Re: diagnosis confusion -- blood test to determine CMT?

[Guest guest]

Yes, there is a DNA blood test for CMT. It is very expensive and not

all substypes can be determined. But the DNA testing can diagnose about

70 - 80% of cases. (especially ones that are autosomal dominant) The

testing lab, http://www.AthenaDiagnostics.com can provide you and your docs with

more info. About 33% of all testing shows no prior family history.

Athena has a " Patient Assistance Program " to finance the test, if you

don't have insurance, or need help to pay.

Originally, it was CMT 1 that manifested in children, with Type 2

manifesting in adulthood. Since so many genetic markers have been found

for those types and subtypes, we know more. A child can be diagnosed

with Type 2, and adults later in life can be diagnosed with Type 1, or the many

subtypes.

Gretchen

[Guest guest]

i know Gretchen can answer this better, but i will try. The only way a blood

test will confim CMT is if you actually have the genetic marker that is already

known. there are many CMT genes that have not been isolated yet to give a

positive genetic test. I have had this test done twice and it has come back

negative. Insurance paid for it the one time and NIH paid for it the second

time.

I do not have a DEFINATE CMT diagnosis, but everything points to it. CMT is one

form of peripheral neuropathy so your doctor may be using that as a general term

since he can't pinpoint it. Have you had an EMG? Is there any family history?

I did not have symptoms of CMT until i was in my 20's, although i always had a

high arch and was " clumsy " as a teenager and started losing some balance after i

turned 16 (was no longer able to do gymnastics and i was good on the high

balance beam) I chalked it up to fear of heights.

With myself, they started by ruling out spinal tumor by doing a spinal tap and

milogram, then an EMG, then a muscle/nerve biopsy and still never had a

definative diagnosis.

Jackie

[Guest guest]

Gretchen gave the info regarding Athena. It is expensive but Athena contacted

me prior running the test for my son and gave me the total cost that would be

incurred and discuss the patient advocacy program prior to running the tests.

At lot depends on your insurance. My son had a complete CMT study and the

testing for my son was $10,000 but with my insurance my total out-of-pocket was

around $2,000. My sister had the same one done and her insurance paid for the

entire thing.

When my son's results came back it showed a mutation not seen before and Athena

contacted me and asks to run some other tests at their costs. They ended up

diagnosing him with the CMT type that was the closest to what the results

showed. I was able to speak with someone directly at Athena who took the time

to explain the results to me.

You may want to consider giving Athena a try. If the cost is too much for you

just decline to have Athena run the test and the most you may have to pay would

be the cost for lab that drew the blood.

Want to mention that the first neuro we saw took one look at my son - who

obviously has something wrong with his foot and leg - and just said nope, no CMT

here. No need to do anything else. Never hurts to get more than one opinion.

(or three or four)

Good luck with your decision.

Carmella

[Guest guest]

I know nothing about the US health system but I am shocked and

disgusted to hear that you have to pay for a blood test, especially

that it can cost up to $10,000. Here in New Zealand we have blood

taken and until a few years ago it was sent to either Australia or

England and the results were back within about three months. Now it is

tested in New Zealand and the results come back sooner than three

months. But we don't have to pay for it.

A lot of people complain about our health system but if we can test for

things like this for free then I feel we have nothing to complain about.

Megs from NZ

[Guest guest]

Hi Jon,

My symptoms didn't start till my early fifties. The Athena

Diagnostics test did not find that I was a " type " already

documented. I like to think I have my own mutant gene! Anyway, I

refer to myself as having CMT cause it's easier than saying I have

an inherited sensorimotor polyneuropathy that is both progressive

and degenerative. I expect that one day my type of CMT will be

labeled.

Best of luck to you.

[Guest guest]

I had a blood test which said that I was carrying the gene for CMT and my son

had it. I did not have symptoms till I was in my 50's. I have problems With my

feet and lower legs now along with arthritis in knees and hips but I also have a

bone disease in my lower back called Pagets disease. And I use a walker to walk

with.

There are no specialiests herein Ottawa Ontario, Canada so it is difficult to

keep track of it.

I thank goodness forthis group because it has been very helpful for me

I have been to a neurologist who put me on a medication for the CMT though,

thank heavens.

Barb

[Guest guest]

Hi -

My son was also diagnosed by Athena with a mutation never seen

before. I wonder how long before they will actually start comparing

these unseen before mutations against one another. There seems to be

several of the members here who are in the same situation.

His symptoms were apparent when he started to walk. It is amazing to

me how one disease can have so many variations.