By Jamie Williams, email@example.com
In November 2014, Paul McIntosh decided he wanted to run a marathon. He recruited a group of friends and UNC School of Medicine classmates and the group started training. Only two members of McIntosh’s team knew the true reason they were running.
The rest would soon find out.
In January of this year, McIntosh announced to his second-year class at the UNC School of Medicine that he has Pompe (pronounced Pom-Peii) disease, a rare genetic condition affecting around 1 in 40,000 people worldwide. McIntosh called the presentation, “cathartic”; the culmination of several years of questions and self-reflection.
It started routinely enough, McIntosh said. During his time as a UNC undergraduate, he came down with a case of mononucleosis. As he was recovering, he began experiencing terrible stomach pain. A trip to a gastroenterologist led to a diagnosis of celiac disease. But – his doctor explained – that didn’t account for the elevated AST and ALT levels thought to be coming from McIntosh’s liver. A liver biopsy didn’t answer that question, but offered another: levels of creatine kinase that McIntosh was told were “through the roof.” That led to an appointment with a neurologist.
At this point, he was confused and looking for answers. One he got confused him even further. A physical exam revealed that McIntosh, a dedicated athlete, showed an alarming lack of muscle strength.
“I’d played sports my whole life, been involved with boxing club, led workouts. I didn’t understand those test results at all,” McIntosh said.
But McIntosh’s neurologist at UNC Hospitals, Nizar Chahin, MD, did. He soon diagnosed McIntosh with Pompe disease. Despite the relief at finally having a diagnosis, it was not good news.
Pompe is a neuromuscular disease that is often debilitating. Due to a genetic mutation, people with Pompe disease lack an essential enzyme necessary to breakdown glycogen – a stored form of sugar the body converts to glucose for energy. Without this enzyme, excess glycogen accumulates in muscle cells, eventually causing them to burst. The muscle damage is progressive and ultimately affects movement, breathing and heart function.
Many people with Pompe will eventually end up in wheelchairs. There is no cure.
McIntosh admitted he was not familiar with the condition at the time of his diagnosis, so he did what anyone might; he looked it up on the internet.
“I just started reading everything I could find, but then I saw so many statistics, like how on average, patients lose the ability to walk at age 50 and I was projecting all of those worst case scenarios on myself,” McIntosh said. “I was driving myself crazy, so I just stopped.”
Though he admits he fought periods of anger and fear, reading about other people’s cases ultimately did reveal one thing: just how lucky he was.
“Since this disease is so rare, on average it takes 10 years for patients to get an accurate diagnosis and by that time the condition has progressed to a point that treatment can only do so much,” McIntosh said. “I’d received my diagnosis in less than two years, and was still relatively healthy.”
He was ready to take control of this disease.
McIntosh began treatment, which his doctors said would slow the progress of Pompe. Every two weeks, a home health nurse prepares and administers an enzyme-replacement therapy, which McIntosh receives intravenously. The process can take up to six hours and will continue for the rest of his life.
He became connected online to a community of others who share his condition, posting well wishes and advice on Facebook. He attended patient conferences to learn more about the disease and the latest treatment methods.
He began shadowing his doctor, and was moved by the way Chahin’s patients trusted and admired him. McIntosh decided he wanted to live up to that and become a neurologist and patient advocate. Chahin has since left UNC, but the two keep in close contact.
“I knew that I wanted to go to medical school, but I really wasn’t sure what path I wanted to take, no idea what I wanted to do after that,” he said. “Pompe has changed that and now I have a passion for neuromuscular diseases.”
That led him to reveal his diagnosis to his classmates.
“Honestly, my condition is something I could probably hide. Physically, I don’t think anyone would really notice anything was different about me,” McIntosh said. “But, how can you be a patient advocate if you’re hiding your own diagnosis?”
On the day of the presentation, he said he felt nervous, but also ready to finally tell his story. He had another announcement, as well. He wanted to run a marathon, a way to raise money for others with Pompe, others who are in much worse shape than he is.
“I’m running for people I’ve met who are suffering from this disease,” he said. “I’m blessed to be able to have the physical strength to run, while others I’ve met can’t walk at all.”
He said the response has been overwhelming, both from his classmates at UNC and from people around the world.
“I’ve gotten texts, emails, Facebook messages from my classmates and people I’ve never even met who have Pompe,” he said. “My Pompe family has been with me every step of the way. They tell me they’re inspired by my courage. I’m inspired by theirs.”
As of February 24, he has raised nearly $9,500, which he plans to donate to the United Pompe Foundation to help other Pompe patients with expenses related to their care.
Paul laughs when he talks about getting medical clearance to run the marathon.
“I wasn’t really going to take ‘no’ for an answer,” he said.
That determination has carried over into his training regimen. He and a rotating cast of friends go on regular runs, slowly building endurance to finish the 26.2 mile distance of March’s race. On a recent, rainy afternoon, they completed 20 miles on the American Tobacco Trail.
“Some days, if it’s cold, or if the weather is bad, it can definitely be hard to get up and go, but I have so much motivation because I know I’m not doing this for myself,” McIntosh said.
That drive has translated to his medical studies. He speaks passionately about his position as a medical student and the opportunity he has to one day make an impact on the lives of patients living with chronic conditions like his.
He has come full circle from the patient who once couldn’t bear to read any more about Pompe, to the medical student who has spent this past summer working on research into the disease at Duke’s Pompe Clinical and Research Program. Since Chahin left UNC, Duke has also become the base of his treatment.
“I understand that I have a unique opportunity to raise awareness of this disease in the medical community,” he said. “I take that very seriously since early diagnosis is so important.”
Though he has placed a lot of responsibility on himself, McIntosh does take time to cut loose, to be a 24- year-old. He goes Bowling, shoots pool, watches sports with friends, hangs out with his girlfriend and Taz, his cat. During his six-hour treatment sessions, he says he cooks, watches Netflix and, yes, studies.
His condition, he said, has also given him a unique perspective on what’s really important in life.
“I’ve never been more stress-free, which I know is a strange thing to hear a second-year medical student say since for a lot of my classmates, this is probably the most stressful time in their lives. But, I know that one test, one grade doesn’t define me. It’s my actions, my beliefs and how I treat people,” he said.
When asked what he wants people to take away from his story, he responds quickly.
“Don’t take things for granted, focus on what’s really important,” he said. “Just be happy.”
His mentor, Chahin, said that attitude will serve McIntosh well as a physician.
“I really think Paul’s patients will be able to look at him as a role model. He’s a great person with such a positive attitude. He’s going to help a lot of people.”
The marathon is only a small part of the race McIntosh is running. The course will undoubtedly offer unexpected obstacles. But, he knows where he wants to finish and he won’t stop moving forward.