Pompe Diagnosis Brings Relief After One Woman’s Long Search

On July 10, 2015, I was diagnosed with Pompe Disease. Pompe is a rare, multisystem genetic disorder that is characterized by absence or deficiency of the lysosomal enzyme alpha-glucosidase (GAA).

When I think back on it, I began to have symptoms in my mid to late 20’s. I developed an elevated liver function with no reasonable explanation, and after the birth of my second child I began to notice more symptoms. I was 33-years-old and could not run, stand on my tip toes or jump. But none of these things interfered with my daily life so I didn’t pay it any attention and just assumed it was due to the weight I had gained during my pregnancy.

My journey began when I decided that I need to lose weight after my son was born. I had gained almost 40 pounds and was ready to take the weight off, so I began exercising about three days a week and had changed my diet and began eating healthier. That’s when I developed water on the knee, and my doctor told me that my knee caps were out of place because I had muscle wasting in my lower legs. This didn’t make sense to me as I was working out and lifting weights, if anything I should be developing muscle. And the worst part of this was the doctor told me that he didn’t know why I was losing muscle and that there was nothing he could do about it. I decided that it was time for a second opinion. This doctor was of no help and when I asked about Muscular Dystrophy, he told me that women don’t get Muscular Dystrophy. I was extremely angry, so I decided that if the doctors were not going to ask the right questions, then it was up to me to find the right people and ask them the right questions. That’s when I called the MDA.

The MDA directed my to the doctors at Johns Hopkins after running some tests they determined that I had MD, but needed to do some genetic testing to determine which type of MD I had. The genetic testing came back negative, so my doctor referred me to the NIH for further testing. When I sat down with the doctor at NIH the first thing he said to me was “I think you have Pompe Disease, and there is treatment for it.” It was such a relief to hear someone say we know what’s wrong with you and we can do something about it. I receive enzyme replacement therapy every other week, and will do this for the rest of my life. I am hopeful for my future now. I have hope that I will have a better quality of life and be able to have more quality time with my family. My message to anyone going through this is to not give up, this is a journey that you will have to take and it is scary, but you will find the answers if you just keep moving forward.