Re: DNA testing at Athena Diagnostics

[Guest guest]

Hi ,

A lady from the Athena Diagnostics returned my call yesterday and told me how

much the blood test would cost to deterime if our 26 yr old son did have CMT. I

was totally shocked when she said it was over $6,000. He doesn't have any

insurance or a job. He is living with our other son as of right now. Stuart has

been tested years ago with needles and electricity. Both doctors said he didn't

have MD, but deep down I believe he does. His hands and legs look just like my

father and grandfather did.

I'm glad you sent me the email because there is no one else around here that is

going thru what I am. My sister works for MDA so she has been sending me

pamplets on CMT. The Athena person is sending me paper work to fill out, so

hopefully the blood test won't cost as much. So maybe of these days or years, we

will know for sure.

Rosie

[Guest guest]

I don't mean to butt in but I had the whole works by a lab in Mass. and it was

only about $900.00. Good Luck.

Mike B in San Angelo, Texas

[Guest guest]

Athena has a special Patient Advocate program that reduces the cost of the DNA

test significantly - to under $200 for 1 sub-typing (more if you are testing for

other sub-types). Ask about the program and they should be able to help.

[Guest guest]

How important is it to have the DNA testing done. I am sure the

neurologist will start with the EMG and NCV, but is that definitive

enough for diagnosis and treatment. Does it make a difference when

trying to apply for disability? Just curious.

Amy

[Guest guest]

To check for CMT, would that be considered one test, or is there different

testing for this?

Rosie

[Guest guest]

Hi Amy:

I had DNA testing done after my neurologist conducted both EMG and NCV

tests. In fact my neurologist was present when the EMG & NCV tests were being

conducted. He looked at me and said I am quite sure you have CMT. He immediately

used his cell phone to call another Dr. in the genetic lab at the same hospital.

Then he told me a little about CMT and we both realized why I was having certain

symptoms. He wanted to make sure I had CMT and what type of CMT I had so we

could move forward from there.

They simply took 2 small biles of blood and within a month I was diagnosed via

DNA has having CMT1A. About 70% of us have CMT1A. There are different types of

CMT, with different symptoms and severity.

By having a positive DNA test I was provided with a document (letter) that would

allow my 3 siblings to get tested for CMT in their Province. I can also have my

son tested if the need arises.

I think that DNA testing provides the patient and doctors with 100% proof of

what they are dealing with. It is possible for DNA test results to come back

negative, even though a person really does have CMT.

Four years after my DNA testing I had to retire. The pain and fatigue were

draining me physically and mentally. I applied for CPP Disability Pension, and

was approved within 1 month. I have other health issues, for example in 2004 I

had 3 angiograms and 2 angioplasties. But the bottom line was my neurologist

wrote my family doctor a letter stating that because of my CMT " it was perfectly

reasonable that I should no longer work " . There was no reason for CPP to doubt

that I had CMT because I was diagnosed via DNA. End of story.

Sorry for the diatribe, but I hope this helps.

[Guest guest]

I would feel much better about my diagnosis if I was able to have a definative

diagnosis. They have always suspected CMT for the last 20 years, but the DNA

test I had came back negative. It is nice to know the type you have,

particularly if you have children. There are so many types, some that affect the

nerve at the nerve end and some that affect the nerve at the muscle end.

It would probably be good to know so when therapies and genetic treatments are

found, we will know which is the best route based on the type of CMT. There are

so many different types. When T first learned, I only knew of CMT1 and CMT2 and

did not even understand the difference.

Jackie