Diagnosing Pompe

It was a zebra, not a horse, that left the hoof prints.

Pompe Disease can be a challenge to diagnose. It is so rare many doctors do not even think to look for it. It is the zebra, not the horse, that left the hoof prints. After I was finally diagnosed with it my GP said, “Pompe Disease is one of those rare diseases we read about in medical school and then never hear about again – let alone see it in a patient.”

My path to diagnosis started with headaches. Others have experienced different symptoms from hair falling out, difficultly breathing, and of course muscle weakness. One patient I know was even told at one point she did not have Pompe! The disease mirrors other forms of muscular dystrophy and effects each patients differently, so it is no wonder why the average diagnostic timeline spans over years, often including at least one misdiagnosis.

Doctors don’t automatically look for Pompe Disease and often dismiss symptoms as not being related to a bigger condition. My neurologist in Las Vegas knew I had some form of muscular dystrophy and strongly felt the headaches were related. But when I was sent to UCLA for a diagnosis, the “specialist” there wanted nothing to do with my headaches or other symptoms I was experiencing including shortness of breath and coughing. He sent me back to Vegas and told me to deal with these problems individually as he was only going to address my muscle weakness. Everything else was just “something else” and couldn’t possibly be related to a Muscular Dystrophy as he had never seen anything like that before. This is also the guy who told me a muscle biopsy wouldn’t hurt and refused to give me any post-operative pain killers. I have ranted about the crap care I received at UCLA in earlier posts, so I’ll try to keep it to a minimum here while making my point – which is, don’t dismiss symptoms as being unrelated and do not let your doctors do that either. If you suspect you or a loved one may have Pompe Disease or another form of muscular dystrophy, every clue is important.

 

Don’t be afraid to ask for a second opinion. Don’t be afraid to ask your doctor to specifically test for Pompe.

The headaches, we now know were occurring because of the weakening of my diaphragm and other muscles surrounding my lungs. Morning headaches are a very common symptom of Pompe, a symptom that the “specialist” at UCLA so casually dismissed. When I finally got fed up with UCLA, I sought answers at the famed Mayo Clinic in Rochester, Minnesota. The neurologist I saw there, did not dismiss my headaches and actually successfully treated them.

Pompe Disease can wreck havoc on the body in so many different ways. One family was sent on their diagnostic journey when their youngest daughter’s hair started falling out in clumps. They were also told by one doctor that this was not related to Pompe, but they have spoken with other Pompe patients who experienced the same symptom.

Bottom line is this: most medical professionals know very little about Pompe Disease. Unless you are lucky enough to been seen by the Mayo Clinic specialists or the Dr. Barry Byrnes of the world right away, your diagnostic journey could be a long one. You have to do your own research. Read as much as you can, talk to as many experts and other patients as you can. The information shared between patients is invaluable as there actually is very little literature freely available to the public out there on Pompe. Get yourself to an expert who knows and has seen Pompe if you can. Ask for a blood test to confirm diagnosis hopefully before they put you through a painful, expensive, and scar-leaving muscle biopsy. Pompe Disease can be diagnosed through a blood test which is sent to Duke University. The test results can usually be turned around in less than a week and only costs about $250. Most insurance companies will pay for this test. If you feel your are running out of options in your local area and traveling to Mayo or somewhere else is out of the question, then reach out to your local Muscular Dystrophy Association. They are a wonderful resource and can help ease the path to diagnosis.

With Pompe Disease, early diagnosis is key as it is a progressive disease. The sooner a diagnosis is made the sooner you can start the life saving enzyme replacement therapy.

You have to be your own, or your child’s, advocate!

I think we should adopt the zebra as our official mascot!

25 comments

  1. You make very very good points. Don’t be afraid to ask more questions, don’t let them rush you and don’t be afraid to say, “No, that’s not right!” As much as some might not think so, doctors are just people and people make mistakes. You know how you feel much better than anyone else does, right?!

    I was lucky that we started trying to diagnose me a long time before I had any significant symptoms. Still, it took a very long time. I remember when my specialist called and asked me to come in for an appointment. I was taking the 5 hour drive and thinking to myself,,, they better tell me there’s really something wrong this time or I’m going to be ticked! Be careful what you wish for, lol!

