Als

[planningguy]

Not to threadjack, but just to follow up with what Lydia said, most mito diseases alter lifestyle, but usually don't end up significantly changing lifespan. There are some that do mimic the more worrisome effects of terminal diseases like SMA and ALS, but they are rare. They are at the present time incurable as they deal with mutations in mitochondrial DNA.

For me testing for mito disease cost about $3500-4000 (full amount not my copay). The test series my neuro chose involves a blood draw of about a half dozen vials, so it is a cakewalk compared to other tests (Lydia, I'm boggled by your holdup given that any tech can do the draw then send it to a specialty lab. Maybe your dr. wants something a little different). The lab we are using must be used to being challenged by insurance companies because they have a program where if you pay your 20% copay within three weeks of them receiving the sample, they guarantee you do not have to pay any more. They do make you sign a release that lets them appeal any decision of your insurance company and badger them a bit.

It's probably most worthwhile to test after hitting your annual deductible. Since there is no cure for mito diseases, ruling it out for me took a lower priority to other testing. I should get my results back in a week or so.

Take care,

Robert

 

[lydia]

Robert, from what I understand seeing the specialist was to initially involve some sort of prolonged exercise where they gradually increase the amount of effort required and take repeated blood draws at various time points; the blood draws would be tested for levels of....lactate (?) pyruvate (?) something else, and another something else that I don't remember. Scheduling it was complicated by a communication break down between him and specialist regarding a change in some pre-requisite; I think to weed out people from unnecessary testing or possibly to provide some sort of preliminary info. I don't know. I was so irritated with the doctor when he finally called me (after 4 weeks) that I thought it best to delay our conversation until I could control the tell-tale snotty tone in my voice. I am to call him when I return from vacation, refreshed and happy. He never mentioned a DNA test. I just read that a muscle biopsy is necessary. If I ever get to the specialist....

Looking forward to hearing your results.

Sorry again for side-tracking thread-

Lydia

 

[brendapals]

lydia,
I'm a side-tracker too-
just wanted to say have a marvelous vacation!
-brenda

 

[lydia]

thanks Brenda, it is on the order of a dysfunctional family vacation so I will do my best. Just realized this wasn't BooBoo's thread to begin with, it is Raoul's! Sorry Raoul from all of us.

Lydia

 

[CindyM]

Sorry Robert, Lydia, April, but reading this thread makes me glad I spent the last 2+ years deciding to wait until the disease presented itself. (Something it apparently declines to do, LOL!)

JMO, but I don't have a lot of time for research and, being basically lazy, I decided to just wait it out. :lol: