Living with Pompe

By Heather, Pompe disease, late onset, United States, February 12, 2020

I was diagnosed with Pompe Disease in July 10th 2015. I know something was wrong with me but mostly assumed that I was getting old and needed to exercise more. I began having major symptoms about 5 years before my diagnosis but my symptoms didn't prevent me from continuing to live a "normal", active life. By the time I was in my mid 30s I had lost all ability to wear a shoe with a heel on it, I could no longer run, stand on my tip toes, I couldn't walk up the stairs in an upright position, I couldn't get up off the floor without assistance, and my breathing became labored among other things, but it was water on the knee that took me in to see my doctor.

By this time I was about 38 years old and the symptoms of  Pompe were getting worse. About 5 or 6 months after being treated for the water on the knee I was back in my doctor's office because I was now having pain in both knees it was keeping me awake at night and it felt like my knee caps were on fire. My doctor told me that I had muscle wasting in my lower legs which was causing my knee pain. He didn't know why I had muscle wasting and referred me to physical therapy. I had no idea that a person could lose muscle, so I began doing research and I saw another doctor for a second opinion. The second doctor said the same thing as my doctor, I had muscle wasting. I asked the second doctor about Muscular Dystrophy because my brother had be diagnosed with it. The doctor told me that women don't get Muscular Dystrophy. I left the office extremely angry because I knew that wasn't true, I had looked at the MDA website and there were women on the website. 

By this time I began experiencing daily pain, all of my joints and muscles hurt. I couldn't sleep and when I could I would wake up in pain from head to toe. My joints felt like they were on fire, I couldn't breathe when I would lay flat or if it was too hot or cold outside. I would feel sick after eating and I was tired all day, often falling asleep at my desk at work. However during all of this I found a great doctor who was helping me find the answers that I needed. 

I remember the day I received my diagnosis like it was yesterday. It was a relief to finally have an answer but I was also scared, sad and angry, but mostly I was hopeful because there is treatment for Pompe and now I could make plans for my care.

In the 4 and a half years since my diagnosis I have learned to live my life inspite of having Pompe Disease. My life has changed so much since my diagnosis, some for the better and others not so much. I had to leave my full time job as a Social Worker. I loved my job and it was incredibly rewarding, and right now I am living apart from my husband and children because I am unable to travel overseas to be with them because of the treatment that I receive for Pompe. The treatment is extremely expensive and it's biweekly, as a result I am unable to get the treatment overseas unless my insurance will cover it. However since my diagnosis I was able to live in Australia with my family for 2 years. I was able to check several items off my bucket list, including snorkeling at the Great Barrier Reef, watching the fireworks in Sydney on New Year's Eve and visiting the Sydney Opera House.

I have also had the opportunity to travel to Europe, New Zealand, England, Italy, Spain and Singapore. Not working full time has also given me the chance to focus on my hobbies again. I have become an advocate for rare disease patients and have attended Rare Disease Week on Capitol Hill twice and plan to attend again this year. I have also attended othe patient focused meetings and started a patient organization. Before I was diagnosed I knew that I was dying, I was in so much pain that I didn't know how a person could be in that much pain and not die. Someone recently said to me that they were sorry that I was suffering from Pompe, and I quickly told her that I am not suffering from Pompe, I am living with Pompe. 

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