What is McArdle’s Disease?

What is McArdle’s Disease?

McArdle’s Disease is a metabolic disease affecting skeletal muscle. It is also known as Type V glycogen storage disease.

An Overview of McArdle’s Disease

McArdle’s disease is a rare muscle disease affecting approximately 1 in 100,000 people. Because their muscles cannot properly metabolize energy, individuals with McArdle’s disease may experience fatigue and failure during strenuous activities like jogging, swimming or even walking. These episodes can result in painful cramping injuries that require medical attention. McArdle’s disease is an inherited condition, and is caused by a missing or non-functioning enzyme needed to make glucose for energy. While this condition imposes significant physical limitations, it is not directly life-threatening and with the proper precautions and lifestyle management, people who have McArdle’s Disease can live healthy, active lives.

About This Website

This website, mcardlesdisease.org, has been created to increase awareness of this rare condition. This site contains two types of content: general information and links about McArdle’s disease, and McArdle’s disease blog articles from individuals with the disease describing subjective experiences with the condition.

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387 thoughts on “What is McArdle’s Disease?

  1. Miguel

    Hi everyone,

    I have been going to the gym a couple of months now and I can tell you that I already feel much better. I am doing a very careful routine, with a half an hour cardio. Then I do two series of 12 reps with very low weight and then I do two more series of 12 with about the 80% of yhe maximun weight I could tolerate for the same number of repetitions. I must say that I am very happy with the results so far. My energy level has increased and my exercise tolerance has also increased greatly. Now I am thinking in lossing some weight as I am slightly overweight. I am 182 pounds and 5 feet 8. My legs are much more muscular than anyother part of my body and I am not as fat as I may seem in figures, but definitely could lose some.
    Any suggestion for dieting?

    Reply
  2. scott Effertz

    @Stephanie
    Hi all, I have been dealing since i was 9 now im 46. in the last 3 years i have had constant pain in my lower back from episods i had when i was younger. the last 3 days my left foot has been cramped and very painful. Thought back to what i might have done to get it like that. $ days ago i put my foot on the tube to cut my toe nails, i must of had it at an angle it didn’t like or pushed to hard. So im learning the more it progresses the less you need to do to to have pain. not good :(

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  3. Carleen

    Linda,
    I noticed you said you check your CPK levels regularly. Is that through the lab or is there some way to check the levels at home? If we had some way to check for high CPK levels without going to the doctor it would lessen our stress levels. We worry alot about my son’s CPK levels going up and not catching it in time. We have been told exercise is good, but at this point anything he does makes us all nervous. He’s worried too and complains alot about pain in his arms and legs, even hands. I just don’t know what to tell him…I resort to my usual answer of “take ibuprofen”, he complains that it doesn’t do any good. At the end of the month we have a consultation with a surgeon that will be doing a muscle biopsy, hopefully we will have some answers then. If it’s not McArdle’s we’ll be back at square one. I don’t want anything to be wrong with him but if it is McArdle’s then at least we would have an answer as to why he feels so bad all the time. It is very frustrating to see your child in pain and not be able to do anything about it. It is also a mind-boggling feeling to hope that it’s McArdle’s and hope it’s not at the same time. My best wishes to all of you.

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  4. Ruth

    @Vikki
    Hi Vikki

    I too have all symtoms except the dark urine. I had a muscle biopsy done in July of 2006 and it determined that I do have McArdle’s. As well, I have the problem of my fingers curling toward my palms when I over exert myself. It takes a couple of hours at least for them to settle down. I recently sprained and fractured my ankle, May15/09, and the doctors said I would be walking just fine within 1 week. It took 2 weeks before I could really put any pressure on my foot and now, after 5 weeks, I am still experiencing a lot of trouble. I am told that because of the McArdle’s, it will take a lot longer for me to heal. SIGH!!!!!!!!! I get my CK level tested every month. It was 497 on May4th and 774 on June 4th. I do hope you get an answer to your sons troubles soon.
    Best wishes to you.

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  5. Carrie

    Hi all! My names Carrie Weaver and I am a 26 year female from New Zealand. I was diagosed with McArdles about 1 year ago now, I have a 5 year old son (Kyle) also. About a week after having Kyle I became very sick very quickly, losing weight fast, in extreme pain and uncontrolable vomiting..I had elevated CK and had protein in my urine. I was referred to a renal specialist who ordered a biopsy and I was diagnosed with Lupus! I have always been an active person.. doing sport all my life and being a personal trainer and pilates instructer for years, I always new something wasnt quite right.. no matter how much i trained i didnt seem to be able to get much stronger or fitter! I started noticing lil things were becoming a mission eg. Blow drying my hair, just going up more than two flights of stairs, yet i was training all the time.. It juts didnt make sense. Even the slightest hill terrrified me! I kept goin back to specialist after specialis, then finally was diagnosed.. It felt great in one way.. knowing I wasnt lazy, and was depressing in another way knowing my career and lifestyle needed to change. Specialist styill claim I have lupus also.. however Im not totaly convinced! Has any1 else been mis diagnosed for lupus? I also suffer at least once a month from crippling head and neck pain (like a migraine) and intense vomiting! Related? anyone know? I have become very out of shape since the diagnose and was wondering if any1 has any tips for the me? Diet? Excersize regime? I just wana get one and live life.. I am currently training to become a nurse, (since i had2 change my career direction) Also anyone from NZ with McArdles.. would love to talk!
    Caz

