Paul is more than just willing to share his story. He wants to tell it.
He wants people to know that he pre-medicates to deal with the pain, that he plans his commutes carefully in case he has gastrointestinal distress. He wants to share how Fabry disease — caused by deficiency in an enzyme called alpha galactosidase A — has impacted the quality of life for his entire family, whether they also have the inherited disorder or are affected as caregivers.
He wants others to know, because no one would know that anything is wrong just by looking at him.
Paul wants to tell his story to one group of people in particular: to those are working on a cure.
“I want to help make a difference,” the New Hampshire resident said. “I want to share my story and put a face behind the disease, for those that either deal with it on a daily basis in the lab or even at their desk.
“Put a face to it, so that when people are having a bad day or they hit a roadblock in their studies of trying to improve treatment, or create and develop a treatment, hopefully, they can remember our story.”
Paul was growing up in Massachusetts when he noticed his first symptom: He was the only kid in the locker room who wasn’t sweating after hockey practice.
“And to me that was great, because my hockey equipment didn’t stink,” he said. He mentioned it to his mother, who said it was normal because she didn’t sweat much either. “We just thought that’s who we were as people.”
For the next two decades, Paul and his mom tried to figure out how to cure each new symptom he experienced. They thought his gastrointestinal issues were due to lactose intolerance, and that the pains in his hands and feet were caused by arthritis.
“I’ve had pain so bad where it feels like it’s running down the bones of my legs, right through my thighs and shins. And no medicine available over the counter can treat it,” he said. Paul had to give up things he enjoyed in his teens and twenties: playing golf, going to the beach, spending any kind of time outdoors in the summer.
When he developed kidney issues and doctors couldn’t discover the cause, they performed a biopsy at age 30. That’s when Paul learned about Fabry disease.
“For me, it was relief. It provided an answer to many years of suffering, pain, and GI issues without knowing what was really causing it,” he said.
“Unfortunately, I had to tell my mom and she didn’t know she had it. She got tested and she was confirmed as having it as well, and so she took that hard. She has a sense of guilt from it that I think she still has today. But I always tell her I hope she wouldn’t change what they did 43 years ago, or I wouldn’t be here.”
I want to share my story and put a face behind the disease, for those that either deal with it on a daily basis in the lab or even at their desk.”
Paul learned that the disease can impact the heart, eyes and kidneys. His nephrologist told him to try an enzyme replacement therapy that would be administered every two weeks for the rest of his life. That therapy has given him some relief, but the damage to his kidneys was too extensive and he needed a kidney transplant at age 31. In October 2018, he was able to transition to a new oral therapy that he says works for only 30 to 50 percent of Fabry disease patients. It boosts his energy and he can sweat, although his GI issues remain.
Now, Paul lives life to his version of “the fullest” — one that balances his desire to be active with his limitations. He works as an engineer and likes to golf, fish and hunt. And he participates in the Transplant Games of America and World Transplant Games.
But he would love a cure. Not just for himself but also for his family. For his mom, to ease her guilt. And for his niece and nephew, because he knows they face a lifetime of limitations, treatments, pain management, and financial burden.
“It’s clear to me that there are people in the pharmaceutical environment that want to help and are trying to help,” he said.
“We want therapy to improve, obviously, but I think the end goal for us as patients is a cure. Anyone that has an illness, obviously, wants to be cured.”