Re: Genetic test Help

June 2, 2006

That test at Athena (after some mishandling and re-test) discovered my MERRF

A8344G. I had " free care " which is the slang name for the low/no-income Medicaid

" booster " available in Masachusetts. I had applied for this through Mass.

General Hospital in Boston, so it's not entirely clear to me whether MGH helped

pay beyond what Medicaid would have. All I know is, the neuro doc visits (NOT

just the MDA clinic) and the tests (incl. MRIs) were free to me. Good luck!

According to

http://www.athenadiagnostics.com/site/product_search/test_description_template.a\

sp?id=208

they test for the common and not-so-common MELAS and MERRF, namely MELAS 3243,

MELAS 3271, MELAS 3252, MELAS 3256, MELAS 3291, MELAS 13513, MERRF 8344, MERRF

8356, MERRF 8296, MERRF 8363, NARP 8993.

This of course only looks for certain known genetic flaws. I would think that a

fresh muscle biopsy analyzed for the individual complexes of the ECT would be

more to the symptomatic point (but probably even MORE expensive). True, though,

I can personally attest that it's been very " reassuring " (and certainly, more

convincing to other docs and the SSA) to get my MERRF result.

Steve

Genetic test Help

I've posted on the list before about one of my grand daughters, 18

years old, has been ill for a long time. Her problems have been so

varied and resistant to treatment that her doctor is finally ready to

consider mito. Neither my adult daughter with severe symptoms nor I

have a defined diagnosis. I just talked to my neurologist's office by

the way he is also my MDA doctor. I was told that the only test

available is #519 by Athena Diagnostics. This is not usually covered by

insurance. The cost is 2895.00, even 20% is 579.00. Does anyone know of

any alternatives?

I have had 3 muscle biopsies without a defined diagnosis, one of them

done at Cleveland.

June 3, 2006

Dear Pat,

I'm no expert on this subject, but my understanding is that there are

an enormous number of possible mutations that can cause mito and only

a handful have been identified. Therefore, it seems unlikely to me

that most people would find their mutation in a genetic test--unless

perhaps their symptoms were very typical of one specific mutation

(e.g. MERRF, etc.). I decided not to get genetic testing because I

thought that the likelihood of finding a specific mutation for me was

extremely low. (I hope someone else in the group will say whether I'm

right or wrong about this.)

I went to a mito specialist who said that there is no definitive test

for mito although some people get definitive results. Her opinion was

that definitive results are ideal but not always possible. Therefore,

good mito docs should have some way of deciding whether mito is likely

or not no matter what the biopsy results are. She said that people who

didn't get definitive results could be given a clinical diagnosis and

treated for mito if a mito specialist believes that there is enough

evidence (medical history, family history, current symptoms, blood and

urine tests, perhaps certain exercise tests, etc.). This is what

happened to me. Without the genetic testing and without a clear biopsy

result, she gave me a clinical diagnosis and is treating me. Is there

any way that you can see a doctor like her? (She is in Boston).

Best,

Shayna

>

> I've posted on the list before about one of my grand daughters, 18

> years old, has been ill for a long time. Her problems have been so

> varied and resistant to treatment that her doctor is finally ready to

> consider mito. Neither my adult daughter with severe symptoms nor I

> have a defined diagnosis. I just talked to my neurologist's office by

> the way he is also my MDA doctor. I was told that the only test

> available is #519 by Athena Diagnostics. This is not usually covered by

> insurance. The cost is 2895.00, even 20% is 579.00. Does anyone know of

> any alternatives?

> I have had 3 muscle biopsies without a defined diagnosis, one of them

> done at Cleveland.

>

June 3, 2006

My sister's (inital testing), mine and my son's blood tests were sent to a lab

in Los Angeles by our doc in Milwaukee. Not sure if they still do testing but

the name and address is:

University Childrens Hospital

4546 Sunset Boulevard, Mail Stop #1

Los Angeles CA 90027

This was there address Jan 2003, as well as 1996 and 1997.

All of our tests were done there--even my sister and mine. The tests took about

a month and half to come back.

Not sure where my sisters muscle biopsy was sent but it was a frozen emergency

one done when she was in a coma. The blood test results that were drawn two

months before came back while she was in the coma and they gave her

expierimental DCA based on that.

Anyway, with my testing in 1997 our military insurance covered everything

partially. We still had to pay the copay.

Janet Sample