The story of Heather
My name is Heather and I was just your average 40 year old living a comfortable life with my husband and two children in Maryland. When I think back on my life, I always knew something was not right, but could not explain it and doctors always told me that I was very healthy. All the while Pompe Disease was causing my muscles to waste away.
I have always been what I would call clumsy. As a matter of fact I often joked about it with my family and friends. Tripping or falling was just part of my day. I actually feel down while I was pregnant with my first child which resulted in him being born 8 weeks early (he is 9 now and doing well). My liver functions have always been high, since I was about 25 years old. I underwent many tests to try to figure out why my, but the doctors could not find anything wrong. In the mean time I began losing certain abilities. I could not longer stand on my tip toes, jump and hop. I was losing the ability to run, get up from the floor without assistance, and walk up the stairs upright and without getting winded. I also had a very difficult pregnancy with my second child, I developed pleurisy and ended up on bed rest for 5 months.
In the spring of 2013 I developed water on the knee and went to my doctor. He drained the fluid and told me that everything was fine. With in about 5 months I was having pain in both knees and my lower legs. I went back to the doctor and he told me that my knee caps were out of place and that I needed physical therapy. He also told me that I had muscle wasting and atrophy in my legs, and for the first time I was able to see it. This didn’t make sense to me, because I had been working out and lifting weights. How could my muscles be wasting? I went for a second opinion and asked the doctor about Muscular Dystrophy as my brother had been diagnosed with an unknown form of MD. The doctor told me that women don’t get Muscular Dystrophy. I was of course upset by this and decided to get a third opinion.
I called the Muscular Dystrophy Association for help and was connected to Johns Hopkins in Baltimore. I received wonderful care there. I had several tests including DNA testing, only to be told that they still did not know what I had. All the while I was in pain everyday. Having trouble walking, breathing and sleeping. I was not able to spend time with my children and husband like I wanted. I was depressed, tired and angry much of the time. I tried many different alternatives to pain medication because I was having bad side effects. At this time I also began loosing strength in my right arm and hand, which was very upsetting because I was in pain when I would write or type. I often could not sit in my chair at work because of the pain.
2015 was probably the hardest year of my life. In February I celebrated my 40th birthday, and about a month later I got pneumonia and was sick for a month and a half and at one point the doctors thought I was having a stroke. Also about this time my doctor was collaborating with my brother’s doctor and we were referred to NIH for a study. In June when we sat down with the doctors at NIH they said to my brother and me that they thought we had Pompe Disease. After two days of testing and meetings I was told that they would have results for me in about 2 weeks.
That was the longest 2 weeks of my life, and during this time I started having sever stomach pain and abnormal vaginal bleeding. Turns out I had appendicitis and a cyst. After 2 surgeries and several stays in the hospital, the doctor calls to tell me that the test confirmed Pompe. That was July 10, 2015. I had so many emotions go though my head in about 10 seconds. I was angry, scared, sad, worried, happy and hopeful.
You see there is treatment for Pompe disease. It is a biweekly infusion that I will have for the rest of my life, but if all goes as planned it will improve the quality of my life and give me more healthy, quality time with my family and friends. I began treatment on November 10, 2015, and it has been a huge adjustment to my life, but I have hope! I have a great support system with my family and friends, and have learned to never stop asking questions. I just thought I was getting older and was out of shape, and that’s why I couldn’t run or jump. Pompe effects less then 10,000 people world wide and most doctors have never heard of it let alone met a person who has it, so I have made it my personal mission to educate people about my disease. The sooner a person can begin treatment the better their quality of life can be. My life has changed so much in the last year, but I continue to have hope!
Heather Shorten