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.
By: George Fox Wow! That was a long time ago! BUT, luckily, we are still here! Phoenix is now 18 years old, and while we loved him being able to push his chair around the house, he can no longer do that. He actually isn’t really even strong enough to control an...
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