Research into Pompe Disease gives patients a new lease on life
By D.F. McCourt
Published in The Toronto Star, February 24, 2022
Seeing Ian MacPherson laughing and playing with his daughter Payton, he is so clearly full of life and brimming with love, optimism, and vitality.
He’s a big music guy and a diehard sports fan, always keen to talk about his beloved Miami Dolphins. Most importantly, however, he’s a doting father excited to see what comes next for his perfect little family. But the future isn’t something that Ian has always looked to with such hope, if he felt he could look at it at all.
Diagnosed with Pompe disease as a child, Ian lived most of his life haunted by the knowledge that this progressive condition would slowly rob him of his strength and independence before eventually overcoming him completely.
A clear and consistent decline
“One of my earliest memories of understanding the disease is being at SickKids and overhearing a conversation about two other Pompe patients,” says Ian. “One was in a wheelchair at 21, and the other they hadn’t heard from in a while. The doctors were assuming he had passed away. He was 23. So, at a very early age, I knew my prognosis included a wheelchair and, likely, an early death. I never expected to see my 40s at all, let alone be a father.”
This foreknowledge gave Ian an early appreciation for living in the moment. Growing up in Hamilton, Ont., he was able to focus on experiencing what he describes as a pretty normal Canadian childhood in the 80s and 90s. He wore baggy MC Hammer pants from Zellers, played sports, held part-time jobs, hung out with his friends, and enjoyed a stable and supportive family life. But then, in his late teens, the disease began to catch up with him.
“Around 17, stairs started to get harder,” Ian recalls. “I had to stop working because I fell a couple of times. I didn’t go to school most of my 18th year, because I was waking up with headaches and I was always tired. Then, just after I was put on a BiPAP machine for sleeping and started to feel better, I went to a party, caught a cold, and ended up with pneumonia. I walked myself into the hospital and, close to three months later, I came out with a tracheostomy and bound to a wheelchair.”
A life-threatening prognosis
Pompe disease is a rare, genetic metabolic disorder in which a defective gene prevents the body from properly producing a certain enzyme that breaks down glycogen. Without this enzyme, glycogen progressively accumulates in the muscles of the body, causing damage to the muscle fibers, leading to decreased strength. “Pompe truly is a muscle disease,” says Dr. Angela Genge, Director of the Clinical Research Unit at the Montreal Neurological Institute-Hospital (NEURO). “But your heart is a muscle and your diaphragm is a muscle. Pompe causes weakness, it can cause difficulty breathing, and it will get worse over time.”
Though the more severe aspects of the disease had taken a while to catch up to Ian, he was very much certain that this sharp turn in his health was the beginning of the end. But a glimpse of hope came as his parents heard whispers of a treatment on the horizon. After about six years, those whispers became a reality for Ian and his family as he started to be treated and to get involved in different social activities.
“I guess you’d say I just partied and really enjoyed myself for a number of years just to get all that in,” he recalls. “I’ve been very lucky to have amazing friends who’ve always included me throughout my life. We’d go to the movies or to the bar where we would drink and dance. I’d be on the dance floor in my wheelchair. I was having a lot of fun but I still couldn’t escape the feeling that I didn’t have long to live, as I felt like I was living on borrowed time. A lot was still unknown.”
Making a lasting impact
Research into the disease was ongoing and medical advancements were being made, although access to new life-extending innovations for all patients was far from a certainty. Knowing others with the disease were growing weaker and passing away, even as new approaches to managing the disease were becoming possible, Ian realized there needed to be a loud and unified patient voice advocating for change. And so the Canadian Association of Pompe (CAP) was born.
“When I helped form CAP, it wasn’t about me, it was about everybody else,” Ian says. “I reached out to all of the other Pompe patients within Canada — I believe there were seven of us at the time — and we organized our first official meeting in Toronto. We advocated throughout Canada. It was definitely a slow process — a lot of meetings, a lot of time, a lot of news, radio interviews, stuff like that. There I was, at 25 years old, dying, and still advocating.”
New beginnings for those who never expected them
The fruit of CAP’s labour is now changing lives across Canada, including Ian’s. The prognosis for people diagnosed with Pompe disease today is radically different than it was not that long ago. The credit for that lies with the researchers and clinicians who never gave up hope for potential treatments, and also with the advocates, like Ian, who have worked so tirelessly to ensure that Canadians would have access to them. “It’s one of the best examples of how much things can change with the development of new therapies,” says Dr. Genge. “To have treatment options for Pompe disease is tremendous and research is ongoing. It’s really quite a miracle.”
Today, Ian is working on building a new career, considering going back to university, and dreaming of owning a cottage one day. And, since Payton came into his life, he has been especially diligent about exercise, as he works to build and maintain his strength. “I’m trying hard and really looking forward to doing the best I can for her,” he says. “She’s a lot to keep up with. She’s almost at the point where she’s stronger than I am now.”
In all of this, there’s a dramatic shift in the way Ian thinks about the future — perhaps most significantly that he’s able to think about one at all. “One of the hardest parts of this journey for me is that I never planned a future,” says Ian. “Now that I’m in my 40s and have my first child, it’s time to plan for real. Thinking you’re on your way to dying, and then to all of a sudden having this life again, is a lot to take in. Every day I’m thankful to be here and thankful to have Payton here with me.”
If you have unexplained loss of muscle strength or difficulty breathing when lying down, ask your family doctor about neuromuscular disorders like Pompe disease. To learn more about Pompe disease, its diagnosis, and management, contact the Canadian Association of Pompe.
To participate in a study on Pompe Disease, consult our list of clinical trials or contact the neuromuscular team at the CRU.