I was diagnosed with Pompe in my mid-20’s after losing weight for several years. I am now in my early 30’s and feeling better than I was when I was diagnosed. I had a typical childhood. I swam on the swim team during the summertime, and during the school year I sometimes ran track or played on the volleyball team. I have always been tall and thin, but towards the end of college I started seeing physicians concerning digestive issues. Six years later, and after a myriad of tests, I finally had an answer. Thankfully, with a diagnosis I was finally able to begin some treatment and slowly feel better and stronger.
I went to see Dr. Slonim, in New York, and he is not only an expert on Pompe, but he is a doctor with a heart of gold. He is the pioneer of the NET approach - Nutrition & Exercise Therapy. I made changes to my diet and exercise routine which have dramatically improved my health. I try to stick to a high protein diet, and limit carbohydrates. I exercise a lot - I walk on my treadmill five mornings a week, and then I also do a combination of pilates & physical therapy two mornings a week and quick strength and flexibility exercises at home. Taking care of myself is akin to a part time job. I have to put my health first. I exercise in the mornings, and then work in the afternoons as a reading tutor for dyslexic students. Four years ago I added Myozyme (aka Lumizyme) to my treatment. Since that time, my pulmonary function has stabilized, and in combination with all my physical therapy I have gained strength. Myozyme is not a cure, but over the long term I feel like it has made all the other work that I do much more beneficial. I even started skiing again!
Due to the rare nature of this disease I have had to become very responsible for my own knowledge of the disease and I take information about Pompe to every new physician that I see. I am followed by a muscular neurologist, cardiologist, pulmonologist, genetic metabolic specialist, and gastroenterologist. For some of those physicians, I am their only patient with Pompe that they have ever seen. I have had to be very assertive with my insurance company as well, which is designed to deny many claims associated with any type of rare disease. I have had to fight for the treatment and benefits that I’m entitled to.
The emotional challenge of a diagnosis like Pompe’s has been tough. I feel cheated out of the life I always imagined growing up. It’s difficult not knowing the course that my disease will take in the future. All I can do is try to work hard every day and try not to let Pompe run my life. I spend time relaxing at home, enjoying the outdoors, hanging out with friends and family, and traveling. I am very lucky to have a supportive family. I live in the beautiful state of Oregon with my husband and beagle.