Whew! McArdlesDisease.org is FINALLY Online.

Sorry it took so long!  There are already a few great websites out there, but since so little is known about the disease, pretty much any time someone new hops onto the scene with some info, we all learn something new.  At least I hope it is this way, and certainly continues to be.

I’ll post as often as I can.  Feel free to chime in.

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22 thoughts on “Whew! McArdlesDisease.org is FINALLY Online.

  1. Barbara Bachowski

    Hi,
    I am a 59 year old woman who was diagnosed with McArdles when I was 26 years old. I had all the symtoms, as a child. They could not find a reason for my muscle problems, in the 1950′s. I worked as a Registered Radiology Technologist for 37 years. I knew my limitations, but I was able to work in the field I loved. Two years ago my symtoms increased and I was disabled from my job. I am now under a neurologists care and am on Social Security Disability. When I was diagnosed, they told me to live my life and there was no need to follow up on the disease. Little was known about it, at that time. I could never keep up when any kind of stairs or bike riding or exercise was involved, as a child. Gym class was impossable. I almost drowned in the ocean because I cramped up while swimming. It was thought that I was lazy or out of shape. I was so relieved when I got a diagnosis. I have a grown son 36 and two granddaughters that all seem to be free of any form of McArdles. I only had one child, after I found out about my disease. I am more fatigued now. I need to rest more and I can not do what I did in the past. My cpk enzymes were up to 2,500 over the holidays. I think I tried to decorate too much and just wore myself out. I have never had any kidney problems, thank God. My Bun and Creat are checked every six months and my CPK’S every three months. This disease is never talked about. People have never heard of it. I think because McArdles patients are ashamed of their inability walk up steps without stopping. I always have to get my second wind. My husband of 38 years has given me the Bachowski Push as long as he has known me. Radiology was difficult at times. Pushing and pulling of patients. Heavy equipment and carrying all those x-ray cassetts became almost impossable. I do miss my job. I am so happy to see a web site for McArdles patients. Somehow, you don’t feel so alone. Thanks!!!!

    Reply
  2. Sharon

    OMG! I cannot believe there is a website for this strange isolating disease. I have been diagnosed for 20 years and do not what to expect. I am 49 and this year I had my CPK elevate to 10K after a spill off a float in a lake. At 49 my recovery took forever before I got umf back. I wonder if I will become like you Barbara. Anyone else got feedback on aging and progression of symptoms?

    Reply
  3. Katie

    I am 26, and had my first episode of rhabdomylosis at 25, my cpk was 136,ooo. I am thankful because i did not suffer any kidney damage. My cpk stays elevated at 4,000 to 7,000 at all times. I am very scared and i just got my results from muscle biopsy today. I was told to not fast and take in on a high carb diet. I am a size 6 now, and with no excersize i am a little worried. I hope it works out okay for me!

    Reply
  4. ged

    My daughter has had this disease since she was a child
    i am now wondering if Parkinson disease could be related a smy fahter had it
    is there any socialist out there that i can contact to speak to about this
    please reply to my email address gedb@talktalk.net

    Reply
  5. Kim

    I am 39 years old and suffered my whole life with McArdle’s symptoms. With any type of light activity my CPK stay between 5k – 13k. When I do absolutely nothing but sit around it is still over 1k. I have been given, what I call bad information and advice from doctors regarding having “sugary drinks” before exertion. Not only does this cause false highs from the sugar level/energy levels but also causes complications with my disease afterward such as crashing from the sugar-high, more cramping and damage. I have personally found that the majority of doctors have no clue what they are stating or suggesting and cause complications to an already complicated disease. I have been given misinformation regarding wheher McArdle’s is progressive or not. I can personally relay my experience. I have always been a weakling. I use to ride my bike and then get the second wind. I would rollerblade, jog, walk, and even swim. I cannot do any of these things any longer. My hands cramp and have began to curl. I legs and feet are always cramped, they lock and I cannot bend them and they will stay this was for days. I have chest pain and difficulty breathing. Some days are worse than others. I began having issues with my eyes a while back, it’s called oscillating vision. Some items are simply missing from view and others things appear to me be moving. I weight 119 lbs a couple of years ago. Today I weigh 106 from muscle wasting. The doctors do not take our condition serious enough, pawn the majority of symptoms off on anxiety and downplay the pain because it is not something that is easily expressed or described. Take the worse foot cramp you ever had where your toes start to curl down, multiply that by 100, and apply that pain to your entire foot, Calf, leg, both legs, hands, arm, jaw, what have you. That cramp last a normal individual seconds a minute at most. Us, hours, days, weeks. Doctors claim the disease is not progressive. It is progressive and does progress but what and how is it measured? If your missing a gene, you just do not have it. If you have two copies of a defective gene you do not get a third to show a progression. EMG’s do not measure muscles, just nerves. I had a 3D Pet Scan that shows low blood flow to a damaged area.

