Hope Catherine - rare movement disorder

coming soon..

Category:

People & Blogs

Tags:

• Dystonie
• Bewegungsstörung
• Behinderung
• Handicap
• rare
• dystonia
• drd
• levodopa
• baby
• children
• kid
• neurological
• movement

[mthomas45]

How is she doing today??? Have you had any progress with her??

[Taragashi]

@mthomas45 Hi, she is doing ok!

We know now, that there are only 10 kids worldwide with this rare disorder.

Her Muscles are one day relaxed and the next day, she is stiff like a wooden board and is crying a lot :-(

We consider in the next months or year a operation - Brain Stimulation

[jstark069]

That is kind of crazy, They said my HC levels were through the roof!!! Also my CK levels-which represent muscle decay. It's like when my body is spasming, My B-type blood cells are like attacking everything. I refused L-dopa because I have 3 small girls. They Diagnosed me with dystonia. I have more tests becuse of those levels. I have an invasive EMG, deep muscle, and bone marrow biopsy on the 12th. If your daughter has a very powerful immune system, we have something similar. ill keep u posted.

[Taragashi]

Indeed that is crazy.

They made a while ago a skin biopsy. I have to ask at the next hospital at the 13th of October for the results.

They told us, that they know only 5 other persons that have that kind of behavior ( worldwide ). There doing for quite a while now research ( DNA ) and we can expect the first results next year in June.

The Homovanillic acid was in April ( 3000.8 nmol/l ). Normal for that age is 660 ( 295-932 nmol/l ).

Her CK was in the end of April around 1773 U/I.

[jstark069]

yeah, those are real high, especially that CK, but they told me that high of CK id directly attributed to the cramping and spasm. Athletes have the same levels when they have workout injury. I've had Internal spasms my whole life. Once they actually diagnosed me with Munchhausens. I was soo mad at that. Years later I got an apology, but it set me back like 8 years. I just heal way faster. I had my shoulder replaced and it only took 8 days to heal. I'm in the medical books for it.

[Taragashi]

The Doctors told us almost the same about the Athletes and there muscles. :)

Wow, thats amazing that you heal so fast, that usually takes weeks or months!

[mthomas45]

@Taragashi I hope surgery goes well!

[Pam4Rob]

What a beautiful little girl you have. She has the sweetest smile.. her smile could brighten up anyones day. Good luck to you and your family, and God Bless you, hope and your whole family.

[acheese9]

What is the open music? With the yellow screen?

(Hope all goes well for Hope, btw.)

[DystoniaHeart]

I was diagnosed with a rare disorder Dystonia I had a brain surgery, called DBS, put wires in my brain, passmaker divise in my chest I see my specalist in long beach it's a God send for me, my family, I was on the news in Bakersfield, CA. channle 29 , I am helping alot of people just by sharing my story Catherine is beutiful you are luky to have her, I tell my mom she's luky to see her baby girl do things that was not poseble now I am nolonger her baby girl I am a waman doing the imposibale.

[jstark069]

It literally "tricks" the the muscles to calm down. With this, It's mostly secondary symtoms due to stress. So when you put that light pressure and sing, it just all of the sudden stops. Same with the legs, hold her facing away from you, with both hands on her hips kind of grabbing around her upper thigh around to the back. then when the joint are calm, you can do some fun stretching, which is most important. kind of like when you put ur hand on top of a fussy babies head, they just get calm.

[jstark069]

also, I did a special kind of physical therapy called "active release" It's not very common as not alot of PT's are trained in it but it helps me big time with the spasms. You can google it. also, Have you tried physio-presses. basically, it's calmly putting pressure on the spasming joint. I've seen it work on kids. it works especially well on the neck. When she's fussy and shaking her head. put both hands, light pressure on base of neck/shoulder and speak calmly to her, you could be amazed.

[jstark069]

I know. A runnin joke now at my docs office is last week when i was there, they were talking all doc speak about rapid healing, and this geeky assistant in the room just blurts out "He's just like mother f-ing wolverine!!!" and made this funny slash motion. She said that wasn't funny and made him leave the room. I told her that was the funniest thing i have ever seen in my life. Still makes me laugh cuz it was just out of nowhere.