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.