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When the 'Abnormal' Becomes 'Normal' in Life With a Rare Disease

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The evening of March 13 was pretty normal for me, I went to bed early after spending the day receiving  enzyme replacement therapy (ERT) to treat my Pompe disease. I ate dinner and later didn’t feel well, so I went to bed around 8 in the evening. My husband came to bed several hours later, but I barely noticed him.

Suddenly around 11 p.m., I became extremely hot and began experiencing crushing chest pain. I tossed and turned in bed for a few minutes, hoping that if I changed positions the pain would go away. As part of my disease I struggle with chronic pain, and sometimes this pain wakes me up or makes it more difficult to fall asleep; however I knew pretty quickly that this pain was different.

When the chest pain did not go away with several position changes, I decided to sit up in bed to see if that would make a difference. It didn’t. I woke my husband and attempted to explain what was happening. I asked him for a glass of water, which didn’t help, and he also gave me some antacids, which also didn’t help. Over the next few minutes the pain became more severe, and as a person who lives with pain daily, I can honestly say it was the worst pain I have ever experienced. I was becoming increasingly afraid that I was having a heart attack.

According to the American Heart Association some symptoms of heart attack for women include, uncomfortable pressure, squeezing, fullness or pain in the center of your chest. It lasts more than a few minutes, or goes away and comes back. Pain or discomfort in one or both arms, the back, neck, jaw or stomach, and shortness of breath with or without chest pain, and other signs such as breaking out in a cold sweat, nausea or lightheadedness. I had about four of these symptoms, including chest and back pain. I asked my husband to call the ambulance about 20 minutes after these symptoms began. The operator asked to speak to me and began asking me questions about what was going on. I admit I was impatient with her and just wanted the ambulance to get there. It was hard speaking let alone answering questions about my medical history.

When the ambulance arrived I walked to the paramedics, as I didn’t want to wake my children and cause them to worry. My husband helped me walk to the ambulance where the paramedics, Clare and Jennifer, took good care of me. They had never heard of Pompe, but that didn’t stop them from providing me with the best care, even when my electrocardiogram (EKG) came back abnormal.

Upon arriving at the emergency room, the doctor was operating under the assumption that I had a heart attack. Another EKG was preformed and it too was abnormal, so blood was drawn in order to check my troponin levels. This was not the first time doctors have been concerned I have had a heart attack, and fortunately this time I did not have one. In February of 2017, I had a reaction during ERT and the doctors were concerned I had a heart attack because I was having chest pains. My EKG was abnormal and my troponin levels were above 300. Troponin is a protein that is released in the blood when the heart muscle has been damaged, the upper limit for normal individuals according to the Mayo Clinic is 0.01 ng/ml. During that incident I had an angiogram which showed my heart was healthy. During this most recent incident on March 13, testing showed my heart was healthy. However, after spending 12 hours in the emergency room, the doctors were no closer to being able to explain what had happened. They were not able to tell me why the EKG was abnormal and the best guess for the high levels of troponin is that because Pompe disease effects skeletal muscles this could cause a false positive when testing troponin levels.

The doctors in the emergency room were sensitive to my needs and concerns, even though only one of them had ever heard of and met a patient with Pompe. Every doctor who came to see me said they read about Pompe before coming to my room, and they thanked me for educating them further.

But this experience has left me with some anxiety today — a level of anxiety I have not felt in a long time. It’s an additional reminder of my own mortality. I never felt so alone as I did during those early hours of the morning while I lay there in that hospital bed. I was truly afraid I had a heart attack and as the pain returned, I was afraid I was having another one. This experience has taught me the importance of knowing my body and what is normal for me. Had I not known that my troponin levels were high, and that I had a previous abnormal electrocardiogram, the doctors in the emergency room may have treated me with more invasive methods or even surgery.

Having a rare disease can sometimes make more common ailments harder to diagnose, so it is important for me to know what is and is not normal for my body. At the same time, doctors and nurses need to be willing to listen to and learn from their patients, especially when they’re rare, so they can provide the best care possible.

Originally published: March 15, 2018
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