Join now

Already a member? Sign in

Welcome to Inspire!

What - Inspire is a place where you can connect with people who share your health concerns and find information and advice in groups sponsored by organizations you know and trust.

Why - As a member you can use Inspire to let friends and family know how you're doing, contact others who share your health concerns, receive personalized updates and information about participating in surveys and clinical trials, and more.

How - Joining Inspire is completely free and usually takes less than a minute. Join now!

corner corner corner

Glycogen Storage Disease V, McArdles Disease

JudyC
1 Recommendation

I am having a hard time finding someone to corresponde with who has McArdles Disease. If there is anyone out there, please contact me.

12 replies

buzz1

My husband has spent the past 5 years trying to find a diagnosis for his disease. (He is 70 and I am almost 65.) Just recently he received a request from Oregon Health Science University to be tested through a previous muscle biopsy for McArdle - Glycogyn Storage Disease! Please write back and let me know your symptoms, experiences, etc. !

JudyC

I am a life long sufferer of McArdles. My parents took me to many doctors when I was child to find out why I couldn't keep up with the other kids. The doctors told them I was lazy or enemic. As an adult, it got to the point where I couldn't walk up two flights of stairs without my legs feeling like they were buried in concrete. A little incline felt like I was climbing a mountain. In the shower I could only rinse my hair once because I didn't have the strength to lift my arms any more. I had a muscle biopsy in 2003. It confirmed that I have McArdles. I have been to many Muscular Dystrophy clinics, and Neuologists. In December 2007, I went to an MD clinic and the doctor just looked at me and told me to take caffeine pills!!!! That didn't even sound healthy to me. I was walking with a cane at the time. He told me that I would be in a wheelchair soon. I thought for sure the medical community had more than that to offer as a treatment. I was determined to find someone who knew about this disease. I got online and through the Glycogen Storage Disease web site, I found a clinic in the United Kingdom for people with McArdles. I was accepted to attend the clinic this summer. My contact person, told me that the brilliant doctor who started their clinic is based in New York. I chose to go to New York rather than abroad. I saw the doctor in February. I am now walking on a treadmill 60 minutes a day! He told me more than I had heard or read about the disease. I knew that McArdles patients didn't make a certain enzyme. What I didn't know was that the enmzyme kicked in when a body starts moving their muscles. Since we don't have the enzyme, we get tired instead of rejuvinated!
SO, th edoctor put me on 12 oz of protein plus two protein supplements to replace the enzyme. I haven't felt this good in years! I don't know that I have ever felt this good. I never felt better in my life than when I was pregnant. I have three daughters. The doctor said that when a women with McArdles is pregnant, the baby gives back to her the enzyme that she is missing, and that is why she feels good. Isn't that interesting? I am scheduled to go back to New York in August. I'm hoping that I will be able to go. It is an expense. My husband had quadruple by pass surgery last year, and has just gone back to work.
I hope to hear from you again. I would like to hear your story.

buzz1

How encouraging, Julie C! I intend to take the info you've provided when we go to my husband's specialist at OHSU on July 1 and see what he says. We have not given the ok to do the testing on Buzz's muscle biopsy, but guess we should do that to make sure of the diagnosis! Nothing has helped so far and I can see the days of a wheelchair coming in a year or so unless we have a miracle. Thanks for giving us some hope!

LukeNathaniel

I created this site, http://www.mcardlesdisease.org, in order to try and increase awareness of the disease and also share information amongst those of with McArdle's Disease, that we can better manage the disease. Please visit the site and contribute as you feel comfortable!

icklelil

My partner has recently been diagnosed with this and is currently in hospital as we speak undergoing treatment. Would be nice to hear from anyone who has the same problem.

many thanks

Miss_Deb

Hi Judy and friends...I am new to this website. I was diagnosed almost 20 years ago with Late Onset Acid Maltase Disease, also known as AMD. I am told that there are 3 types depending on the age of diagnosis. Pompe, Mcardles and Late Onset AMD. I was so fortunate to find Dr. Alfred Slonim in NY. Is he by any chance the Dr. in NY you visit?

I am interested in finding patients to talk to about this condition and it's challanges. My name is Debbie and I live in Massachusetts.

TammyA

Hi my name is Tammy and I was diagnosed with McArdles disease March of 2008. I have had symptoms of this disease since I was 14. I use to be a competative runner and then at 14 I started to get extreme fatigue and muscle injuries. They told me at the time I had juvenile arthritis. I stopped running and delt with the pain and fatigue going to the doctors periodically hoping they would tell me something new. Almost every doctor thought it was in my head and prescribed me anti depressants. Frustrating. Finally when I was 25 I got pregnant and never felt better. I had 4 children and during those years I thought I was cured. Two years after my 4th child everything came back. I went to the doctor in tears and he told me he believed me and would not stop investigating until he found out what was wrong with me, It was a huge relief to find out what I had and that I was not crazy. It was also a relief to know that my children should not get it. Since I found out I have changed my life as far as eating and exercise. I run 4-5 times a week not too much and just enough to keep my fatigue down. I cut out most complex carbs (very hard to do). I have felt much better. But I have a couple of questions. One, JudyC how do I get the protein supplements and two does anybody else get 100 times worst during the summer?
Thanks so much!

JudyC

Yes, Dr. Slonim is the doctor I saw in New York. Unfortunately, I was not able to travel back to NY for my 6 month follow-up visit. I am concentrating on my diabetes right now. I have a new insulin pump, and I am doing much better now.

I tend to get worse in the cold weather, not the summer.

I order the protein supplements. If you want details, I will be glad to give them to you.

JudyC

I have three daughters. I never felt better in my life than when I was pregnant. Dr. Slonim, in NY, told me that he has not met a woman with McArdles who didn't feel her best while pregnant. He said that the baby gives the mother the enzyme she is missing while she is pregnant. I thanked my daughters after I found out!

I order one protein supplement, Bene Protein, from Walgreens on-line. The other is an Rx Dr. Slonim gave me for L-Alanine. I know that you can get Alanine at GNC stores. I tried it, but it made me very nauseated.

ShannonR

What type of Alanine can you get at GNC stores? The type Dr. Slonim gave my daughter was prescription only and we have to order it from a pharmacy in New York. It is a fine powder and we mix it in water. She takes it four times daily. It's about $165.00 for a 4-6 months supply, depending on how many flares she has and how much we have to increase her dose here and there.

JudyC

The Alanine from the pharmacy in New York is my preference. I will have to look at the bootle from GNC and let you know.

Add to the discussion

Don't have an Inspire account? Join now!
Forgot password?
Keep me signed in on this computer until I sign out

Group leaders

You