Temperature Regulation problems

Amelia, cooling off with some tea.

Ellie is overheated

Yesterday we went to a picnic - it was hot outside!   The kids really struggle with regulating their temperature. I am guessing it is CMT related because once I read that CMT-ers are never supposed to get too cold because it exacerbates the condition.  (especially if they're sedated for surgery or some other procedure, CMT-ers should talk to their doctor & inform them that their temperature needs to be  monitored.& regulated. 

I know my kiddos & husband are very particular about being too cold- They don't like to be cold. Andrew & the kids feel like they're cold in the morning, despite the actual temperature being normal/comfortable. Maybe it has something to do with blood flow decrease during sleep-

 Heck, I would rather be cold than too hot!!!! But I don't have CMT, so I wouldn't know what you all struggle with- 

Please post your experiences with temperature!!!  I always feel like Andrew has heat radiating from him- like he's my very own space heater. Oddly enough, his basal temp is not elevated- so maybe that has something to do with nerves misfiring or something like that. 

POST YOUR COMMENTS, PLEASEEEE :D 

I'm trying to gather info on CMT, and I can't do that if no one posts!

Trouble holding a pencil

I was helping Amelia do some drawing activities on Sunday. I was trying to show her how to hold a pencil... It dawned on me... it seems she can't grip the pencil hard enough to put pressure on the paper.

I think I'm going to figure out a way to make holding a pencil easier. Was thinking taking a foam hair curler and sliding the pencil in the middle.. So there is a larger area to grab...

Involuntary Leg kick

.... Since the first time I noticed my husband jerked his leg while sleeping, I thought it was odd.
When our children came along, I recognized that same leg jerk.
From literally hours old, the kids would do the same thing.... A real quick kick-kick...

I have no idea if it is related to CMT.
Any CMTers have something similar?

Breathing issues

I am always looking for little quirks that my husband/kids have. So of course I start googling and reading some studies.... there is something peculiar that happens to some CMTers when they wake up.....
The gist of the article: because the malfunction of the nerves in the lungs and associated muscles, there is a buildup of CO2 in the blood. When you get up and move around, your body tries to purge that carbon dioxide and ya cough like a maniac. My husband and kids do this. It sounds terrible...gagging, coughing, choking, and gasping at the same time. Yeeeck

CMTers: When you wake up, do you cough a ton?

Amelia doesn't want to walk.

I'm sure there are various reasons that kids don't like to walk. They just want to be carried or they're tired.....  This morning, Amelia finally explained why she wants to be carried everywhere.
 She said her leg hurts her. I said show me where---- She pointed to her foot, just below the ankle-

So of course I googled it....Looking up foot anatomy- that is right where peroneus brevis tendon hangs out & a majorly affected tendon in CMT.
 When it comes to the pes cavus deformities & weak ankle--- this is where it begins...
Amelia is very clumsy. She even asks why she falls so much. Maybe it's time for ankle/foot orthotics?? She is turning 4 in October.

The top of the foot, the talus-navicular bone --- this bumped up bony spot---- this is one of the first things that I noticed changing on Amelia & Ellie's feet, along with the increasingly high arches.   Another odd type thing I noticed was their heel seemed to be thickening.... This all started around 24 months old..

What age did your children's or your feet start exhibiting the classic CMT deformity?

Ellie hurt her foot.

Ellie was at her classmate's house jumping on their trampoline. Her friend noticed that Ellie's heel was bleeding.
Ellie couldn't sense her foot was injured.... I wasn't there, but apparently there was quite a lot of blood...

This is one of the same issues my husband was dealing with when he was a mechanic. He would injure a hand or cut some finger wide open, but he didn't realize he was hurt.

So Ellie's neuropathy is a bit further along than I previously thought.

Any CMTers with similar experiences?? How old were you when you first noticed this happening?

Comorbid conditions

 I was cruising around in the car with the family and my mind was on comorbid conditions with Charcot-Marie-tooth disease.... 

My husband has some pretty severe gout. So does my father-in-law (he has CMT, too).

 I suspect that there is a connection to CMT.. I was figuring that the muscle breaks down & floods the blood with proteins and enzymes, like creatine kinase.... (I googled it & in labwork, creatine kinase is elevated often for people afflicted with these muscle wasting diseases)[http://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/8336]

Kidneys that are bombarded with proteins have to work harder to remove the proteins from the blood. So the kidneys start breaking down faster.. After kidneys are damaged, it's harder for them to remove the normal crud.. 

[http://www.ncbi.nlm.nih.gov/pubmed/22531652 ]

So it looks like there is a connection. 

CMTers: Anyone have gout or some level of kidney issues? 

One day at a time

Hello. Welcome to my blog.

I decided to start a blog to gather information on Charcot-Marie-Tooth disease. My husband has CMT and my 2 daughters have CMT. I will be posting my husband & daughters' issues often to try and keep a running journal of their symptoms just in case it may help someone out in the future..
There isn't much research... Especially on pediatric CMT. Many doctors and even neurologists are not familiar with the disease. For that reason I am hoping to get other people afflicted with CMT to collaborate on some basic surveys and general information on their symptoms. 

Feel free to leave a note...

I am interested in knowing when your or your family members' symptoms started, what symptoms you/they have, and if you have had gene testing, what type of CMT do you have.