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  6. mike

    62 years old. Had all the symptoms from an early age. Taken to doctors at various points as a child and told I was lazy. Things came to a head at age 13 when pe teacher used to force me to do extra exercise and slap me around when I failed (those were the days!). Doctor diagnosed ‘missed polio’, an apparently non-existent condition, and recommended physiotherapy. Not correctly diagnosed until I was 34 when my GP, who had trained under McArdle himself, recognised what it was.
    I found this site interesting for the anecdotal stuff about the way we attempt to conceal our ‘weakness’: stopping and pretending to tie shoelaces when walking up hills. Intently reading a book in the same circumstances. I used to stop and ‘admire/inspect’ parked cars and motorbikes for such long periods that I’m surprised I was never arrested.
    Nobody has so far mentioned sex but I can’t be the only man with this condition who envied women their ability to go easy with their lower abdominal muscles if they needed to. How many answers to ‘Why have you stopped?’ can a man be expected to come up with?
    As far as exercise is concerned, I go to the gym and do a reasonable amount of anaerobic stuff. You have to wait for the second wind and you have to build up your reps slowly but the rewards seem to me to be worth it. I’ve also found that it’s possible to ‘beat’ the cramps by stretching the muscle before the cramp sets in, so if you’ve done some sit-ups and you’re expecting your lower abs to ‘pull’ you down, lie on a bed or something and hang your upper body over the side. Obviously, this only works before the cramp starts so you have to be quick. Try the same thing for tightening fingers, push them right back. This can often stop the cramp from setting in.
    Other anecdotal stuff: aren’t old-fashioned tin-openers a killer? Does anyone ever feel confident enough to swim very much out of their depth, even though you know you could probably float if needs be? And the mail about the way that tenseness or fear seems to bring things on much quicker is absolutely right, as I discovered a couple of times when I had to run away from trouble.
    I’m surprised at how many of you seem to have experienced ‘late onset’ (as opposed to just late diagnosis) and I’m appalled at the way some (presumably American) mailers have had to worry about medical insurance when considering diagnosis.
    On a final and more upbeat note, I was worried when I was younger, about the condition worsening with age. No signs of this so far for me and I hope not for anyone else out there.

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  7. Stephen

    I am 29 and was diagnosed with McArdle’s disease in 1998 when I was 18. When I was as young as 8 I remember having trouble running and doing excercises in school. When I was 13 I had to do a physical fitness test which involved doing as many sit ups as possible in 60 seconds. I did 12 but everyone else was doing 50 or 60. I walked around all day unable to stand up straight because of the muscles in my abdomen hurting so bad, but because of years of dr’s and friends and family telling me there was nothing wrong with me or I would grow out of it I thought that I really was just being lazy. I have been in and out of the hospital many times since then for rhabdomyolysis.I’m just glad to finally know that there was something wrong with me all those years and that there are other people with the same disease. Also I was wondering if anyone knew the chances of someone with McArdle’s disease having a child that does not get the disease. Any information would be greatly appreciated.

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  8. Alba

    I am going to translate for Marcelo De Luca, albeit not beautifully…

    He said:

    “hi, I am Marcelo from Buenos Aires, Argentina. I’m sorry not to write English, but mine is limited. It was great to find this page and rekindled the light of hope. I am 41 years old and have 3 children. I have McArdle’s, diagnosed at 15. I try to live a normal life and do a little sports like soccer and volleyball. Until a year ago I did not know anyone with this illness, and since I met many Spaniards and a Venezuelan. Now I find you. The truth is I would have liked none of us to be on this page, but destiny made it so. It must be for something. So, from Argentina I report to connect us, get to know each other, share experiences, and who knows the miracle of a cure for our problem.

    In June there is a conference in Madrid [Spain.] It is important that everyone shares the conclusions of the attendants, that they are realised for the world.

    A big hug.
    I promise to translate this to English and post.”

    Anyway, from me, Alba now…
    I found this page by googling some of my symptoms and test results. In July I am going to a geneticist and the Mayo clinic. My biggest hope is to finally be given an answer there, after years of seeing many doctors and waiting (and many incorrect diagnosises.) There are many similarities for me with McArdles, but obviously I do not yet know a thing. For months my doctors have told me to expect to have a muscle biopsy. So, perhaps I’ll return to this page. (Besides having POTS they all think I have a neuromuscular problem.)

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  9. Ron

    @Stephen
    Stephen,

    I have a 10 month old girl who seems to be healthy and not affected by my disease. I am also 29 and share the same stories as you regarding you past experiences. I know I have asked many doctors if my little girl would have McArdles and for the most part they all feel she will not be affected by it. However, I like you still want more information to see what I can do to make sure. I think it’s going to be a good thing knowing how the disease works and living with it for 29 years to help identify it if she does have it. I can remember from 5th grade on feeling like a weaker individual than my friends and classmates. It can be tough on a young child not knowing it is disease related, and not because of performance. For anyone reading this in their later 40′s or 50′s who can tell me the physical strain they feel now compared to how their friends preform at their age I should would appreciate it. I ask this because I feel a little more physically down each year than I have noticed in years past. I am thinking more walking and exercise may help, but I worry about this because I want to still live as normal of a life as I can to see my girl and future children grow up.

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  10. Ross

    Stephen,
    You will obviously be a carrier for the gene but your partner/wife must be a carrier also before your child can have it. Then the child only has a 50/50 chance of developing McArdles. I have a 14 month old and have no worries about him growing up although he will be a carrier himself. I have the disease but my brother who is 6 years older shows no signs. Hope this helps.

    Reply
  11. mike

    @Stephen
    I’m no geneticist but the if it’s a 1 in 100,000 people condition and both parents need to have the gene then it must be a pretty remote chance that your kids will have it. I have 2 grown up daughters and they have no symptoms. Possibly not a good idea, if you’re an unattached McArdles sufferer of marriageable age, to base your social life around the people you meet on this site though!
    As far as the effects of age are concerned, at 62 I’ve noticed none really. If you can do it, exercise is very important and seems to produce results particularly quickly in terms of being able to build up the distance you can walk or the number of reps of anaerobic exercises. Failure to maintain regular exercise after you’ve reached a certain level seems to produce an equivalent decline however. Obviously it’s important to avoid the ‘burn’ though so that you don’t damage muscle tissue.

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  12. Nancy

    @mike

    I come from a family with eight children, four boys and four girls. We are all in our fifties. ALL FOUR of my brothers have been confirmed to have McArdle’s, although the severity varies. Two of my sisters are at least carriers. I absolutely do not believe that this is as rare as they say… I think instead it is widely misdiagnosed.

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  13. Beth

    I’m 55 yrs old and have suffered with muscle cramping in my shoulders, hips and back since I was a teenager. Heavy lifting or strenuous activity bring them on. I have fainted from the pain numerous times. I notice mild muscle trembling with moderate exercise. I plan to talk with my physician about this, but am wondering if anyone else has symptoms such as these and have been diagnosed with McArdles.

