Comments on: Whew! McArdlesDisease.org is FINALLY Online.

By: Lee Clendennen

Lee Clendennen — Sun, 28 Feb 2010 19:39:47 +0000

Thanks it is good to be back, the site changed and I could not log on. Maybe just getting to old .

By: Jim Ottesen

Jim Ottesen — Sat, 07 Nov 2009 17:48:18 +0000

Site Admin or other “M” Patient:

I just received info on a blood test for McArdle’s Disease
from a party unknown to me and I wondered if you have a source that
could confirm or deny the information. Specifically, the test or tests
read:” Karyotype as well as FISH for 22q11 deletion syndrom. ” Since
I have no medical training, I can’t begin to understand if this test
exists or has been proven. However, if of value I do know it could save
many concerned folks hundreds of thousands of dollars in biopsies and
give parents piece of mind. Thank you in advance for any information on
this subject. Jim Ottesen

By: Jim Ottesen

Jim Ottesen — Fri, 30 Oct 2009 03:51:37 +0000

Donna,

Some thoughts: Is your child in PE? What caused his CPK to soar to
353000? How was he diagnosed and where? How often does he have bad cramping spells and do you know why? If your son needs an operation,
be sure he is protected against those anesthesias which can cause
Maligant Hyperthermia. Any allergies, gout, high blood pressure, etc.?
A nephrologist should be consulted whenever serious CPK spikes occur
to be sure the kidneys stray OK. Good luck! Jim Ottesen

By: donna

donna — Thu, 29 Oct 2009 17:36:58 +0000

@donna Another thing my son has Maligant Hyperthermia too We found this frist before the McArdles

By: donna

donna — Thu, 29 Oct 2009 17:33:20 +0000

@Wendy

HI My son has McArdles too. He is 17 We went through alot to find out. His counts run around 1200 to 1700 normal. It has been as high as 353000
plus. If he has a spell with the rhabdo. he will be in the hospital for 3 to 4 days. He has a great dortor if he feels it coming on we go to him and he will give him I V ’s (2 to 3 bags) that helps to keep him out of the hospital. If he does to much he gets very tried. With him he swells in his feet and hands he does hurt but he don’t complain much he has handled this like a champ. He goes to school but he has bad days and comes home very tried. We don’t know anyone his age with this. I have meet a man thru their Dr and he is in his late 30’s with this. I’m sorry your son has this

By: Jim Ottesen

Jim Ottesen — Fri, 16 Oct 2009 02:49:52 +0000

@Wendy
Wendy,
You mentioned “enzyme replacement” therapy might be a real possibilty
in the not too distant future in your last posting. I heard they
had done some experimentation, but never read about results. Is there
a website I can visit or are you aware of recent reasearch in this regard? It is possible many could benefit from such a therapy and
anything we can do to call attention to this effort could be highly
beneficial. I am with MDA now and the benefits to me in terms of
peace of mind are dramatic. I am happy your son also is receiving
the blessing of their expertise. Please get back with me. Jim Ottesen

By: Jim Ottesen

Jim Ottesen — Fri, 16 Oct 2009 02:35:28 +0000

@Crystal Riffle
Crystal, Did you ever get an answer to your concern that you might
be a carrier of McArdle’s Disease? I’m sorry to hear your husband has such a bad case. I do understand your concerns for the children, but I
recommend a consultation
with Dr. Slonim to help put your mind at ease. I assume neither you nor the children manifest any signs of “M.” That alone should help to give you peace of mind, but genetics and “M” warrant the thinking of Dr. Slonim
to rule out any possibility. I pray your husband will do much better
soon and that his CPK is much improved by now. Let us know what happens.
Jim Ottesen

By: Lucy

Lucy — Thu, 15 Oct 2009 14:04:10 +0000

Cherlyn, when I was pregnant I was 5′1″ and 105 lbs, I along with many other’s went through without a problem, just make sure she maintains a good diet and consults her doctor, if she feels uncertain and thinks there maybe a problem have her doctor do a phone consult with a Physician that is knowledgeable with the disease. I don’t foresee any problem’s unless she is have a of problems now.

By: Jim Ottesen

Jim Ottesen — Thu, 15 Oct 2009 02:13:09 +0000

Cherlyn,

Did you get a consult for your daughter? Let us know the recommendations so we can share with others. I wanted to add that
this site offers excellent insight for pregnant women with McArdle’s
Disease. Check it out. The only concern I would ask you to
investigate is any use of anesthetics – most are OK, but some may
cause problems. Be aware and make sure your doctors are aware of
this unusual risk. Keep us posted. Jim Ottesen

By: Jim Ottesen

Jim Ottesen — Sat, 10 Oct 2009 03:05:42 +0000

Hi Folks! Well my update is that I left Florida To visit Charleston, S.C. for a few weeks and discovered that a vacation should never interrupt your personal exercise program. Already, the aches and pains
and sleeplessness are back to haunt me. As an “M” patient, our best
“breaks” are those we take to keep our bodies in the best physical shape we can. I must say the food here is great, but I fight the temp-
tation to overdo as the effort to keep my body tone is a constant one.
My suggestion is to take your “yoga mats”, etc. and stay in shape without pushing too hard. Remember to take your nutrients on your vacation – especially the B-6 and other things your doctor recommended.
Well, that’s all for now. I’ve got a date at the gym. Later. Jim Ottesen