Discussions By Condition: Medical Stories

McArdle's Disease (Phophoglycerate kinase deficiency)

Posted In: Medical Stories 0 Replies
  • Posted By: Anonymous
  • February 28, 2009
  • 02:59 PM

If you are diagnosed with this disease and are looking for the best information go to the Muscular Dystrophy Association website. I went through the full, excruciatingly painful, neurological testing to rule out all of the life threatening M.D. diseases such as Lou Gehrig's. This went on for a 3 year period. My initial diagnosis were all wrong and I made the awful mistake of going to a pain management physician who treated me with pharmaceuticals that made me into a zombie. This had no effect on the disease and made me nearly unable to work. One very good neurologist was very close but it took Dr. Jeffrey Perkins, who is an amazing doctor and clinician, to finally put it all together for me. Unfortunately, treating this disease will only give you increased comfort.

I suffer from moderate to severe muscle stiffness and cramping. Repetitive motion is very problematic. The right side of my body is more affected then the left with severe fasiculations down my right leg. I can make nearly any skeletal muscle in my body cramp at will. Sitting or standing too long can increase my symptoms. Dr. Perkins considers me lucky as I am able to function quite well compared to two other patients he has with the disease. Some days are worse then others and I have been unable to figure out why.

As there is no pharmaceutical avenue for relief I have utilized a functional medicine approach with Dr. Perkins and Dr. Ann Carey-Tobin. This approach attempts to insure you are at optimum base line health before trying other treatments. Through this process I found out that I am vitamin D deficient, have a low tolerance to dairy and wheat products, and do much better when I avoid products that have a high number of additives. (Yes, no more Cheese-Its.) I am about to do some more hormone testing in the very near future.

I am taking the following supplements but I strongly urge you to do this only after finding and meeting a functional or integrative medicine M.D. I am purposefully leaving out amounts as you must not copy my treatment regime. This is offered just to help you in your research and creation of your own plan that should be done with a doctor who has embraced intergrative/functional medicine. They are out there but can be hard to find. Many are not covered by health insurance plans. Go figure. Here are my supplements for this disease:

A high quality multi-vitamin (In-Vite, 3 pill packets)
Liquid Vitamin D
Calcium from vegetarian source
Magnesium glycerate
Acetyl L Carnitane
Cordyceps (considering stopping as there appears to be no effect)
Creatine monohydrate (most recent, jury is still out on this)

The MSM, d-ribose, Creatine monohydrate and Cordyceps I add to a morning shake of almond milk, whey protein, peanut butter and banana. I have another shake at lunch that includes whey protein and d-ribose.

I am also using massage (not deep tissue as it seems to rile up muscle twitching and pain). I have recently started acupuncture and am optimistic on the initial result. I have used good chiropractic care but that is hard to find as my bar is very high on what I consider good chiropractic care and find it to be of only limited utility.

I practice yoga (I use Wii Fit and love it.) and have started studying and practicing Qiigong for low impact fitness, cultivation of energy and general improvement on my spiritual fitness. Yes this disease takes it's toll on you mentally and thus you need to do something to keep your spirit up.

I pretty much can do most anything but with limits. I enjoying hiking which is a perfect exercise fit as I am to control the energy demands on my muscles thus actually enjoy a fun activity.

I no longer suffer excruciating muscle cramping and am able to overcome muscle stiffness more quickly. I frequently wonder how I am ever going to get by as I get older and this disease progresses. But, hey, if you are going to be diagnosed with a M.D.A listed disease this one of the ones to be thankful you have.

Good luck. This is serious but if the disease is affecting you like me you'll be okay. Just find some solid health care to lead you along and make good health your priority.:)

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