started it about a month ago and it is going really well.

As a side-note, clonidine has a short half life so it is metabolized quickly. If avery is going to sleep ok but waking up, this isnt the drug for her. We had to add Seroquel to cole's regimen a year after starting the clonidine. Cole is also ADHD so he uses the daytrana patch. It works really well and takes the fight out of giving medicine.

if you have any questions, send me a message

The MacDonald Family said...

Sounds like you got a good one! We went through that too, 4 neuro's later we actually got one that knew something. So happy for you! We have Annie on Buspar for anxiety and it's worked great for her, she's able to concentrate and learn now. Annie has terrible sleep issues, we tried trazadone but she was really weird the next day so now we just use benedryl (doc ordered). We were on folinic acid (the absorbable form of folic acid that was tested on our rett girls) we saw no difference in Annie and when the study came out that it can cause seizures we pulled her off. Good luck with everything - knowledge is power!!

DJLG said...

That neuro sounds fantastic! Really proactive and caring. Keep us updated with the testing. Thinking of you, xooxoox Avruch

Ann Marie said...

So glad you met with a great doctor. He seems to be very proactive. I hope you all can make it in May. We are planning on going, also.