    1. Thanks Brad! As you well know, everything about this disease is a fight. From getting the proper diagnosis to getting treatment approved. Fight! Fight! Fight! And never give up!

      1. … and replace frustration with determination, fear with knowledge, and helplessness with the love of the people that stand beside you. There are more of those people than you could ever imagine!

  2. I really like this post!! You are an incredible advocate for Pompe! Keep up the good work Monique!

  3. My husband is in the process of finding out what is wrong with him. A doctor at OHSU in Portland thinks it is Pompe Disease, so as of last week that is what they are looking at.
    His first symptom is severe pain every time he uses his arms. It takes days to get over the pain when he exerts himself. It’s been 3 years now since it started, and muscle weakness is increasing. Pain is constant.
    On all of the information I see regarding Pompe Disease, I do not see “pain” as a symptom. Can anyone out there tell me if they experience horrible pain associated with Pompe Disease? He had a muscle biopsy done over a year ago and it came back “abnormal”. We could have told them that much, but it is a process of elimination at this time.
    Thanks for any insight someone can give.
    Jo

    1. Jo – this is one of the reasons I keep this blog, because when I was first diagnosed I found there was very little information out there for patients. It can be scary and when there is little information out there it can be really frustrating and scary. If it turns out to be Pompe, just remember this is a condition that has a treatment – enzyme replacement therapy. This is a good thing as so many conditions do not have a treatment available yet. A drug called Lumizyme (for adults, Myozyme for patients 8 and under) was created by Genzyme, and Lumizyme is now (as of May of this year) commercially available for adults. There is a lot of support out here on the Internet for patients and their families. I will be happy to help you get in touch with others should you want to.

      And yes, I have experienced a lot of pain throughout the years. It is kind of an ‘achy’ feeling in my legs, arms, and back. I was in pretty much constant totally dibilitating pain for most of 2009. I still get flare ups now and then, mostly in my legs but I’m doing a LOT better pain-wise since starting enzyme replacement therapy. I have spoken with a number of other Pompe patients who experience pain – some were even put on the Fibromaylgia drugs for pain management.

      For me, anti-inflammatory foods and medicines seem to work best. Like Aleve and blueberry juice (blueberries are a natural anti-inflammatory). Therapeutic massage also helps.

      Have they drawn blood yet to specifically test for Pompe?

      Please keep me posted and let me know if there is anything I can do, or if you just need to talk.

      Monique “MEG”

      1. Hello Monique,
        I SO appreciate your response!! I called my husband (Darrell) and told him. It is reassuring to him to know that he isn’t crazy!! The doctors, for the last 3 years, had been telling him he was just over-using his arm muscles and that once he did physical therapy and rested, he should be fine. No matter how much resting he did, he did not get better. We are in the process of getting another referral to OHSU, and I think they will do a blood test at that time to test for Pompe. Darrell’s father has the same symptoms but they called it “Atypical Muscular Dystrophy” and gave him heavy drugs for the last 25 years. He is skin and bone at this time and his teeth have fallen out from all the pain medication. Darrell’s great-uncle had something similar, so it seems to be hereditary.
        I will be watching your blog. Darrell’s arm aches just to sit at the computer and use the mouse, so I am doing what I can for him. I will look for anti-inflamatory foods on the internet and see what that does for him. Even if it ends up not being Pompe, that would be a great idea!!
        Thank you again.
        Jo

        1. I was diagnosed by a muscle biopsy (surprisingly it wasn’t too painful) after two years of tests in 2003. I was also diagnosed with fibromyalgia by a different physician. This is the first I’ve heard of pain being associated with Pompe, but it makes sense to me. I’ve even on lumizyme since 7/11, and I can’t say enough how lucky I am to have been diagnosed (it answers so many things I’ve had problems with throughout my whole life -I just turned 60) and, that there is a treatment now. Also, I’ve learned about things that cause inflammation, such as artificial sweeteners like aspartame, etc., and even peanuts and peanut butter. I stopped both of those about three years ago and that has helped some of the pain. My daughter is a chiropractor and learned a lot of homeopathic and natropathic medicine, some of which she has passed on to me. I hope some of these things are helpful. I was swimming for exercise (not freestyle -can’t do the breathing) but when I got a muscle spasm in my back, i found that the swimming made it worse, but I have to try to exercise. A friend suggested that I tread water and so far my back spasm hasn’t returned. I’m so so glad to have found this blog. I hope some of my “finds” can help others, and reading yours has helped me.

