Next step now that tests came back negative

[Guest guest]

Hi Ken,

With slow NCV's, in CMT, that's an indication of CMT 1/or it's

subtypes, but then again, I am not a neurologist! lol On the other

hand, there are many neuromuscular syndromes and other hereditary

neuropathies that have slow NCV's.

Forget the nerve biopsy right now. It won't " diagnose " CMT and give a

clear-cut answer like you want. I had a nerve biopsy when I was a

teenager, it was normal - just like all my other tests.

Two things come to mind: 1) how about a 2nd opinion from another doctor

based on your symptoms, history and tests, and 2) if you are concerned

for your son, he could be tested for CMT - but maybe wait for a 2nd

opinion. Something tells me the doctor is missing something here - just

my intuition working overtime again.

~ Gretchen

[Guest guest]

Gretchen,

Hi and thanks for your input. I have that very same concern...that

the doctor is missing something. However, I don't think that a

second opinion will do any good. This latest was a specialist in

genetic medicine. He believes that I likely have some form of CMT

that they cannot test for, or another condition which has peripheral

neurology as a side effect. Before the test results, he was pretty

sure I had one of the X Linked varieties. Previous to this, I was

seen by two neurologists and one doctor in physical medicine. I've

had the NCV tests run twice. Everyone agrees on a " slowly

progressing peripheral neuropathy " and (at least before the tests)

they had agreed that it was some variant other than Type 1A (an

earlier FISH test came out negative).

I am no doubt overreacting, but I've experienced a lot of years

(decades) of mistaken diagnoses, inappropriate treatment (both

medical and personal) and lots of antidepressants and such (offered

to someone who had to be depressed with all of those complaints

about pain and fatigue). I should be grateful that I am one step

closer to an answer and am taken seriously as a result of the NCV

tests. Instead I am disappointed that what promised to be a

definitive answer was dangled in front of me and proved to be

a " zero. "

Without a firm diagnosis I have to wonder whether Kaiser would be

willing to incur the costs to check my son, since at 25 he is not

showing any of the symptoms that I had by his age (scoliosis, funny

gait and difficulty in building muscle strength).

Ken

[Guest guest]

Ken,

You can rest assured that if you have CMTX ( or another dominant X-

linked disorder) that you did *NOT* pass this on to your son. Only

your X chromosome would be carrying this (one or both of them actually... though

usually only one).

You would have contributed your Y chromosome to your son... he would

have gotten the X from his mother...

Small comfort, I know. But perhaps one worry to put behind you.

Barbara

FYI ...If you had a daughter, she would get an " X " from you and you

might pass it on to her.

Strange but true... sons who get CMTX from their mothers usually have

more symptoms than daughters who get CMTX... the son of the son can't

have it... while any offspring of an affected woman can...

[Guest guest]

Ken,

I am in the same boat and have been to 2 very reknowned specialists in Baltimore

and then went to the National Institute of Health. I have had 4 separate genetic

tests and all have come back negative. I had the nerve biopsy in my 20's (I am

now 44) and all it did was rule out some of the neuromuscular diseases.

I too am anxious to know if my son has it or is a carrier, but until they can

pinpoint the type I have, they said it is pointless to test him. I just try to

observe and watch how he walks.... but more importantly, I just try to live

without thinking about whether he has it or not. In other words, will cross that

bridge when I get to it.

Good luck; keep me posted.

Jackie