Yesterday I called them to see if I could get the spinal tap moved forward (done before my appt. on the 16th)

Today they called and said the neurologist has an appt. opening today if I would like to see her.
YES!

Neurology is usually crammed full and any getting in sooner is great!

They said the spinal could be done in 3-5 days and from there we shal see. (they don't like it when patient suggest disorders, so I'm sitting back and hoping something shows up, but I have a feeling the spinal tap is going to be the test that does it for me)

So HURRAY!

I hope you get a correct diagnosis.

As you know, a spinal tap is a general diagnostic tool used for many neurological disorders. In CMT the spinal fluid is clear. With other disorders it is not. There are other tests: EMG/NCV and then DNA blood testing for CMT.

Thats why I think its a big test for them to run.

If the tap is negative it means CMT. And then they can do the blood test. (they are also repeating an EMG, since my last one was a year ago)

If the tap shows things, then it excludes CMT, but I'm very limited on what it could be apparently as I have primary demylenating.
(Or so thats what the neuro doctor said)

I just think its an important test, and the Athena DNA test is very pricey and not covered by my insurance at all. (I looked last night)
So ouch.

I am glad you got in early. That happened at my neuro too. I happened to call and they had an opening that afternoon and usual weight is for ever. Sometimes if I have an apt that is far off I will call everyday and I have gotten in early a few times. I hope it gives you some answers and direction. Many thoughts

Yes, DNA blood testing is very expensive especially if you have to have the whole panel of tests. However, Athena Diagnostics does have a plan to help with the expense.

A neurologist who is an expert in CMT does not do a spinal tap. In your case, since there certainly seems to be something going on, your doctor has decided to do one in order to hopefully find out what the problem is. I hope you get a diagnosis and then go from there. Take care.

There are no neurologist that specialize in CMT or really any of the neuropathy disorders here.

They are all general neurologists.

I wanted to stay locally because gas prices are high, and I JUST got a job.
(like I don't even start till next week)

So, thats why I get general testing.. because they don't know top from bottom.
I get the same tests over and over and over. (This will be my 4th EMG in 2 years)

They repeat the same blood tests even with knowledge of the results.

I get tired of going in the same darn circles.. but I don't feel like driving 3 hours and waiting over an hour to be seen at Mayo in Rochester.. which would be the closest thing to a "cmt expert''.

I can't blame you for not wanting to drive that far. I hear you. At the Mayo Clinic in Rochester, they do have neurologists who are experts when it comes to CMT.

Do any CMT neurologists who are experts ever come to a hospital near you? Just curious. That's who I saw years ago when one came to the local hospital. However, I already knew that I had CMT - family history going way back. My symptoms outwardly were really nothing at the time. But the symptoms have progressed over the years which is normal. CMT is slowly progressive no matter what we do.

At any rate, I know that DNA blood testing is expensive but it could rule CMT in or out. As I said, Athena Diagnostics does have a plan to help with the dollars. I have not had DNA blood testing. That would give me the sub type. I know the type I have thru EMG/NCV testing and family history - CMT1. I do not need to know the sub type at this time unless they come up with a cure/treatment for CMT. That would be for CMT1A (A is the sub type) which they are doing much research on including Ascorbic Acid trials at the present time. They are doing them for CMT1A as that is the most common type.

There are so many types of CMT that they have found. 50 identified so far and no end in sight. 22+ types that they have DNA blood testing for so far. Symptoms of CMT can vary greatly even within the same family. Symptoms can become evident when you are young, old, or in-between or they may not be that evident at all.

I do hope you get some answers and I truly understand what you are saying about having to travel so far. Take care and keep us posted.