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  14. Ruben

    I am a 58 year old male. I was diagnosed with McArdles at 45 years old. I was experiencing fatigue, leg and body cramps and could not keep up with the exercise. I also have high cholesterol and was given lipitor (statin drug), and the statins make your situation worse. Do not take statins. I take mobic which helps with all of the muscular pains. Do not use heavy weights because you will get sick. Walking is good for you and I walk 3 miles every day. Persons with McArdles are also susceptible to getting uric acid stones (gout) and I now take Uricit K to take care of that problem. Take a multiple vitamin with minerals every day. Also stress aggravates your situation.

    I now have a mild case of diabetes that is under control. Eat a lot fruits and vegetables. Stay away from white bread and look for multigrain breads. You can eat beans, chicken, and fish. Keeping a balance with this disease is difficult but you can do it. Other than that, good luck to all of you.

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  15. Mark

    @mike
    Mike (and all others); I can relate to all of your experiences. I am now 57 years old, but was diagnosed in 1973 here in Colorado.

    Thanks for the earlier post mentioning insurance; I can never leave a job nor allow insurance to lapse as even a minor episode of cramping and excess protein in the bloodstream causing kidney issues would cause bankruptcy within a few months due to our ridiculous “health care” system in the US>

    My experience has been the same as yours in that there seems to not really be any progressive loss of muscle strength.

    I was able to build our house (not be the contractor, but actually, physically build it.

    We also go on long bike tours (50 miles or so per day), but all work and exercise must be at a low intensity to avoid damage. I’ve added muscle mass a strength through regularly doing fairly heavy work but not pushing myself past the very beginning of muscle cramping.

    I’d like to encourage all of the younger folks that this is not a life threatening issue, nor will your life be anything other than what is considered normal if you are careful to not exert skeletal muscles past the point of doing damage.

    Tongue in cheek, I could advise anyone with overly macho hiking or biking companions to start hanging out with sedentary overweight folks. That way, you can help them get moving and not always be the slowest! For all of you in healthier parts of the world, we have quite an abundance of those folks here in the U.S.

    Genetically, McArdles is due to an autosomal recessive trait, and is therefore very rare. In my family, the occurrence is classic; I and one brother have McArdles Disease, the other two do not.

    Sorry to ramble! Hope this helps someone.

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  16. Kellie

    Just wanting to know does anyone suffering from Mcardles disease have back posture/hunch back??

    Also if your partner has Mcardles (male) and you (female) dont is it inherited???

    Reply
  17. Yasmin Wahid

    Hi my name is Yasmin. I am 52, from South Africa of Indian descent now living in California. Ihad a problem since childhood but was always considered lazy. I could not do PE in school tired very easily muscles would cramp fingers would lock arms and thighs would swell up lots of muscle spasms muscles would lock and always experienced 2nd wind phenomenon. then I visited the rheumatologist and after 18 months of testing he decided to do a biopsy. results were that I have McArdells disease. I also have osteoarthritis of the hip and low back.Am also suffering from depression for the last seven years, worse now after I suddenly lost my beloved husband of 31 years in December 2007. This site has been very helpful to me, knowing i am not alone. I would also like to know if anybody applied and qualified for disability due to this condition. I am unable to work and am totally dependent on my 2 young sons one of whom is married. Thank you. Somebody please reply.

    Reply
  18. Austin

    I have a friend who was diagnosed with McArdle’s Disease at the age of about 14. He was working out one night at the gym, went home, fell a sleep and the next day he was in excruciating pain and couldn’t move. He spent the next couple of years in and out of the hospital (mostly in) and was treated with a myraid of different drugs including morphine and ketamine which would work in easing his pain but left him unable to think clearly and was prone to hallucination. He couldn’t attend school he spent months in New York under the care of a specialist who put him on a program that had positive effects but were only temporary. After years of treatment after treatment finally it was suggested to his parents to try putting him on medicinal marijuana. They were extremely reluctant, being totally against it, but eventually out of desperation they gave it a shot. After starting his medicinal marijuana treatment, he went from literally living in the hospital for more than two years straight, to being able to live at home and graduate from highschool with little more than a handful of attacks that caused him to be hospitalized, in which he was not there for more than a day. I know that this treatment is not for everyone and that it goes against the ideals of some, but it’s something to look into.

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  19. Amanda

    I am 21, from the UK and a month ago I was FINALLY diagnosed with McArdle’s.

    I have been mocked, bullied and pushed to do more than I was capable of my whole life. I have suffered daily pain in simple household tasks that to a certain extent has improved with age. I can’t walk to the shops without shopping. I can only climb so many stairs. I was called lazy, and unfit. Part of me worried that they were right, and so I didn’t always say.

    Even though I am better than I was and exercise more, I find this to be a mixed blessing. People often don’t realise that I have any problems and treat me differently once I explain. Also, when I do injure myself now it is often a lot more severely and appears inexplicable to people who don’t know.

    I’m working on improving my situation, and I now have a trainer at the gym. We’re working now to give me strength in my muscles that will support me as I age. I’m scared but I try t stay positive.

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  20. Terra

    My fiance was diagnosed with McArdle’s this February after going into rabdho from a seizure. He had another Seizure this past week. He’s been put on anti-seizure medication but we are unsure what is causing them. All of his MRI’s and EEG’s have come back normal. Has anyone heard of seizures being linked to McArdle’s? And is there any way to prevent them? It’s one of the scariest things I’ve ever seen. I really want to see if there is anything we can do to prevent it from happening again, especiall now that we have a baby on the way. Any insight would be greatly appreciated.

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  21. Jim

    After finding this web page I felt so isolated now I can see that im not alone my story is like everyone else.I am a 48y old Male and was diagnosed at 45. It destroyed my career as a Construction Electrician My hardest thing for me is accepting that i have this Disease Im very independent and always did things by myself but now I find that I have to ask for help doing the hard work and other chores. I find this to be very emberising for me
    but Im slowley learning that I have to accept it.

    Reply
  22. Dennis

    Hello!

