How long before my diagnosis was I experiencing symptoms of Pompe?
A columnist reflects on years of inexplicable health issues and test results
A long time ago, in a galaxy far, far away, I was celebrating 36 years on this planet. I’d just returned from the mountains in my landspeeder when I received a phone call from my sister. My dad, who was five months into his second round of chemotherapy for prostate cancer, had collapsed during treatment and was in the hospital.
I was living in Spokane, Washington, at the time, so I traveled to Southern California to be with my family and say my goodbyes to my dad. A few days later, he passed away. I stayed for his funeral.
Upon my return to Spokane, I scheduled an appointment with my primary care physician to run some tests and have my prostate checked out. Some of the test results indicated that I had gallstones, so the doctor recommended we remove my gallbladder. While I was under anesthesia, the surgeons also performed a liver biopsy due to my elevated liver enzymes. The surgery went well, and the biopsy was normal.
Soon, I started seeing a physical therapist. I tend to walk like a gorilla or the Grinch, leaning backward with my arms flailing behind me. The physical therapist determined that I had tight hamstrings and calves, which was causing my muscles to pull me backward and out of proper posture. All I needed to do was stretch those muscles and all would be good. Or so I thought.
Time after time, doctor after doctor, I was told all my symptoms and health issues occurred because “that’s just the way you are.” All tests were negative, and there was no explanation for why I walked the way I did or why I always seemed to have stiffness in my lower back. No reason as to why my liver enzymes were elevated, yet my biopsy was normal. That’s just the way I am.
Fourteen years later, on Nov. 19, 2018, I was diagnosed with late-onset Pompe disease. When I look back on all the years leading up to my diagnosis, I wonder if the issues I experienced were related to Pompe disease. How do I know if something is a symptom of Pompe or just a result of old age and tight hamstrings?
When I lean forward as I walk to the bathroom in the morning, is my back just stiff, or are my muscles getting weaker? Walking down the hallway to my desk at work sometimes makes me breathe heavier. Is that my weak Pompe diaphragm, or am I just out of shape?
Knowing that I have Pompe disease makes me more focused on all of the issues I experience. How long have I had these symptoms? In my mind, I know I’ve had them my whole life.
I have two gene mutations that resulted in Pompe, so the disease will always be a part of me. It may have taken 50 years to get a diagnosis, but having that knowledge now helps me better manage my symptoms. I’m looking forward to what’s next “On the Road to Pompe.”
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