My Story
Hello, my name is John and I was diagnosed with Pompe disease in September 2016. It was only after receiving this diagnosis that I truly understood the signs and symptoms I had been experiencing my whole life.
When I first found out about my condition, I immediately turned to the internet to learn more about Pompe disease. I discovered that there is a wealth of information available, but much of it is outdated and filled with negative perspectives, often suggesting a bleak outlook for those affected by the disease.
Researching my condition:
I took this advice to heart and began researching more about the disease and its treatments. This marked the beginning of Pompe Wales. I wanted to raise awareness about living with Pompe and show that life doesn’t stop after receiving a diagnosis.
Look back at problems in the past:
Reflecting on my past, I’ve come to realize that I always had trouble keeping up with my peers. Running, for example, was never my strong suit. I understood the concept and knew what to do, but my body just never seemed to cooperate.
Physical Education class was a nightmare for me. Both the teacher and my classmates would make fun of me for struggling. I even got physically caned every week for five years because I was so bad at PE. Needless to say, it turned me off sports for life.
Simple tasks like crossing my legs or bending over to play hockey were always a challenge. Gardening was out of the question because bending over was too difficult.
Sitting in low back chairs was a pain, literally. I always struggled to support my back, causing aches and pains. Getting out of a beanbag or soft seat was like watching a comedy show.
Sit-ups? Forget about it. Getting up from a lying position was always awkward for me. I even slept in a chair for years because lying down made it hard for me to breathe. This caused some issues when I traveled for work and had to stay in hotels. I had to specifically ask for a comfortable chair to sit in, which wasn’t always easy to come by.
In bed, I couldn’t stretch my legs out without feeling pain in my hips and legs. It was a struggle, to say the least.
Accepting life’s limitations:
I consider myself extremely lucky to have an amazing wife who has been by my side through all the ups and downs of life, including my diagnosis of Pompe disease. She is not only incredibly intelligent and caring, but also the most capable person I have ever known. Without her, life would feel empty.
When I found out about my diagnosis, we sat down and had a heart-to-heart, like we always do. We decided together that we needed to accept the diagnosis and keep moving forward. Having Pompe disease definitely changes things, but recognizing and accepting our limitations has made life more manageable and less stressful.
Realising the life will be different:
I quickly realised that I needed to adjust my daily expectations.
Tired to the point of exhaustion:
Pompe disease can really wear out your muscles, making it impossible to even think about running or walking a marathon. And forget about spending the day shopping – that’s out of the question too.
Feeling tired with Pompe isn’t just your average fatigue. It’s more like getting slammed with a wave of exhaustion. I find myself needing to sit down or take a nap pretty often.
Struggling to breathe:
Like many others, I have trouble breathing when I lie down, so I use a BiPAP machine. At first, it seemed scary to have an oxygen style mask on my face connected to a machine by my bed, but it quickly became normal and comforting. Using the BiPAP feels like a power-up – after just 30 minutes, I feel refreshed, less tired, and ready to take on the world again.
Chewing and swallowing:
I noticed that eating started to become more challenging. It wasn’t the act of eating itself, but rather feeling full quickly and struggling to breathe after a meal. I soon realized that eating smaller meals more frequently was the way to go. This way, I felt less out of breath afterwards.
Accepting help:
One of the toughest things for me has been having to ask for help. It’s hard to rely on someone else when you’ve always been independent. For example, lifting and bending down are a struggle because the muscle weakness in my legs makes it hard to get up without something to lean on. So, the rule is if it’s on the floor, it stays there unless I can use a pickup stick to reach it. But most of the time, it just stays there until my wife picks it up.
This means my wife has had to take on more physical tasks that I would normally do myself. Even something as simple as getting a dish out of the bottom oven is a challenge. I can’t get it out unless I can hold onto the top of the oven or a nearby surface. And when I do manage to get it out, I can only use one hand because I’m holding on with the other.
Celebrating what you can do, not what you can’t:
Your mental and physical abilities have not changed since being diagnosed. You simply have a better understanding of your limitations. Life can feel overwhelming at times, but remember that everyone experiences this. Focus on what you excel at, celebrate your achievements, and stay positive.
A cure and/or better treatment is on its way:
There is someone working on a cure, and it will come. Every year, trials are being conducted to discover the most effective treatments and ultimately find a cure.
I’m here if you need me:
If you need someone to talk to or just a sounding board then please contact me. My email is pompewales@gmail.com,
John
Pompe Disease 