    I’m also a McArdle’s “sufferer” and was diagnosed at 16. I’m now 38. And like many here, i was ridiculed as being “too lazy” or the ever popular “you’re just having growing pains” LOL. Riiiight. I’ve had issues ever since I could remember and the pain was always excrutiating. It wasn’t until i had the Rhabdo episodes when i was 15 or so that people (even my parents) took me seriously. My CPK shot up to almost 200,000 at one point. Now at 38, i am doing well and eat regularly and really need to do some exercise :). I have learned to pick up on cues that my body gives me that “enough” is “enough”. I told my wife while we were dating of my issue to either scare her away or see if she would stick around. She stuck around and is the most fantastic woman of all time! We have a wonderful child together. I have learned that everyone has “something”… for us it’s McArdle’s, right? We can’t change it, but we can learn to not feel limited all the time. We just need to know the rules and then live within those rules. For example, i know i can’t be an athelete and expect to be pain free, so for my job, i have a desk job as a Marketing Manager and am doing very well. Very little physical activity. At home, I am an avid home-repair-improvement home-owner. However, i just do it an hour or so per day until the task is done. Just learn to space things out and be fine. If the people around you don’t “like” you because you can’t keep up, then they’re not good friends to have.

    By the way, there’s a conference in Denver on 09/11-09/13 at http://www.gotcornstarch.com. It’s late for the registration but i encourage all GSD folks to go if they can. It pertains to all GSD types, not just McArdle’s.

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  23. Stacey Reason

    Just to share with everyone – the AGSD Conference is being held Sept 11 & 12 in Denver Colorado.

    It is going to be a unique opportunity – having 3 of the world’s top three McArdle doctors there – Ronald Haller (US), Ros Quinlivan (UK) and John Vissing (The Netherlands). Apart from hearing from them, we have a chance to influence their drafting of a care guideline for Type V.

    There are about a dozen McArdles pts going thus far – it will be a wonderful opportunity to meet others and share information.

    You still have time to book – http://www.gotcornstarch.com

    Reply
  24. Terra

    I thought I already posted, but I must not’ve hit comment. My fiance, Justin, is 25 and was diagnosed with McArdles back in February of this year after going into rabdho from having a seizure, sending his CPK above 100,000. He had a another seizure last week, again, sending him into rabdho and his CPK up over 200,000. The doctors have done MRI’s EEG’s and all kinds of tests to figure out why he is having the seizures, but all of his tests have come back normal. I was wondering if anyone has any information on seizures being related to McArdles and what (if anything) can be done to prevent them. I have searched online, but haven’t found anything about McArdles causing seizures. But of course since nothing else fits, that is the reason doctors are giving us for them and just upped his meds to prevent them. Any info would be GREATLY appreciated!

    Also, to everyone who’s posted with McArdles, my heart goes out to you. Justin always says “I just want to be normal.” and it hurts me that he feels so different. I can’t imagine how frustrating this can be.

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  25. Dillon G

    I am 22 and I am a avid runner since 7th grade, I have had problems with discolored urine after my runs since 9th grade, especially long runs. I also have problems with fatigue and muscle soreness. I have never had some of the severe problems like some on here but has anybody else experienced a constant occurrence of rusty colored urine after exercise?

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  26. David

    Before yesterday, I had never heard of McArdle’s. Yesterday a specialist saw me, listened to me, looked at my lab work, etc., and told me there was a good chance I had something called McArdle’s disease.
    He wants me to go get more lab work in 2 weeks, and see a sports/muscle specialist. Then, if he doesn’t like what he sees, he will do something called an EMG test. Finally, if he is still not happy with the results, he will send me to have a muscle biopsy.

    Anyway, here is my story:
    I am a 36 year old male who teaches elementary school physical education. I live in Connecticut, not too far from New York City. Growing up, I played all types of sports. Almost all the men in my family were very good athletes. I really don’t remember having any physical problems from exercise….except maybe cramping in my calves and the “fallen arch” thing after playing basketball in 7th ot 8th grade. I lived a very normal, active, and pain-free life.
    Until the summer of 2005….at age 32….that’s when it hit me….

