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.
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!