Diagnosing Pompe

Did You Know…

Pompe Disease does not occur in adults. What?!?! That is what a neurologist recently told a patient. Again….what?!?!

A few weeks ago I was contacted by one of my cruise buddies. She has a friend whose husband is suffering from a mystery disease and has been trying to get properly diagnosed for a couple of years. My cruise buddy listened to the symptoms and asked if the woman’s husband had been tested for Pompe Disease as some of the symptoms sounded like mine. My cruise buddy directed her friend to my blog. After the woman had sifted through my ramblings about everything from headaches to accessible travel she decided it was worth considering Pompe as a possible culprit.

Armed with her new knowledge of Pompe Disease, the woman and her husband asked his neurologist if he would test for Pompe. The doctor, a neurologist, told them that Pompe does not occur in adults, nor does any other form of Muscular Dystrophy.

And this is where we pause so you can take a moment and really let that last sentence sink in.

Pause over. WHAT?!?!

The woman and her husband immediately decided they needed a new doctor. Good call. Even if this patient does not have Pompe, a new doctor who is up to date on current medical information is in order. Or at the very least a doctor who knows how to use Google.

The woman asked my cruise buddy to get in touch with me. Through a series of phone calls and emails I was able to help the woman connect with some experts in her area. I also suggested she contact the Mayo Clinic in case their diagnostic journey does not end with Pompe. The woman, armed with new information and contacts took to the phones with all guns blazing. Within a couple of days she had secured her husband an appointment with a new neurologist (one who has diagnosed and treated Pompe patients), sent his medical records off to the Mayo Clinic, and contacted Genzyme. Whatever the outcome is for this family, I have a feeling they are in good hands now. I hope their diagnostic journey comes to an end soon, so their next chapter can begin: Fighting Back!

In order to help this woman, I had to relay the situation to my contacts at Genzyme. The responses I received back ranged from “Wow” to “I gasped out loud when I read that.” There is still so much work to do regarding Pompe Disease awareness and education. I have come across several doctors, either through my own experience or through stories relayed to me by other patients, who have little information about Pompe Disease. This is the first time I have heard of a doctor giving patients really, really wrong information about Pompe Disease. Scary.

Lessons to be learned here? We can never assume our medical professionals are up to date about everything, especially something as rare as Pompe Disease. It is imperative to do your research, be your own advocate, and get a second opinion.

Limb-Girdle or Pompe? Which monster is really behind the mask?

Behind the general mask of Muscular Dystrophy any number of diseases can be hiding. Diagnosing any form of Muscular Dystrophy can be a challenge because so many of the conditions mimic one another. But as medical science advances new diagnostic tests are developed and Pompe Disease can now be identified with a simple blood test.
Pompe Disease likes to pretend to be other conditions, in my case it was masquerading as Inflammatory Myopathy. Others have been told they have Lupus or Fibromyalgia, but one of the biggest pretenders is Limb-Girdle Muscular Dystrophy (LGMD).
LGMD presents in a lot of the same ways as Pompe does, but since Limb-Girdle is slightly more common it often wins the diagnosis costume contest. Because LGMD makes sense, doctors and patients often accept this diagnosis without really looking beyond the mask.

It is estimated that as many as 15% of adult LGMD patients have been misdiagnosed and actually have Pompe Disease!*

Genzyme is encouraging doctors to re-examine their Limb-Girdle patients and test for Pompe. The treatment plan for Pompe is much different than that of Limb-Girdle. I have experienced first hand how beneficial it is to actually have the correct diagnosis. When I was misdiagnosed with Inflammatory Myopathy I was prescribed steroids (Prednisone). These did nothing to help my condition. They did however have wicked bad side effects including (we theorize) permanently shrinking my veins which makes it difficult to draw blood, and of course insert my IV every two weeks. Now, with my correct diagnosis of Pompe, I’m doing really well on my treatment plan.
You’ve got to know what kind of monster it is in order to really fight it!
If you or someone you know has been diagnosed with Limb-Girdle Muscular Dystrophy, I encourage you to seek out a second opinion. Talk to your neurologist or GP or contact your local Muscular Dystrophy Association office and ask them about testing for Pompe Disease.
The monster behind the mask may not be the one you think it is.
 *Goldstein JL et al. Screening for Pompe disease using a rapid dried blood spot method: Experience of a clinical diagnostic laboratory. Muscle & Nerve 2009; 40:32-36.

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!