    It was a sweltering hot summer day four years ago, and I had just finished pitching two softball games. That’s what I do for fun…I pitch…and at a very competitive level (tournaments, etc.) Even though it us underhand, I play with/against very good teams, and it can be tiring and stressful. However, I didn’t know that at the time…but I found out when I got home that night.
    When I got home that summer night in ’05 I was sweating like crazy….I took a cold shower, but it didn’t take. I continued to sweat for a few more minutes after I got out of the shower and into the air conditioned family room. I knew something was wrong…and then IT started.
    All of us a sudden I get the worst cramps/spasms (whatever you want to call them) in my quads. Then they moved to my calves. Then theyr moved to my stomach. Then my hands. Then my feet. I have never been shot by a sniper before, but that is what I imagine it would feel like. I tried to stretch throgh it….it didn’t help. Then I tried just to lay down on the floor…it didn’t help. I had never felt so helpless and I couldn’t imagine a pain worse than what I was feeling.
    I reached for the phone and dialed 911. The ambulance came and too me to the ER in the hospital. I was admitted and stayed 3 days in the hospital. They pumped IV after IV into my arm. The diagnosis? DEHYDRATON.
    Two years later, in the summer of 2007, it happened for the 2nd time. My co-ed softball team had just won the state championship on a hot and humid Saturday in August. I pitched all four games. I was also running around the bases like crazy that afternoon…getting hit after hit…running hard from home to second, first base to third base, second base to home plate, etc. I was on fire….I guess in more ways than one.
    Shortly after the games had concluded that day, we hung out by the field to enjoy our hard work with some laughs. However, I would not be laughing 10 minutes later…far from it! I felt the same feelings coming on I had 2 years prior. I left the field and took a painful ride home…a 10 minute drive. I didn’t want to cause a panic at the field, so I got in my car..knowing full well that IT was happening again.
    When I got home, the pain was unbearable. It waa actually worse than the first time…as now I ws getting pain in muscles that I never knew existed! Cramps in my face!
    Again, I reached for that phone, and, again, I was taken to the ER. This time they did not admit me. I was home in 6 hours…after they pumped some fluids into me. I remember the doctor in the ER telling me that cannot afford to have another heat related injury. He said that I need to load up on water before and during games. He said my CK levels were too high. I had never heard of a CK level and I don’t remember what the numer was. Luckily, like the first time, I did not have any serious kidney failure. For the 2nd time in 3 summers….I had been hospitalized and diagnosed with DEHYDRATION.
    I vowed never to let this happen to me again. For the next two years, I hydrated myself very well.
    However, it happened again last month. For the third time…I was hospitalized as the cramps/spasms came over my whole body.
    Where and how did it happen? You guessed it….I had just pitched 3 consecutive softball games in the state sectionals. No break between games. Same field.
    Things were confusing this time, however. I HAD been hydrating myself….before and during the games. I had about 80 ounces of water in me over a 5 hour span. However, I had no electrolytes in me….perhaps Gatorade would be better?
    Anyway, after our third game, we finally had a 3 hour break before the champonship game. As I was drinking my water and eating a healthy lunch and fruit before the championship game, it began to happen. In front of everyone. Awful muscle cramps in my quads, then, my sides, them my calves, then my fingers, them my toes. You get the idea. A friend called 911 and the ambulance came and and treated me in front of everyone. teammates and opponents thought it was funny…as they snapped pictures of me laying there in agaony for their facebook amusement.
    The cramping got worse in the ambulance and even worse in the ER. The first doctor who saw me said the same thing as the other two doctors. DEHYDRATION! But I wasn’t completely buying it this time. Not after I had taken the extra precautions by drinking all that water. I knew there was something else wrong with me. There had to be. I was in decent shape…and for the third time in 5 summers I end up sweating through my shirt like I had just been in a war in the desert and i was experiencing those terrible cramps.
    Well, the doctor in the ER who said I only had deydration left…I think his shift was over. A new doctor came along and, while they pumped sodium bicarbonate in one arm and an IV in the other arm, asked me an interesting question. He said “David, I see that you told the nurse that you are on cholestorol medicine for about 5 years. Did you know that those statins in the medications can cause serious muscle damage and breakdown?”
    I was shocked. In fairness to my GP, I was not getting my blood work done as often as he wanted me to get it done. I didn’t know statins could be bad! That said, I was admitted to the hospital (again, this is just 6 weeks ago). That nice doctor told me that I had something called rhabdo. My CK levels when I first arrived at the hospital were 2,000. He said that I would be staying here a while. The cramping last about 3 hours.
    They did blood work on me every 6 hours, and the doctor did not like the way my CK level were trending. Even with the IV, they were not coming down fast enough for his liking. I run my own summer sports camp, and I already had someone cover for me on Monday. By my third night in the hospital, by CK levels were down to 630. He said I can be released if I wanted to, but he made me promise him that I would follow up with GP later in the week, and that I would STOP taking cholestorol medicine. (By the way…I didn’t even need to be on the statins, as the doctor in the hospital informed me that my cholestorol was only 105…fown from 280 a few years ago.) Again, it was my fault for not getting the blood work done.
    Anyway, I go and see my GP and he has me do the blood work. His office calls me the following week and says that my CK levels are now NORMAL. YES! He wants me to get another CK level test in 3 weeks.
    So, I get the blood work done last week. I get a call from his office last week and they say that my CK levels are 1,710. I couldn’t belive it. I had stopped the statins, slowed down my softball playing (pitching is a lot more demading than standing in right field!), and drank plenty of electrolytes before I preformed any type of exercise.
    I asked the nurse on the phone “What does this mean? Do I need to stop playing/exercising (light bike work at the gym, light weights) right now?” She called me back and said the doctor would like you to see aother doctor in this office who specializes in things like this. She told me not to exercise or play in the meantime and to come in Friday (yesterday) to see this specialist.
    That’s when I heard the term McArdle’s for the first time. I drove home, googled it, and came to this fantastic website!
    Anyway, sorry for rambling.
    Does anybody have any suggestions for me? Comments? Ideas? Thoughts? If I was reading this about somebody else I would shout “STOP PITCHING ALL THOSE SOFTBALL GAMES IN THE SUMMER!” LOL. Those are the only 3 times that I was in agony. There IS a common denominator!
    It is not confirmed that I have McCardle’s yet. He said I can do light exercise in the meantime.
    Thank you for reading and i wish everybody the best.
    -David

    Reply
  27. David

    Also, my doctor wants m to take Creatine…5-10 mg a day. I cannot find it anywhere. I went to the GNC and the Vitamin Shoppe, and all they have is Creatine in HUGE doses(like for bodybuilders). I told my doctor that, and he was a lso a bit confused. He asked me to ask some of you on websites like this…where do you get your Creatime from, what is the bran nme, and how much do you take? Where do you get the 5-10 mg of Creatine Kinase each day?
    Thanks.

    Reply
  28. Glen

    David. My Opinion and suggestion is: Insist on going strait to genetic testing instead of the muscle biopsy. Its a waste of time and MASIVELY PAINFULL. If the muscle biopsy indicates McArdles, they’ll make you get genetic testing to confirm anyway. If I’d have known what I know now, I’d have made them bypass all the tests that “suggests” McArdles and made them go strait to the painless and DIFINATIVE genetic testing.

    Reply
  29. Dick Bridgewater

    I was diagnosed with “Paroxismal Paralytic Myoglobinuria” in 1957 when I was 24 years old. I am now 76. I wonder if I was misdiagnosed and in actuality have Mcardle’s Disease? The symtoms are nearly identical to most Mcaraadles sufferors.Swollen,painful muscles after exertion , Coke ored urine. Three to four day recovery period. The malady can involve any volentary muscle, even chewing food. Unable to enjoy sex in the missionary position. Unable to perform even the simplest tasks. The oldest I saw to reply was Mike who at 62 has noticed no effects of age and I had learned to keek the condition benigh. I was able to walk and after an initial fatigue, would recover and could cover several miles. I don’t want to frighten him as I may not have Mcardle’s but at 62 I had not noticed a worsening of the condition. However, as I have gotten older I have become more and more imobile. I have dificulty walking from room to room in my home, I could not think of shopping at any store that does not provide electric carts. I grew up on a farm handling hay bales and sacks of feed and seed with no problem. I later worked in construction and had little trouble till approximateled age 23. I was in the USAF then and on my first sick call, was told I had a “Charley Horse” and to work it out. Anyone who has experienced the pain and swelling knows it can’t be “worked out”. I was accused of being a “malingerer” , sent to the hospital to prove it, and could have hugged my Dr. when he agreed that I did indead have a medical problem after putting me through some very painfull exercises including “Deep Knee Bends”.The pain and paralysis was nearly instant and my urine trned a very dark color. I had a muscle biopsy but I wonder if the Dr.s in those days knew to test for Mcardle’s. The Dr. who made the diagnosis is now dead and most Dr.s I talk to give me a blank stare when I mntion my prior diagnosis. I would like to hear from others who have reached my age to see what their physical condition is and did it deteriorate from mid 60′s on?