    2. It’s frustrating going through the process. It took me about 7 years to get diagnosed, but they learn more all the time. I hope you and your husband get an answer soon.

      The disease presents itself differently in everyone. I guess that’s why it’s not always an obvious diagnosis. The only pain that I’ve experienced is as a result of muscle weakness. My core isn’t strong, so if I overdo it, I usually get a sore back and hips. My legs get fatigued but no problem with pain. My core affects what I can do with my arms, but again, really no pain there. My feet get quite sore, but I’m not even sure that’s related.

      I had a muscle biopsy too, not a great experience. I hope your husband has a doctor that’s willing to listen to him. That’s an important thing. Good luck. I know how frustrating it is just not knowing.

      You’ll find it informative to read through M’s blog. Lots of great info here.

      Brad

      1. Hi Brad,
        Thank you for your input… Darrell is just now finding doctors who are listening to him and acting on the problems and not just getting us out of their office. This is a real blessing!! We have a great team at 2 different hospitals, so we feel like things are starting to click.
        We’ll keep an eye on this blog. It is interesting to see how different it is in each person, and how wonderful to know that there is hope!!
        Take care and thank you again!
        Jo

      2. Jo – I had my moments of “am I crazy?’ during my diganostic process. When you know something is wrong but the doctors can’t find anything, you do start to wonder.

        Have they tested your husbands CK levels? This would be a blood test. High CK levels (like in the several hundreds) is a clue to Pompe.

        Good luck! Please keep me posted!

        Monique

      3. I get my Ck levels tested regularly and they are in the hundreds too. I was also told that is typical, tho it is for some other things too I think. My understanding is that it’s an indication of muscle or liver issues, so is probably high for other types of MD too?? I dunno, just think’n??

        Jo, that’s awesome that Darell has a good team in his corner (that includes you!). That makes a huge difference. They’ll figure this out.

        Interesting that it looks like this is in his family. You know Pompe is genetic, right? If it turns out that it is Pompe, genetic testing can be done to see if other family are carriers. I was tested, and they found the two bad genes, so that others in my family could be tested. It’s harder to test a person’s carrier status than it is to test if they actually have it.

        Take care,
        Brad

    3. Hi Jo,

      I’m Donna Blackwood from Portland, Texas. I’m so sorry to hear about your husband’s pain. I hope that he will soon get a diagnosis. I also have severe pain. Whenever I walk in my walker at the grocery store where I have to do a lot of walking, I get severe pain in the upper outer area of both thighs. My upper legs will also feel extremely weak and fatigued. The weakness and pain are so severe that I have to keep sitting down on my walker seat about every minute. It’s getting worse, and now I don’t even use my walker when I go shopping anymore. I go in my wheelchair, and my mother pushes the basket. I have read on the internet that pain is a big problem for many Pompe’s patients. I will also get pain in my upper arms when do certain things, such as holding the phone receiver or my cell phone up to my ear. My upper arms have always fatigued very easily from doing just simple things, ever since I was 15. I’m 55 now. I will soon be tested to see if I have Pompe’s I can really empathize with what your husband is going through. I will pray that he will soon get a definite diagnosis. Donna Blackwood

