“I have a lot of reasons right now to feel positive about my future. One of those is the care I’ve received from the team at Penn.”
A New Reason to Hope
When Edward Jackson was diagnosed with hypertrophic cardiomyopathy (HCM), he was both devastated and relieved.
HCM causes the heart muscle to become abnormally thick, making it harder for the heart to pump blood. This can lead to a number of complications, including heart failure. It often goes undiagnosed because many people feel mild symptoms, or no symptoms at all.
But Ed knew something was amiss.
He had experienced shortness of breath, chest pains, a racing heart rate, and high blood pressure for years – with no clear answers. In fact, his HCM wasn’t uncovered until his family doctor detected a heart murmur in 2018 and recommended an echocardiogram.
From the results of the echocardiogram, Ed’s family doctor diagnosed him with obstructive HCM. This means the muscular wall between the bottom two chambers of the heart thickens and blocks blood flow out of the heart.
After all the times Ed had asked himself and his family doctor what was wrong with him, there was a part of him that was grateful to finally have an answer.
“I’d been feeling bad for years,” Ed says. “All this time it was misdiagnosed as anxiety, which is frustrating because anxiety is a symptom for a lot of people with HCM.”
The Power of Exceptional Providers
Ed’s family doctor referred him to a cardiologist near his home in Delaware. He learned he would likely need open heart surgery and that he needed to find a more qualified specialist.
Ed turned to the Hypertrophic Cardiomyopathy Association (HCMA), a 25-year-old nonprofit that supports patients and families with HCM and funds research into treatments. The HCMA connected Ed to the Penn Center for Inherited Cardiac Disease, run by Dr. Anjali Tiku Owens.
Ed scheduled his first appointment at the Center with Dr. Kenneth Margulies. “Right away, I felt a lot better emotionally,” Ed says. “Facing the prospect of open-heart surgery had been terrifying. But then to be in the care of a cardiologist like Dr. Margulies was reassuring. And my gratitude spread to the nurses and support staff at the center. From day one, I felt like I was in the right place.”
HCM is usually passed down through families. If a parent has HCM, their child has a 50 percent chance of carrying the genetic mutation for the disease. Ed, who’s 43, was not aware of a family history of HCM.
Dr. Margulies told Ed that he wanted to explore certain medications before considering surgery. But before they had a chance to form a treatment plan, the opportunity arose in January 2019 for Ed to enroll in a clinical trial at the Center for a new drug to treat symptomatic obstructive HCM.
“It seemed like the way to go,” Ed explains. “I still did a lot of soul-searching because I’d never participated in a clinical trial before and wasn’t really sure what to expect. But after talking it over with everyone at Penn, I decided to participate.”
The clinical trial was a double-blind study: neither the participants nor the researchers knew which treatment the participants were receiving. Ed was never officially informed that he was given a placebo, but he’s fairly certain he was.
“I went in with very high hopes that I was going to feel a lot better, but I didn’t feel any different,” he says. “Still, I felt very well taken care of at Penn throughout the entire trial.”
A Reason to Hope Again
The drug that was being tested was eventually made available to all of the participants in the clinical trial at Penn through a long-term extension study.
Ed enrolled in the long-term extension study. He’s been taking the drug since August and says that his condition over that time has improved “dramatically.”
“My obstruction has shrunk. There’s still some obstruction, but the difference in how I feel is night and day,” Ed says. “I’m doing so much more now than I’ve been able to in recent years.”
Prior to his participation in the study, Ed says his HCM had progressed to the point that he was constantly missing work or leaving early. Stress permeated every aspect of his life and was increasingly impacting his wife, too.
After seeing Ed’s marked improvement, their anxiety has eased. And Ed has tried to adopt an optimistic mindset.
“The study will last for another four and half years. So I’ll continue taking the drug and getting regular checkups at Penn for at least that long. And then, who knows?” Ed says.
“But I have a lot of reasons right now to feel positive about my future. One of those is the care I’ve received from the team at Penn.”