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Old 01-05-2009, 08:19 PM
Busymommie Busymommie is offline
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Join Date: Aug 2006
Location: Winston-Salem, NC
Posts: 116
15 yr Member
Busymommie Busymommie is offline
Member
 
Join Date: Aug 2006
Location: Winston-Salem, NC
Posts: 116
15 yr Member
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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.
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Denae- Mom to
Riley (9)- Lennox Gastaut Syndrome & Charcot- Marie-Tooth
Brittany (11) a Prissy Princess
Sarah (14) Aspergers Syndrome
Victoria (16) Above Average Teenage sister
Jade (11) my niece, but now also my baby
Jacob (6) Possible Aspergers, but we have to sort through his anger/abandonment issues first
Jackson (4) The sweetest little guy you will ever meet.
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