My name is Brad and I have Pompe disease. It's no joke. It's progressive, debilitating and cruel.
Pre-pompe, my health and activity levels were normal. I was playing golf, racquetball, things like that. Really had nothing much to complain about. In retrospect, even as a child, I was never able to do a sit-up and my posture was poor. Both of those would have been early signs. I was also misdiagnosed with asthma. All of those symptoms were as a result of poor core strength due to Pompe disease.
My diagnosis took four years and started when we were trying to make sense of some blood test results. My breathing symptoms were also thrown in the mix. I was tested for everything! I had too many appts, with too many doctors, filled too many test vials, and got pretty tired of it. Every answer was the same - negative. Okay good, I don't have that disease, but give me a break! How hard can it be to figure this out?! It was frustrating. I honestly gave up the search. I ate right, got lots of exercise, all the basic stuff. That's all I could control.
My specialist's office called and asked me to come in. I live in a different city that's over 4 hours away, so I remember thinking "what a drag", but I went anyway. I had no idea they had a diagnosis. I thought it would be another appointment that comes and goes and leaves no sign that it ever happened. Not this one. Once they started discussing the progression, and all the bad things that will (can) eventually happen, my brain essentially turned off. It's far easier to just think, "that's not going to happen to me".
I went for a couple years feeling quite good and assuming it would stay that way. It was fortunate that I was diagnosed prior to having significant symptoms. I was playing squash, steering a dragon boat and thinking that I'm one of the lucky ones that isn't affected too badly. I knew that my condition was progressive though. I learned to coach because I knew I wouldn't always be able to steer.
With a lot of disappointment, I eventually gave up steering. Steering, incase you don't know, is a physically demanding job with a great deal of responsibility. You stand at the back of a boat filled with 22 people and are responsible for their safety. When I was strong, I was up to the task, but it just became too much. Over the course of a year, I gave up most physical activities. My lung capacity was dropping at a rate of about 7% per year. My right diaphragm became paralyzed. My breathing was so bad that I struggled to sleep and was fatigued all the time. I started using a respirator when I was sleeping.
The disease was progressing at a scary rate. I had been told that I was about two years from requiring mechanical ventilation. I knew I wasn't good, but that was hard to hear.
My doctor and I had discussed Enzyme Replacement Therapy (Myozyme) a number of times. We first discussed it shortly after diagnosis. I wasn't interested because, hey, I was pretty healthy and this disease wasn't going to get me! She also thought the chance of it being approved at that time was slim. There wasn't a lot of information out there about it for adults. We eventually applied for funding in the fall of 2009. It was easy to see my progression at that time. I was pretty scared. I was feeling worse all the time and my breathing tests supported that in black and white. During the approval process (which took about 7 months), the LOTS study was issued (Myozyme for adult-Pompe patients), and there was more information coming out all the time. My treatment was approved and I had my first infusion May 27, 2010.
During that approval process, the amount of support that I was getting was amazing. My family and friends were letter-writing, as were people that I had never met. I was interviewed for radio, tv and newspaper. It was amazing.
After three months of Myozyme, my vital capacity (lung volume) increased by 7%. The next three months it held constant. That was a huge win! That meant that I wasn't deteriorating. Even just halting the deterioration itself would be huge. That exact number isn't the most important thing. The key thing is that I'm not deteriorating when taking Myozyme.
My life has changed a lot the past few years. I've had some really tough days but they've been replaced by bi-weekly infusions of Myozyme. It's hard to explain how a person with a progressive disease would feel but it's not good. I've been given a gift. It's like they put optimism in that infusion. To say that it has changed my life, that it's given me reason to be optimistic, to look to the future instead of wishing for the past - any of those things, doesn't come close to what it has done.
The only thing that I wish for is that other people are given the same opportunity that I have, that they are treated with respect and compassion. Nobody should have to struggle to be given a life-saving treatment. It's just not right.