I feel it is important to “put a face” on Pompe Disease. I have been fortunate enough to connect with other Pompe patients and hear their stories. And now, I would like to start sharing their journeys with you. While you may be saddened by their circumstances at first, you will soon become inspired by their spirit as you discover we really can FIGHT POMPE!
First up in this series is Brad, who I met through Facebook when he was fighting for government approval to receive enzyme replacement therapy. I asked him to be my “guinea pig,” because he has an amazing story to tell and an even more amazing outlook. Brad is always up for helping to spread awareness of this extremely rare disease, so I figured the chance of him turning down my interview request was slim.
Name: Brad Crittenden
Location: Penticton, BC, Canada
When were you diagnosed with Pompe: Jan. 2006
What symptoms did you first experience?
I was told for years that I had asthma but, no, it was Pompe! I’ve always had weak core muscles. Even as a kid, I struggled to do a sit-up, but I just thought I was lazy. I guess that was just a coincidence! Because the changes are so gradual, I had no idea I wasn’t “normal”. I remember the daughter of a friend was sitting on my lap once and we were doing homework. She said to me, “Uncle Brad, why do you walk funny?” Kids are so darn honest!! I didn’t even know I did.
How long did it take to get a diagnosis and what conditions did they think it was before Pompe?
It took about four years to get diagnosed. I was never given any diagnosis to that point, other than asthma, but I was tested for many possibilities. We only figured this out because my doctors were diligent. They said they just had a few remaining, very rare, things to test for. I remember them calling and asking me to come in. I had gone for so many appointments, each time being told nothing, that I said to myself, “This had better be something serious, because I’ve had it with all these appointments!” I guess someone was listening!
- That is Brad in the big yellow hat.
How has this diagnosis changed your life, have you adjusted any of your long-term or short-term goals?
I can deal with the muscle weakness I have now. I’m not in a wheelchair and I can get around well enough. I’ve had a lot of trouble with energy because of lack of sleep. That has affected my ability to work, and that’s a drag. The biggest change that I’ve had to get used to is strapping on a respirator so that I can breathe when I lie down. That’s a bigger drag. My diagnosis and fight has been hard on my family and friends, and it has changed their lives as well.
There’s good and bad about everything. I’ve got really good people in my world and I’ve met a lot of them because of Pompe. I’m more informed and aware. The best thing is that I don’t have to move furniture anymore!
It’s funny to think about long and short-term goals. Prior to the time I was diagnosed, I had decided to take more control of my health. I was weary from talking to doctors, that honestly, had very little to say. That’s not their fault, but that’s how it was. The diagnosis didn’t change my goals and I didn’t believe that Pompe would change me. But then the disease progressed. My breathing got so bad that I couldn’t sleep much. I knew it wasn’t good. I’m well-aware of the prognosis and my progression. Hearing a doctor say that I was two years from being ventilated was sobering, and probably optimistic. At that point, I no longer had long-term goals. When much of your day is focused on something as basic as breathing, it makes the things that we usually think about seem pretty distant.
Since being treated and feeling a bit better, my outlook has changed. I’m not feeling worse than I was three months ago, and I haven’t been able to say that for a long time. I don’t think of long and short-term goals separately. They’re just goals for me and I approach them with more optimism since ERT. I have personal goals and bigger goals. Personally, it’s to fill my life with things I enjoy and give the ERT a chance to provide opportunities. More importantly, help as many people as I can have that same chance.
What are some of the things you like to do?
I used to enjoy racket sports and steering a dragon boat. I had to give them up, but I decided to coach dragon boating while I was still in the sport. I still do that. It’s not the same as being in the boat, but exciting to help others enjoy it. I have a great team that tolerates my jokes! I’ve always been techie so was drawn to website design years ago and still do that. I’m Canadian so I love hockey!
Brad's first ERT treatment.
How long have you been receiving enzyme replacement therapy (ERT) and what, if any, improvements have you noticed?
I have been receiving ERT bi-weekly since May 27, 2010. I honestly feel like I have more energy, but that’s subjective. I like to see measurable things. I know my blood oxygen has improved, which makes me think the energy improvement isn’t just in my head. I’m due for a pulmonary function test shortly which I’m very eager for.
What was your approval process like for ERT?
In Canada, we have public healthcare, which is administered provincially. That means there are funding differences between provinces – there are a lot of things that are unfair and make little sense! There is a body (CDR), funded by all provinces, that evaluates effectiveness of drugs. The provinces use those recommendations when processing a request for something like ERT. Back in 2007, the CDR recommended funding of ERT for infants but made no recommendation for adults. Even by people who should know better, that decision has been read to mean they recommended against funding it for adults, which is incorrect.
ERT has been approved in all provinces in Canada for infants, however, when I was applying for approval, it had only been approved in two other provinces for adults. In British Columbia (BC), these requests go through a review process by an Advisory Committee (doctors, pharmacists, economists, ethicists, etc.). That committee makes recommendations to Pharmacare (the government), who then decides if it will be approved. That process took about 7 months in my case, and during that time my pulmonary function (breathing) dropped another 10%. I was the first Pompe adult approved in BC!
Outside of that process, because the patient has no access to it at all, we (a lot of people!) did take the opportunity to do a few things to increase awareness and apply some political pressure. I was interviewed by radio, TV, and newspapers. I was in constant contact with my MLA (Provincial Rep). A Facebook group was set up for me by a friend who also has Pompe. And a letter writing campaign was started which resulted in a lot of letters being sent to the Ministry.
I was contacted three times by the top official in the approval process. That is almost unheard of. These are very busy people. I do honestly believe that they wanted to do the right thing and I hope that other jurisdictions do the same thing.
What advice do you have for other Pompe patients?
Be your own advocate. Be your best friend, but lean on your friends and family. Use the people that are in the same situation as you for help, that’s us! Reach out to the groups who are there specifically to help people like us. There are many groups, like Muscular Dystrophy, Rare Disease organizations, etc. You are not the first person to go through this process so use our experience, and then pay it forward!
Don’t believe everything that you’re told. Ask questions! There is more being learned all the time. Don’t let the disease define who you are. You are not a Pompe patient, you are a person that has Pompe.
What do you want people to know about Pompe Disease?
Pompe disease is one of many rare, but devastating, diseases. It doesn’t just affect patients, it affects families and friends. We are very fortunate though, because there is a treatment! We have a moral responsibility to provide it, and a responsibility to foster research by funding it.
Is there anything else you’d like to share?
Being diagnosed with Pompe is a double-edged sword. It’s certainly not good news, but it’s necessary to be able to move on and tackle its challenges. We are incredibly fortunate that so many people worked tirelessly to develop a treatment for us.
If you would like to be featured in one of my “Patient Profiles” or would like to recommend someone to be featured, please leave a comment.