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.”
Note: Pompe Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Pompe Disease News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Pompe disease.
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Comments
Brenda
Thank you so much for your newsletter and sharing. I found it looking up my symptoms online. I've been searching for answers for probably ten years as to why my legs and arms are getting weaker and weaker, why I have extreme fatigue, and why I can no longer do housework because of shortness of breathe and fatigue and feeling like I've been hit with a mac truck after I do any mild activity. I have great trouble doing stairs and it's like you described. I use my strongest leg to bear weight and basically drag the other one along. I also have to have something to hold on to to pull myself out of chairs, etc. My ankles are weak as well and just give out causing me to stumble or fall.
I've seen every other doctor but a neurologist so that's my next plan. I know late onset Pompe disease is very rare so if I asked to be tested, they may laugh at me! However, I have a cousin on my mother's side that was in a wheel chair his whole adult life. I never did understand what was wrong with him. Maybe he had a muscular disease.
I'm now 62 but have been searching for answers since I was 52. You're an inspiration no matter if I get a diagnosis of Pompe or not. No one wants a diagnosis of Pompe but at least a diagnosis of Pompe or something gives you some peace and lets you know you're not crazy! But yes, I too go through "Is this just old age or another symptom of something?"
Thanks again for being inspirational!
Dwayne Wilson
Hello Brenda, thank you for the kind words. Glad you found my column and hope you enjoy following along with my journey living with Pompe disease. It helps to be a part of a support group and to be able to talk to someone that knows what it is like to feel the way we feel. Wishing you all the best. If you ever make it out to Southern California be sure to let me know. Have a fabulous week.
tina beland
Those same symptoms aligned with what I was doing throughout the years along with going up stairs one step at a time, not being able to get off the floor as time went on. Sadly, at 56 I was diagnosed and 4 years later my brother who is a firefighter was diagnosed. This disease is cruel, affects every being of your body from breathing and movement to just trying to put on your underwear. But, you gotta keep up the good fight.
Dwayne Wilson
Hi Tina, thanks for reading my story. Sorry to hear Pompe got you and your brother. Stay positive and have hope. Better treatments and outcomes are just on the horizon. I am looking forward to learn more about gene therapies and next generation treatment for Pompe. Hope you are your brother are doing well. If you ever find yourself in Socal, let me know. Have a wonderful week.
Hollace
Dwayne - thank you for sharing your story. It sounds very similar to mine. I’m sorry that you are going through this too, but it’s helpful to hear other patients’ stories. . I was diagnosed at about age 50, and I knew for a long time that I could never quite keep up with the physical activities that a lot of my family and friends did. I’m sorry about your back pain. I have the exact same thing, although it’s hard to get my adult children to understand where it’s coming from, and that it just doesn’t go away “if only I would exercise more”. I use a chiropractor and massage therapist, although the latter can be costly and it’s not easy to find a good one where I live.. I find them both helpful, but I’m lucky if I have a few pain free days a month. I also have been diagnosed with fibromyalgia, which I’ve learned is more common in people with Pompe’s than the general population. When I met a specialist several years after I was diagnosed, she saw me walk and said that she didn’t even have to see my test results - she said it was the “Pompe shuffle”, in a nice way. I kind of feel like I walk like a penguin. I get my infusions regularly, and I try to be optimistic. There was no treatment when I was diagnosed. I had to wait about eight more years for that. I do believe that it is helpful, and I’m grateful that there is something to slow down the progression of the disease. Thank you again for sharing!
Dwayne Wilson
Hello Hollace, thank you for reading my column. After writing and sharing my journey more, I have heard that it is similar to alot of patients. The waddle like a penguin or the gorilla walk leaning backwards with arms back and stomach out is so characteristic of Pompe. Wishing you all the best. If you are ever in SoCal drop me a line. Have a wonderful week.
Hollace D.
Thank you for responding to me. My biggest problem is finding physical and occupational therapists in my area that know anything about this. I pull muscles so easily and I’m worried about trying to do things that might injure my muscles, tendons (I’ve already had problems with that in my shoulders, biceps, and back). Do you have any suggestions about how to find practitioners who know about this? I appreciate any info. Thank you and good luck on your journey.