    Reply
  30. Dick Bridgewater

    I miss my spell chek program. I hope I was clear on my original submision. I had never heard of Mcardle’s Disease til yesterday, Aug. 30 when there was an article in our local paper by Dr. Gott.

    Reply
  31. Ruth McKellar

    ask to be referred to a neurologist and a geneticist a.s.a.p….they will find out for you what it is….a few tests may need to be done, but if it is McArdle’s Disease, they will find it
    hope all goes well for you

    Reply
  32. Ruth McKellar

    David…I agree with Glen. I too had a muscle biopsy and then had to go see a geneticist. Now I am and have been since fall of 2006, undergoing genetic testing. They have isolated the one gene and are still working on finding the second one. I got McArdle’s Disease from my parents. Both of them have a recessive gene that caused me, #1 out of 5 kids, to get this disease. I am 51 yrs old and had a fall in 2006, which ended up putting me in the hospital for 8 days. My CK level, at that time, was 40,000. So get referred to a geneticist. :)

    P.S….my previous post was a reply to Carla B.

    Reply
  33. Ross

    David…….. I am not suggesting to go against doctors orders but in my experience the creatine never helped me and I found it rather yucky after a month of it but I have found that l carnatine and l alanine amino acids have helped me more than anything so far along with walking and light exercise each day when possible. The l carnatine I buy in pill form at Wal Mart and the l alanine I buy at GNC “Beta Alanine” is the brand. The doctor can also prescribe a pharmacy grade alanine. As always discuss this with your doctor and get the genetic test. Duke University Medical found it in my genetic test and I did not have to get the biopsy. It is not always strenuous exercise that brings on the cramping for me. The last attack I had in my forearm was from driving in a (1) tomato stake with a 4 lb hammer. 3 days of pain that vicodin would not help.

    Reply
  34. David

    I appreciate everybody’s advise while I struggle with this pain I have. I have my EMG a week from today.
    Ross….I noticed how you mentioned you had forearm pain. Is the forearm a common place to experience pain with McArdle’s? I ask this because by right forearm has been hurting really bad for the past 10 days! I am going to the ortropedic Wednesday, because the pain is centered around the part of my arm that I severely broke 12 years ago….and I have been living with a metal bar in my arm for the pasy 12 years. It began bothering me a little 2 years ago, and I went to the orthropedic who did my surgey 10 years prior. He told me that this was commom…and that maybe the metal bar had run its course and it was time to remove it. As I said, I will be going to that same orthropedic who did my arm surgery 12 years prior, and ask what he thinks about the pain and the metal bar coming out. However, after seeing that Ross (and I think a few others) had forearm problems and pain due to McArdell’s, I am wondering if the pain no has nothing to do with my surgery and the metal bar? Maybe it is McCardel’s? The pain i only in the right arm….where my surgery was done. Not me left arm…yet..I hope!
    Isn’t there a forearm test for McArdle’s? Why the forearm test? Is that because the pain is most common in that area?
    Thanks,
    Dave

    Reply
  35. Bill Nelson

    Hi people,
    I don’t know if I have McArdle’s disease or not. But if I do have it or any other disease for that matter, I don’t want to know about it. I have always felt that any negative label you stick yourself with will destroy your will to live normally and do the best you can with whatever it is. But I do have symptoms of what people describe here though not to the point of death as many of you seem to have come to. But I have to say that I often feel very bad and it probably would not take much more to get to that point.

    I stumbled across this website when a nurse I know told me to research glycogen depletion when I described the symptoms I get from running. I eagerly read every single post here. And I wrote this post to share my experiences with you hoping that it might shed some light as you all have shed some light for me and together as a group we might come up with an answer to this mystery.

    I have always been athletic from a very young age at a high competitive level but I knew and the coaches knew that there was something very unusual about me. I ran track but could never train with the track team. Every time I would train with them I would break down and suffer what I found out many years later was severe glycogen depletion. This happened even when I purposely ran trained at a slower pace then everyone on the team. The symptoms were, as you probably all know, that your muscles would not function properly. That you feel lead in your legs like you can hardly walk. However, by jogging, I did not suffer such severe glycogen depletion like I did when training with the track team. And I was skinny so I raced well though it would always take me a week to recover from a race. None of my other teammates ever felt bad for more than a day or two after a race. The stupid coaches I had didn’t even know there was such a thing as glycogen depletion and would call what I had lactic acid. Lactic acid, my ass. I am still mad as hell about their stupidity to this day. That’s because if I had known about this then, I could have dealt with it much better. And the coaches were older, wiser, college educated and should have known.

    Anyway, the only way I survived staying on the track team was to jog gently for my training so that I would not suffer the severe glycogen depletion of training with the team.

    Over the years, these symptoms have become worse. Now I can get very depleted just by jogging and very often two hours after I complete an hour of jogging, I get severe locking leg cramps, which if you have had them you know is not much fun since it is so hard to get unlocked. It’s painful and scary. If your heart would lock like that, you’d absolutely be dead. And who knows, maybe some people do die like that. In the last two years, I have also had severe lower back problems to the point where I couldn’t even walk and though I didn’t think it had to do with glycogen depletion, I now think it does because I seem to be more susceptible to it when I am more depleted. Muscles all over my body are stiffer and bad things happen.

    But the thing is that if I don’t do up to an 1 hour of jogging per day, everything gets worse for me in every way — no energy, severe food craving, feeling weak and miserable. At least the jogging limbers you up, gives you more energy and makes you feel better then if you did nothing at all. That’s not to mention maintaining body weight which gets harder and harder to do as the years pass on.

