My name is Heather, I am 44 years old and live in America. I was diagnosed with Pompe on July 10, 2015 after about 2 years of searching for a diagnosis. When I think back, I have had symptoms for as long as I can remember, but my parents have told me about my troubles walking when I was a kid. My mom told me that when I was about 5 years old, she and my dad took me to see the doctor because I walked with my feet turned in. Back them the treatment for this was to put metal rods in my shoes, but my parents thought this treatment would be painful and cruel. I grew up doing the same things my friends did, I played softball, tennis, rode horses, I was a swimmer, and tried ballet, tap dancing, ice skating and gymnastics. However I used to trip and fall often, and it was kind of a running gag with my friends and family that I was just clumsy. It wasn't until I was about 25 years old that I started having symptoms that effected my daily life. I began to lose abilities, I could no longer wear shoes with a heel, I couldn't walk up stairs or get up from the floor or a chair without assistance, I couldn't run, hop or stand on my tiptoes and I would get winded walking up a hill or stairs. I ignored all of these things, because it didn't have an impact on my daily life, I was able to maintain my work, family and social life. It was about 6 or 7 years ago I began to have significant pain and developed water on the knee, but this pain didn't have a major impact on my daily life. Actually I thought this pain was the result of some weight I had gained while I had postpartum depression. However when I lost the weight the pain didn't go away.
In June of 2013 I had water on the knee and went to see my orthopedic, he drained it and said that everything would be fine, but a few months later I had pain in both knees and it was radiating down into my legs. I went for a second opinion and was told by that doctor that women don't get Muscular Dystrophy after telling him that my brother had been diagnosed with MD a few years prior. Naturally I was angry after being dismissed, so I called my brother-in-law who suggested that I call the MDA. The MDA put me in contact with Johns Hopkins in Baltimore, Maryland. After my first appointment the doctor thought that I might have Charcot Marie Tooth Disease, and sent me to see a colleague for additional tests. After some genetic testing and an EMG my doctor was able to rule a few things out, however we were no closer to finding a diagnosis. At that point he had asked if my brother would be willing to allow him to review his medical records. It took some convincing, but ultimately my brother agreed. When my doctor reviewed our records together, he was stumped. My brother had been diagnosed with a form of Muscular Dystrophy that only men get, and my doctor thought it highly unlikely that having the same parents we would have different genetic diseases. With that my doctor referred us to his colleague at NIH (National Institute of Health). I spent two days at NIH with my parents and brother, and during our first meeting with the doctor he said I think you have Pompe Disease. He suspected this only by reviewing our medical records. The doctor did the finger prick blood test and a week and a half later my brother and I had a diagnosis.
Since that day I have experienced so much. I like many Pompe patients experienced the stages of grief, I experienced depression and anxiety. I went to therapy during my diagnostic journey and for a time after. But thanks to my wonderful support system I have been able to move to a good place and have some once in a life time experiences.
While all of this was going on my husband got a new job that would require us to move overseas for 2 years and I sadly had to leave my dream job. After some setbacks we were assigned to Australia in January 2016, so I had to begin planning for my care and treatment overseas. It was a lot of hard work and took about 5 months to coordinate but it worked out. The planning involved the American Embassy in Australia, my insurance provider, my Genzyme Case Manager, the hospital in Canberra, the doctor in Canberra, my doctors at the Cleveland Clinic, CVS Caremark and The Australian Pompe Association. There were many times when I thought it wasn't going to work. Talking to the insurance company was hard, and when I would call I would never talk to the same person, so it was like starting over. I began asking that someone be assigned to my case and they would tell me that they don't do that. My response to them was that just because you don't doesn't mean you can't. In May of 2016 I received a call from Ruby at the insurance company, and she had been assigned to my case. From the time Ruby came on board to the time I was approved to go to Australia was less then 30 days!
Australia was my number 1 place to visit, and I lived there for 2 years! While we lived in Australia my family and I visited the iconic Bondi Beach, The Sydney Opera House, and my number 1 bucket list item the Great Barrier Reef. We also saw the fireworks in Sydney Harbor for New Years Eve! When I received my Pompe diagnosis I thought I was done traveling and having an active social life, but I am proof that you can move on with Pompe, and that a person can have a rare disease and live an active productive life.
Two things I have learned on my journey with this disease, is to never take no for an answer. We have gotten so used to hearing the word no that we sometimes just stop there and don't think to ask again or to ask someone else. The second thing I have learned is that changing my dreams is not the same as giving up my dreams, I just have to find a different path to achieving them.
