Rett Syndrome-first dose of glycopyrolate and valproic acid-small seizure

[dpark76]

What a beautiful girl. Our daughter was just diagnosed and we haven't stopped crying since.

[patatocchias]

Now how's the baby?

[malakoz]

my daughter has rett syndrome and i feel blessed to have her, my daughter is just like yours, she is moving all the time and then she starts sweating. she has medication that is sopposed to relax the muscles but she goes to sleep right after her meds and she takes them 3 times a day so i feel like i have no time to do phisio with her or do anything she is always sleeping do you have this problem?

[N330AA]

What a sad condition :(

[janineaaaaaaa]

Is she always moving and twitching? Must be exhausting.

[6739913]

July20th....Is that some kind of sick joke? If you have a 16 year old daughter who needs constant care, then you should know how to change her diaper. And NO I will not post a video of my daughter being changed.

[july20thclanchat]

shes is really pretty, does she wear diapers? if so can you give me advice on how to change her diaper i try on my daughter but she always wriggles out of them, or could you post a video to show me. i have a daughter 16 years old, she needs constant care such as feeding,bathing,clothing, and changing.

[aawood00]

God bless her. She is beautiful.

[djnlb2]

Aww she is a very pretty little girl! In fact you should be happy to know that was the first thing i noticed!

[djnlb2]

Aww she is a very pretty little girl! In fact you should be happy to know that was the first thing i noticed!

[26sajdah]

I HAVE A 2 YEAR OLD WITH RETTES AND I JUST HEARD FROM HER DR THAT THEY HAVE BEEN DOING REASERCH ON ANIMALS TO REVERSE THE EFFECTS AND IT HAS BEEN PRETTY SUCCESSFUL SO HOPEFULLY SOON WE WILL BE ABLE TO HAVE A TREATMENT FOR OUR ANGELS!!!

[6739913]

Brianna constantly "claps" her hands...it is an involunary movement, so sometimes we put the arm braces on to give her arms a rest or to work with her during physio therapy sessions.

[PinecrestRailroad]

What are the splints for please?

[janineaaaaaaa]

@PinecrestRailroad The other videos show her constantly putting her hands near her mouth and her elbows are always folded. The splints probably keep her from doing this. May also have atrophied her elbows if they were always in that position.

[PinecrestRailroad]

@janineaaaaaaa Hand splints, especially for an individual as consumed by her movements as Brianna presents, are generally used to prevent an individual from doing things. Individuals with Rhetts's, for example, may spend great amounts of time wringing hands, at the mouth, drooling, macerating fingertips and hands. Therapists and parents (never a doctor) have tried to convince me that this is humane. In the classroom, when students would arrive with such splints we would remove them.

[janineaaaaaaa]

@PinecrestRailroad Why?

[PinecrestRailroad]

@janineaaaaaaa The short answer is, after 20 minutes onsite we would remove such splints in order to check for pressure marks; I would choose to not be qualified to reapply such a splint and am not required to do so as a classroom teacher even if specially credentialed. The long answer is really a matter of philosophy, training, and experience facilitating learning for individuals who experience some of the greatest disabilities. Check my webpage.

[kimklingler007]

We have a daughter with 294x mutation also...she is 5...would love to chat about your daughter- I've never found anyone with 294x mutation!

[Lavinco]

So sorry she has to experience this. We have a daughter with r294x type Rett Syndrome. she is 3.5 today. I hope the cure passes clinicals soon.

[6739913]

@Lavinco What cure?!?!? I didnt realize that they have had anything go to the clinical phase. Where are you located?

[Lavinco]

@6739913 The cure is in the recruiting phase and Run out of Boston. It is set to begin in October. Participants will be either given the real cure or placebo. Parents will never know which one they get until after the study is complete.

The cure is called IGF-1 and some bodybuilders who use steroids, have been using this stuff for about 10 years already. It has been proven effective for other neoro disorders as well like PWS.

[26sajdah]

I HAVE A 2 YEAR OLD WITH RETTES AND I JUST HEARD FROM HER DR THAT THEY HAVE BEEN DOING REASERCH ON ANIMALS TO REVERSE THE EFFECTS AND IT HAS BEEN PRETTY SUCCESSFUL SO HOPEFULLY SOON WE WILL BE ABLE TO HAVE A TREATMENT FOR OUR ANGELS!!!

[rustypleco]

She is beautiful like my girl. We are lucky, despite the amazing struggles we endure, to have these girls in our lives, aren't we.