    I don’t go to hospitals because to me they are a waste of time and especially money and I can’t afford it to begin with. The last time I went to a hospital, I had a bitter argument with a doctor who told me to take Tylenol to reduce inflammation. I don’t need to go to a hospital and pay a huge medical bill just to have a stupid doctor tell me to take Tylenol. He got angry and I got even angrier.

    Right after that visit, I did however take a free blood test at a trailer the Red Cross had set up. They told me that I had the lowest blood sugar they had ever seen and if I was fasting. This was two and a half hours after I had lunch where I ate a tuna sandwich, can of coke and 8 chocolate chip cookies, glass of milk and a banana. They told me that I should get some further testing done. But with no medical insurance, I’m not interested. I still have no idea what low blood sugar means.

    Making the track team years earlier, which by the way wasn’t that easy to do, and always trying to get my body to be at my best for race day, which I now realize meant having high enough glycogen to race well, has made me extremely aware of this element which I think other athletes, normal people and people who have McArdles may not be – that is always being aware of your glycogen levels, knowing what depletes them and learning what can restore them.

    Before I even knew about glycogen, I was just going by monitoring my body and seeing what would make me feel better each day like after a races when I would be badly depleted. I knew that as I felt better each subsequent day, I would then race better. I didn’t know it then, but that was all about glycogen. And I seriously and truly believe that this is a great and significant factor in all of sports, whether it is soccer, swimming, baseball, football, basketball and even golf. Knowing how to build and maintain glycogen levels for athletic performance is a significant factor that can’t be denied. You can have a super physical performance one day and two days later have the worst performance in your life because your glycogen levels are too low. It’s all about glycogen. And it can clearly explain why so many athletes and teams are so inconsistent and have bad days. I think it even happens in golf where some players go from one extreme to the other in their regular 4 day tournaments. If you are feeling miserable and depleted after the first or second day of the tournament from playing 5 or 6 hours of golf subsequent days, you are going to be much more liable to play poorly. I don’t think anyone really understands how significant glycogen is in sports and even academics where if you are feeling bad, you may not be able to study or think as well as when you are feeling good. Body does affect mind.

    I also find it interesting how many people here have said that warm weather seems to make them feel better. I have observed the same thing. But I have a theory about that that might have something to do with water loss on hot days in that the whole cycle of losing more fluids on hot days and then drinking and replacing fluids helps restore your glycogen levels. I don’t have access to a sauna or steam room but perhaps someone here who does could regularly do the sauna or steam room during the winter months and report back here to see if this helps and my theory might holds water so to speak.

    So here is a list of what I think people with McArdle’s should be aware of.

    1. Any hard or severe physical activity will result in glycogen depletion no matter how great a shape you are in. Expect it. You can’t avoid getting depleted all the time. It’s a fact of life. I think everyone gets depleted to different degrees sooner or later but McArdle’s people’s reactions may be 10 to 100 times more severe.

    2. You should be able to feel and know when you are depleted. When that happens you should be especially careful not to do anything physically hard because at that point your muscles won’t function properly so you will be very susceptible to injury like tearing muscles or possibly like I have tripped and broke my arm because I couldn’t pick up my legs properly. Sometimes people’s wills are stronger then their bodies and they try to push themselves even though they are feeling bad. That is very very dangerous.

    3. Be consistent in your physical activities. Inconsistency will result in greater glycogen depletion. Laying around the house for two or three days doing nothing and then do some strenuous chores or some creational activity will surely lead to bad glycogen depletion you didn’t expect.

    4. If you are involved in sports like the guy who wrote about his softball tournaments or any other sports for that matter, it is a very bad to deplete yourself a day or two before your competition. To come into competition with low or no glycogen will result in nothing but a nightmare in your performance with a good chance of injury. There should be no severe last minute training.

    5. Your glycogen levels in life will always be cyclical. You can’t always avoid glycogen depletion so you have to work on restoring glycogen levels? Basically I have discovered that rest is not enough. I have discovered that glycogen restoration happens much faster when there is light physical activity. I think of it in a kind of metaphorically way like a sponge. Light squeezing of the sponge in water fills it back up where as no squeezing makes it take much longer to fill. Just as severe squeezing of the sponge makes it take longer to fill back up.

    Finally, I would be very interested in knowing if any of the supplements people take can make a difference in restoring or maintaining glycogen levels. But I have a feeling that it doesn’t. It’s just that people might associate a natural recovery they would have had anyway with the supplements they are taking at the time they are recovering. But if there is some drug that would keep us from suffering such severe depletions I would surely love to know about it.

    I hope this post helps.

    Reply
  36. robert

    Hi everyone,
    I was reading with interest Dave’s and Ross’s comments in particular, but as many as I can. I too use beta-alanine and glutamine, and BCAA’s
    and arginine. Anyway, I also had what I call an *imploding* forearm.
    I was having terrible pain in my forearm doing my job, which isn’t doing that heavy a workload, and one day my left forearm develeped within hours, a lump, fluid in it, and redhot skin. It is still now 3 years later, painful and use brings on pain. I had a needle in my shoulder, pain can come there also. I initially got horrific cramps in the calves that led to Neurologists. The CK was elevated, always is.
    I just recently discovered with light weights for even ten minutes, my
    CK goes up at least 3 times as high, maybe higher. I had a muscle biopsy but it was on my thigh and I usually have little problem there.
    I have more problems in calves, biceps, and forearms and shoulders. I get cramps sometimes in my feet. I have lots of fatigue, and while that has improved some, it’s still not great. I have been able to get off pain meds mostly, but sometimes it’s bad enough I have to use morphine at a low dose/tablet form or I cannot work. I did test for acid maltsse, and it’s low but not low enough for a dx of type 2 GSD.
    I seem to be more like McArdles but could be something entirely different. Nobody has done a forearm test yet, I don’t know why. I have read that late-onset McArdles can have negative biopsy, negative forearm lactic acid and or ammonia, and lots of confouding findings yet
    still the person can have McArdles. It is alot to try and sort out and
    figure out, and it’s really a drain on my mental well being, and my quality of life is not the worst, but not great, as I cannot do many things because it brings on injury or pain. I am also afraid if I do
    anything involving weights or heavy objects, I could be damaging myself.
    I moved myself last year, and actually had one bout of blood in the urine, brown urine then some red the next morning on clothing. Nothing since, but that was a time of lots of heavy exercise for two weeks straight, I had to use 8 percocent a day and codeine to get the job done. I had no help. Any thoughts appreciated, I realize you can’t get a dx or prospective dx but it’s good to get feedback.
    Robert.

