Comments on: Adult-Onset McArdle’s Disease – Is There Such a Thing?

By: Jim Ottesen

Jim Ottesen — Fri, 16 Oct 2009 19:58:25 +0000

Wendie,
If not done yet, contact your MDA (Jerry’s kids) and I believe they might try to help you get started. In your case, if “M” is the culprit,
an inexpensive start is a CPK blood test. If very high, we are close
to an answer. To confirm, perhaps the doctor could skip the biopsy
and just do the “ischemic forearm test” to measure lactate response.
Is his weight under control? He must try to limit the pain meds as
much as possible and ask his doctor for the new medicine to enhance
energy without all the risks. I do not remember the name, but your
doctor should. Let me know what you accomplish. Best of luck, Jim
Ottesen

By: WENDIE

WENDIE — Thu, 30 Jul 2009 01:40:38 +0000

MY BROTHER HAS BEEN TO ALOT OF DOCTORS IN THE PAST 2 YEARS. THEY SAID HE HAS EXCESS GLYCOGEN IN HIS SYSTEM. DO NOT HAVE THE RESOURCES TO TEST TO SEE WHAT TYPE OF GLYCOGEN DISEASE HE HAS. WE HAVE DONE MORE RESEARCHING THAN THE DOCTORS. WE ARE 99% SURE HE HAS MCARDLES. THE DOCTORS WHERE WE LIVE ARE NOT FAMILIAR WITH THIS SO WILL NOT DIAGNOS HIM JUST GIVE PAIN MEDS. HAD TO QUIT WORKING 9 MONTHS AGO FROM PAIN AND FATIGE. HIS WIFE IS SOLE PROVIDER OF FAMILY OF 3 AND DOES NOT HAVE INSURANCE NOW. IS TRYING TO GET DISSABILITY BUT THATS HARD WHEN YOU DONT HAVE INSURANCE. HE TRIED PRIVATE INSURACE THEY DENIED HIM CAUSE PAST HISTORY. DOES ANYONE HAVE ANY ADVISE OR KNOW ANYONE WHO CAN HELP HIM GET A DIAGNOSIS?

By: robert

robert — Sun, 15 Feb 2009 20:35:31 +0000

I somewhat disagree, since it is feasable that a virus or bacteria
could theoretically infiltrate the body and affect an enzyme system.
The fact that Pompe disease shows up in adults often age 50 plus is
also supportive, since it too is a glycogen storage disease.
I have postulated to the people involved in the research on Pompe, and
they admit it is a possibility of a viral component, but nobody has looked at that yet. It may be especially important a finding in one who has a low level of enzyme but not definitive.
There are a few cases of McArdle’s showing up in elderly people.
It’s food for thought perhaps.

By: Sharon Collins

Sharon Collins — Wed, 19 Nov 2008 12:01:13 +0000

When I was in PE in the late 60’s I actually had people run behind me and push because my jogging was so impaired. I suffered a lot of teasing and shame because I was so “out of shape.” I could agree with you more Stacey, if you’ve got it you have suffered a lifetime.

By: Stacey Reason

Stacey Reason — Mon, 27 Oct 2008 16:14:00 +0000

It just doesn’t make sense for there to be an adult-onset of McArdles – either you have the enzyme or you don’t!!! Everyone I have spoken with has had childhood symptoms even though many were not diagnosed into their 3rd and 4th decade. A rare genetic disorder is not the first thought when a child complains of leg cramps or weakness.

I couldn’t agree more – AWARENESS is the key!