[Busymommie]

I haven't posted here in ages, but I am in a desperate search for information.

Riley was dx'd with CMT about 3 years ago. She also has pervasive developmental delay, and an intractible seizure disorder.

She reecently (christmas day) was hospitalized with aspiration pneurmonia. AT the hospital they said the aspiration occured during a seizure, but she has had thousands of seizures in her lifetime so I have a hard time believing thats the cause.

She has severe sleep apnea, the neuro says as a result of CMT.

Is it possible that the aspiration is because of the CMT?

She has always had eating issue, and in september of this year got a g-tube, but that was mainly for suppliments and hydration since she has had about 10 hospitilazations for dehydration and seizures in the last 6 months.

I am worried that her CMT is progressing.

(yes, we have an appointment with her neurologist, and gastrointerologist on Monday) I am just looking for info...

[Curious]

(((((Denea & Riley)))))

I'm going to copy your post on the General forum too. Link it to here.

[Busymommie]

thank you I am desperate for direction. I can accept if it is a seizure issue, quite frankly I would rather it be a seizure issue.. just seems strange that it has just happened now though.

[dahlek]

But know that you and your daughter will be on my mind, in my heart and in my prayers. I wish I could be of more use. But, I simply do not know how I could be of use.
I wish extra strength for YOU as it sounds as if you have your plate very full! Again, I wish you were nearby so's I could help you! So, I'll just keep you on my mind etc. until...we know how well you all fare, OK? Silly but well meant? Some hugs! 's - j

[Kitt]

Originally Posted by Busymommie

Riley was dx'd with CMT about 3 years ago. She also has pervasive developmental delay, and an intractible seizure disorder.

Hi, You say that Riley was diagnosed with CMT 3 years ago. How was she diagnosed Was it thru DNA blood testing or an EMG/NCV. If so, do you know what type of CMT she has Perhaps you know that there are around 20 types that they now have DNA blood testing for. And there are about 50 types identified so far and no end in sight. http://www.athenadiagnostics.com has a plan, I believe, to help with the cost.

Is she seeing a neurologist who knows CMT That would be one of the priorities as one who knows CMT could answer a lot of your questions. Or they should be able to.

As far as sleep apnea, it occurs in the general population as well. So I'm not sure that you could say it is tied with CMT. However, it could be.

What symptoms of CMT does Riley have Does anyone in the family show any symptoms of CMT or have been diagnosed with it

Many questions here but I hope you will post again and perhaps I can give you more information.

[Busymommie]

She was diagnosed based on a nerve conduction, family history and clinicaly.

I am not certain which type she has- I *think* I remember her neurologist talking about CMT1A- but I can't say that for certain. She has not had the genetic testing done, none of us have.

Yes, other family memebers have it. My grandpa, dad, uncle, aunt, myself and of course Riley. My 14 year old also looks like she will eventually be dx'd with it, as does my 16 year old. Of course Ri is more severely affected by it. I didn't have any worsening until the last year or two. My hands have always been weak, my writing stinks, I get cramps really bad in my hands when writing. I have loss of sensation in both my hands and feet. I can grab a hot pan and it takes a few seconds for the pain to hit.

When she was dx'd with sleep apnea her neuro was very emphatic it was the CMT.

As for her symptoms- she has foot drop, atropy, weakness in her hands, tremors and the link that led to her dx was "itching" feet. She has little sensation in her feet at all. Her AFO's have rubbed blisters and caused sores on her feet//ankles and she hasn't felt them. She fatigues when walking fairly quickly. she also has generalized muscular weakness. - just an example- We had a light at the end of the steps that the bulbs kept going missing from, finally I asked- Ri sheepishly says "it wasn't hot" she comes donstairs with about 5 bulbs (I thought my sister was taking them) stuck into the holes of her helmet- she unscrewed the lights while it was on... we have always told her not to touch them, they are hot. She isn't one for following the rules, and the fact that we had "lied" to her about them being hot was enough to motivate her to keep doing it. Point is, she didn't feel that they were hot.

We actually had appointments with both her neuro and gastro today. Both said she needs to have a modified barium swallow done to see. Her neuro said that if the swallow study is normal then we have to assume it was because of a seiuzure.

[Kitt]

Thank you for the reply. It sounds like you have CMT in your family bigtime. Whatever type one has is the type that you all will have. You probably know this. CMT symptoms vary greatly even in the same family as you have found out in yours and I have in mine. CMT symptoms can become evident when you are young, old, or in-between or not be that evident at all.

I can understand what you are saying about the light bulbs and being hot but she doesn't feel it. Makes sense. Also her "itchy" feet would more than likely be the nerves. Bet you know that too. And the blisters and sores because she can't feel. It's always good to check her feet most every day. Perhaps she needs some adjustments to her AFO's. And maybe she already has had some but the AFO's shouldn't be doing that to her from what I understand. They should fit well.

I do hope that you get all the help you need to deal with all of her symptoms. It does sound like you are getting it and that there probably is more going on than CMT. I wish you well and thanks again

[lynxgal]

Hi Denea,

Just popped in to say hi and I hope the testing went well.

My Dad, who also has CMT, also has sleep apnea. He was told by his Neuro that it was from the CMT.

Kelly