      1. Hi Linda,
        I don’t even remember what all the doctors have done to Darrell now, but they say he does not have Pompe. His arms hurt also when he is on the phone, or holding the mouse for the computer. He has passed out from over exertion – the doctors said his oxygen does not go from his blood stream into his body the way it should. But then after all these tests they say he is “normal”.
        The doctors admit something is wrong, but each test says “normal”. I don’t know if they just don’t want to look further or what, but we live in Oregon and now they are trying to get him referred to the Mayo Clinic. I guess he isn’t normal if he needs to go there.
        This is all very frustrating. It is in my husband’s family but no one has ever been diagnosed. They just go on pain meds and live out their lives, slowly shrinking in size and strength. Darrell is the 3rd generation that we know of. He would like to be diagnosed if for no other reason than future generations, but it sure is a chore!!
        Well, we will be praying for you also, Linda! It would be great to get real treatment rather than simply treating some of the symptoms.
        God Bless!!
        Jo

        1. Jo:

          Mayo is great! If your insurance will cover it, you may be able to an appointment as a “self referred” couldn’t hurt to ask right? The wait list for any of the site is usually a few months and you can place yourself on all three to see which location has an opening first.

          I recommend Dr. Brent Goodman in Minnesota and Dr. Elliot Dimberg in Flordia both are in neurology.

          Did they actually test for Pompe and it came up negative?

          Good luck and please keep me posted!

          Monique

      2. Sorry Donna… I said “Hi Linda” but I meant “Donna”. Linda was another writer.
        Sorry again and thanks for your prayers!
        Jo

  4. I am 46 and have been in the study from NYU to see if pts diagnosed with a unspecified myopathy etc may instead have pompe. My GAA dried blood spot was positive. They are now doing the gene analysis to determine the specific mutation.
    I live only 30-45 mins away from Duke. I have an appt there Feb. 14. I currently see docs at UNC. I was dx’ed with a presumably mitochondrial myopathy. I have proximal muscle weakness with severe resp.muscle weakness. I have noticed lately more muscle pain- achy in nature. My muscles fatigue very quickly. It is difficult to stand for an extended time and climb stairs. Getting out of the tub is difficult. I have shortness of breath esp. with exertion.
    I am anxious to get the genetic analysis results. I am hoping pompe is confirmed since there is a treatment available. My symptoms seem very consistent with pompe.
    I enjoyed reading the posts here. Thanks for allowing me to tell my story. 🙂

    1. Linda:

      I’m not a doctor, nor do I play one on TV, but yes – I would have to agree that Pompe sounds very probable. Especially with the positive blood spot test.

      There are other Pompe patients being treated at Duke – if that is where you will go for ERT, so you’ll have a wonderful support network. That is very important!

      I wish you the best of luck and please let me know how you are doing!

      Monique

    2. Hi Linda. I am a Pompe-person too. I’ve had genetic testing done and they were able to find the two mutations. I was told that they aren’t always able to find them. So, if they aren’t able to find yours and say that it means it’s not Pompe, question whether or not that’s 100% for sure. There are many different mutations that can cause this. Things may have changed since I was tested but it’s not that long ago so probably not. I agree that your symptoms sound consistent with Pompe too, but make sure. If it’s something else, you need to know that too! All the best.
      Brad

  5. That looks like one of the zebras at Animal Kingdom Lodge! Good points and they apply not just for people who suspect they have pompe disease, with any medical condition, there is so much going on that sometimes even the best of doctors are overwhelmed so do not hesitate to talk with others and present information you find to your doctor, if the doctor is not willing to listen, go elsewhere!

  6. Monqiue, thanks so much for this blog. My wife and I have just been thrust into the hell that is metabolic myopathy. She’s been in unrelenting muscle pain for weeks — calves, fingers, forearms, shoulders, butt, back, chest, neck, you name it, sometimes intermittently, sometimes together — and we before we finally got into see the neurologist we were convinced she had either MS or FMS.

    When he told us he suspected glycogen storage disease, we were like — what? We went home, did research, and only became further confused and frightened. We have two weeks to try and put some pieces together on our own until she goes in for her muscle biopsy, which we hope will bring a little more clarity to the situation.

    Honestly, we’re both terrified. She breaks down and wonders if the pain will ever go away — nothing helps alleviate it. I break down and wonder if our lives will ever seem normal again. Her CK levels aren’t elevated right now, but the doc tells us those can be very fluid. We both just want answers and relief.

    It helps to read things like this and know we’re not alone. The world just seems to be ending right now. Thanks again.

    David

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