    Progressive meaning, continually damaging the same muscles because our body attacks our own muscles, stores the glycogen in our muscles, our muscles are damaged by exertion over and over again or due to the genetic nature, or our body cannot heal the others can. Not that we (McArdle’s sufferers) just cannot convert energy properly but that we are prone to permanent damage for repeated injury.

    My CPK’s have never been normal. The CPK’s are broken down into three types: Muscle CPK-MM, Heart: CPK-MB and Brain: CPK-BB. From my experiences and my test results both CPK MM and MB have elevated together always with Rhabdomyolosis. Given the fact CPK-MB is not only limited to heart I must state that I always have chest pain, right arm issues and difficulty breathing which leads me to believe heart and lungs are involved with McArdles and not only limited to skeletal muscles.

    Reply
  6. Wendy

    Hi to all! I was very surprised to find this website! My 18-year-old son has McArdle’s. I knew something wasn’t right by the time he was 5. I fought hard for him, trying to find answers. He sees Dr John Day, director of the Paul and Sheila Wellstone Center for Muscular Dystrophy. We had his final “hard diagnosis” when he was 14, but knew it was a metabolic myopathy by the time he was 11. He’s had many stays in the hospital for rhabdo, and we have educated MANY doctors. He’s a really great guy, and I want to see him do what he would like to do with his life. My son has pain every day, sore joints, chest pain, muscle ache and fatigue. He’s never met anyone else with McArdle’s, so I have given him this site. I hope he can share, and feel like he isn’t alone anymore!

    Reply
  7. Wendy

    @Katie My son has McArdle’s and we were told that a high-carb diet is not good for people with McArdle’s Disease. A diet that follows moderation is better, your body can still process protein and fat correctly. One of the most important things about McArdle’s is that you get enough fluid every day. Water is great, but make sure you are getting enough potassium. Some people have had luck with CoQ-10 vitamins and creatine vitamins. Every McArdle’s patient has a different “baseline” for their CPK level. Avoid caffeine. My son has a bad reaction to any stimulant, such as sudafed. His body doesn’t metabolize it correctly. There are clinical trials under way that may lead to enzyme replacement therapy in the near future. I was very scared when I realized something serious was wrong with my child, but we have adapted his lifestyle and educate as many people as we can! If you haven’t joined the MDA yet, you really should. My son also had an episode in which his CPK level was 150,000 and he avoided renal failure. I wish I could be of more help to you Katie! You are definitely not alone!

    Reply
  8. Crystal Riffle

    Hello. My husband has McArdle’s disease and I am trying to figure out how I would know if I am a carrier, so I can figure out if our 2 young children could have it. My husband has a pretty intense case of McArdle’s. In 2001 his CPK level was 186,000. He has been talking to Dr. Slonim in England to figure out why he lived with such a high cpk level. He normally ranges from 1500-2500, on a normal day. So if anyone knows what tests I could take to find out if I’m a carrier, please let me know. Thank you.
    Crystal Riffle
    elf2ir47s@hotmail.com

    Reply
  9. Jim Ottesen

    This is a great site. Most of us have had McArdle’s and can offer
    ideas. Everone has different symptoms and there are few experts,
    but experience can open new doors and new ideas to help. Read the
    previous postings, maybe something is there waiting for you. We
    are a rare group indeed, but our sharing will offer new hope and
    spread the knowledge. I am 71, have had “M” since birth, but was
    only diagnosed last year. Even our doctors can’t help most of us,
    but together we will enlighten the world. Jim (jimmi00)

    Reply
  10. Cherlyn

    My daughter is 22 and was diagnosed with McArdles in 1999. She just found out she was pregnant. I need to know what to do I am totally at a loss. What is this going to do to her? She is 4’10″ and is just so tiny already. Does anyone have any suggestions?

    Reply
  11. Jim Ottesen

    Cherlyn, Your daughter needs a consult with a neurologist that has some
    expertise with McArdle’s disease. As she recently became
    pregnant, there is plenty of time to make certain she receives the right nutrients and proper analysis of her condition. Dr. Haller, who has done extensive research in our disease, might be available on a “consult” basis at the UT Southwestern Medical Center in Dallas, Texas. You might be far away from Texas, but your neurologist could
    possibly arrange a phone consult to help ease your mind. Good luck to
    you and your daughter! Let me know what happens. Jim Ottesen(jott440148@aol.com)

    Reply
  12. Jim Ottesen

    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

    Reply
  13. Jim Ottesen

    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

    Reply
  14. Lucy

    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.

    Reply
  15. Jim Ottesen

    @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

    Reply
  16. Jim Ottesen

    @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

    Reply
  17. donna

    @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

    Reply
  18. Jim Ottesen

    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

    Reply
  19. Jim Ottesen

    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

    Reply

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