I found out a year ago that I had CMT. I came to terms with that then 6 months later found out I had CMT type 2ND. I was told only 3-5 families in the whole world have this type. I came to terms with this and now one of my brothers showed my genetic results to a hospital and CMT genetic specialist in England, ( I'm English but live in Sweden), he also explained about my unusually rapid progression of this illness........ the results..... they are 99,9% sure I have been misdiagnosed. I called the neurological department at the hospital here in Sweden. Instead of concern, help or some form of positive response they shouted at me and told me they are not in the habit of making mistakes. They are refusing to check further.
My biggest concern is the rapid deterioration. My breathing is very bad during the day and at night I can't breathe. I can't swallow properly. I have nose bleeds everyday, ( I have done for 2 years). I constantly feel sick & dizzy. I'm unable to shake my head for fear of passing out. The strength in my hands have gone from 23kg to 9kg in 8 months. Plus I have balance issues even with my calipers.
My neurologist is aware of this but says it's not really relevant to my illness so not to worry.
What to do?