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Old 12-08-2013, 03:10 PM
Susanne C. Susanne C. is offline
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Join Date: Jul 2011
Location: Mid-Atlantic coast
Posts: 721
10 yr Member
Susanne C. Susanne C. is offline
Member
 
Join Date: Jul 2011
Location: Mid-Atlantic coast
Posts: 721
10 yr Member
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I have a lot of trouble with typos sometimes too! Honestly a lot of your symptoms sound like CMT. There is a series of blood tests available from Athena labs, you probably have to have the whole panel done, and even then it is not conclusive because there are variants that are not tested for as yet, and a certain margin of error. On the HNPP test it was 15%. It is very expensive, but your insurance may cover it.
My local neurologist sent me to Johns Hopkins for a second opinion, he did an EMG/NCS and ordered the test for HNPP, offered the rest of the panel and a spinal tap, but agreed that further testing was pointless since there isn't any treatment for CMT. I was okay with that, but I can certainly understand if you want more closure. My son has this too, so I wish now I had had the panel done when our insurance was better.
Many doctors would just make the diagnosis of CMT on your symptoms. My doctor just kept saying "it looks like CMT" and finally "it's probably just CMT" when she sent me on my way. She told me there was nothing that could be done and no reason for me to continue seeing her.
My family history is confusing because I am illegitimate but my half sister wore leg braces from childhood, my father drank to kill the pain and couldn't get out of chairs or use his hands very well. He fell when a child on a trolley track and lost several fingers but his abilities were remarkable when he was young and definitely dropped off as he got older. So many people blame arthritis or aging which complicates getting a clear history.
CMT affects everyone differently and some doctors believe it isn't painful or disabling, both of which are not true. Plenty of people use canes, end up in wheelchairs, and are on pain medication. The younger you are when the symptoms start, the more it progresses, generally, but there is no real way to predict. I have had symptoms since early childhood, restless legs and clumsiness, high arches, and walked on the sides of my feet, but was just brushed off as accident prone and lazy.

I hope you get a more hopeful DX in the end.
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