    Reply
  37. Brian Carter

    Hi,I’m 59 and from the U.K.I was diagnosed with Macardles in 2006 after 2years of blood and ECG tests gave no definitive answers the biopsy test confirmed what my Rheumatologist had suspected.I have found this very hard to understand as I was always active in my youth playing Rugby Union until I was well into my thirties, and my daytime job being a Milkman walking nearly 10 miles per day and bending down to deliver/pick up milk bottles 400 times per day.As i got into my fifties however the punishment on my body through 20 years of Rugby and 30 years of delivering milk in all weathers (usually rain here in Manchester) started to take its toll and I developed both Rheumatoid and OsteoArthritis.This I could live with as it is able to be kept at a reasonably low pain threshold with drugs. But when I started to get body cramps after very little exercise this confused me.And as I say my Rheumatologist confirmed I had Macardles, I started to look online for more information and found this website. It’s nice to know you’re not alone, especially when your specialist says it’s only 1 in 50,000 that get it,we must all have computers then judging by the number of posts.I find like others that if I stick to a fish/chicken/pasta diet with plenty of fresh fruit and veg and no red meat it seems to alleviate the symptoms, and the weather does definitely have an effect, as when it’s cold and damp I suffer more, but last year on holiday in Florida I felt 20 years younger.Anyway I know it’s a cliche but don’t let it get you down. Brian.

    Reply
  38. Ross

    David, it is common but not limited to the forearm. I have gotten very tired in my jaw chewing easy foods. It can be in any muscle. I get it the most common in my neck when I am turned around looking back in my truck as I back up. The best way to tell is if your are in fairly good shape and your legs feel like they are on fire after two flights of stairs. Many people report that steps and inclines are the hardest exercise for people with McArdles.

    Robert, I am not sure exactly what you mean by imploding forearm but I have had compartment syndrome in my lower leg that led to necrosis or dead tissue in one of the muscles. The surgeons had to remove 80 percent of that muscle. I can still walk but the foot droops.

    Reply
  39. Ross

    Also David.. The test is just usually done in the forearm I think for ease of the test only. They just need to get a tissue sample of the muscle. I think the forearm is the most common area for the test to be performed. Remember please do not take all that I post for fact it is just in my experiences with the disease but I hope it helps. They are many genetic diseases of the muscle the only way to know is to be tested. God Bless!

    Reply
  40. David

    Thanks Ross…
    Well, I went to the orthopedic yesterday and he did an x-ray on my right forearm that was broken 12 years ago. The x-rays were fine, and the hardware i going to stay in. I have had no pain for 3 days now in the right forearm. I explained what McArdle’s was to him, and he thinks that may be what is causing the pain (like cramping) in my arms.
    Anyway, EMG on Saturday. I might also try to make an appointment with Dr. Slonim in NYC….since I live so close. I wonder if he would see me.

    Reply
  41. Kim

    @Stephanie
    I went through two perfectly normal pregnancies with McArdles disease. There is a very good theory now that the mother’s also benefit from their babies because they are receiving the myophosphorylase that the babies make. We receive it from them via the umbilical cord just like they receive their nutrients from us the same way. I must say that I felt more like a normal person than I ever had in my life when I was pregnant.

    Reply
  42. David

    Just had my EMG test…and it came back normal. Nice doctor there told me that he thinks I have early onset McArdle’s. What’s next for me? Muscle biopsy?

    Reply
  43. Lucy

    David
    I had my muscle biopsy done in 1973 that is when I was Diagnosed with it. The Dr that did my biopsy knew of Dr Slonim and helped me to schedule an appoinment with him I went to him for over 10 yrs, he is a wonderful Dr. I had a lot of great progress with him. He tought me alot about the disease and how to control the swelling and cramping. I can now live pretty much a normal life. I wish you the best of luck.

    Reply
  44. David

    I am taking 5 grams on Creatine Monohydrate twice daily. One doctor told me five MILLIGRAMS….but that can’t be right? The other doctor told me 5 GRAMS. That’s what I’m doing. One teaspoon…5 grams.

    Reply
  45. Bill Nelson

    Stephanie,

    That is very interesting. It also supports much research I have done on symbiotic connections for curing patients for many types of illnesses. Hook up a healthy mouse to a cancerous mouse and the tumors on the cancerous mouse disappear. McArdles could be cured in the same manner but this is a treatment that may take many years, if ever, for our medical community to accept.

    Reply
  46. jd

    @Alex
    i was diagnosed with mcardles at the age of 13 im 23 now im learned to deal with it i was oakland children’s hospital for 3 weeks
    the doctors were dumfounded.

    Reply
  47. Jim Ottesen

    Hi, Mac Folks,
    I’ve been away for awhile dealing with issues which I suspect many of
    us experience if we have Mac. Specifically, do many of you experience
    Restless Leg Syndrom or Sleep Apnea? I just found out I have both which
    just adds other issues to the challenge of Mac. I mention this out of my curiosity about the disease. I continue to believe that vitamins
    (especially B6 and the other B’s, a great multiple and a good greens formulation), modest exercise (within your capabilities) and a strong
    belief in your own resources will carry the day. Most doctors just
    kind of leave us to our own solutions so we must help each other,
    read all we can, drink enough water, watch your sugar and salt and
    keep an eye on your CPK – that’s our best warning light. Avoid any
    unusual muscle stress that lasts over 5 seconds – whether pulling weeds
    or lifting weights – the results can hurt in many ways. Get help or
    just say NO. I’ve torn too many muscles and broken into the thousands
    on my CPK because ” a man should be able to do “these things.” Mac
    says only if you’re willing to pay. Take care. Jim

    Reply

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