HILLARY’s Story

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.

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