Apr 14, 2022 6 min read

Six years ago, Daniel Price, who was born with hemophilia, wondered if he would be able to play with his children, or continue his career as a paramedic.

Despite twice-a-week infusions of a clotting protein to prevent hemorrhages, years of internal bleeding severely damaged the cartilage in Price’s left ankle, causing excruciating pain and crippling joint disease.

But in 2017, Price, 50, participated in a gene therapy study at University of Pittsburgh, where he received one gene therapy injection at UPMC-Montefiore as part of a clinical trial. It was life-changing.

“It gave me my life back,” said Price, a paramedic and senior supervisor at Peters Township Ambulance Service. “For me, the most important thing is that I can have fun with my two sons now.”

Price was diagnosed before birth with a severe form of hemophilia, Hemophilia A, which is caused by the lack of a blood-clotting protein called factor VIII.

It is the most common type of hemophilia, and affects about 1 out of every 5,000 males worldwide.

Because Price has extremely low levels of factor VIII, he is prone to spontaneous bleeds.

Since he underwent the gene therapy, Price has not had a single bleeding event. His need for regular injections, so far, has been eliminated.

Results of the study that Price took part in were published last fall in the New England Journal of Medicine. The study involved researchers from across the world, including Dr. Margaret Ragni from University of Pittsburgh.

Of the 18 patients who participated, all but two were able to produce their own factor VIII. Overall, the men in the trial demonstrated a 91.5% reduction in bleeding episodes.

“It is wonderful, no question about it,” said Ragni. “It is a game-changer. For Dan, he is hugely better off in the sense he can go to his job every day without thinking, ‘Do I need to infuse myself at 5 a.m.?'”

The treatment has not yet been approved by the U.S. Food and Drug Administration, but Ragni is optimistic that other hemophiliac patients could have access to the therapy in the near future.

“I think it would be safe to say we anticipate there might be approvals later next year,” Ragni said.

Price spent his childhood and his adult life trying to remain as active as he could, but contact sports were off-limits.

His parents drove him regularly to Children’s Hospital in Pittsburgh, where he received infusions and other therapies to treat the genetic disease, which is passed from mother to son.

Price participated in marching band, worked in the fields on his family’s farm, and became a firefighter.

“I decided I was never going to be a lump, just sitting around,” said Price. “I had problems, though, and in my 20s, every two or three months, my left ankle would swell and I’d lose mobility and the pain would be agonizing. When I was a kid, there were nights I’d wake up with my knee the size of a basketball. But my target joint as I got older was that left ankle.”

Before scientists developed factor concentrates, the life expectancy of people with hemophilia was low. Until the 1960s, life expectancy for a person with severe hemophilia was 11 years old.

The hemophilia death rate spiked in the 1980s from the impact of the HIV-AIDS and from therapy-associated hepatitis infections.

When he was in his 30s, Price contracted hepatitis C through a blood donation, which he later recovered from.

By the time Price was in his 40s, the pain in his ankle regularly woke him up at night, and doctors considered fusing his ankle.

“I was in pain 24/7,” said Price. “Walking up the stairs or getting out of a chair was challenging.”

He continued giving himself infusions of factor VIII to alleviate the pain – and at one point, he enlisted one of his co-workers to assist with the infusions.

Then, in 2017, the Hemophilia Center of Western Pennsylvania contacted Price to see if he wanted to be a part of a new gene therapy study.

“I said, ‘When and where? I’ll go now,'” recalled Price. “I had reached the point where I was wondering how I was going to continue working, the hemorrhages were getting so bad.”

Price said the procedure lasted a total of 30 minutes.

“I had packed a bag, expecting to stay overnight, and 30 minutes later they told me, ‘You can go home.’ I didn’t have a single side effect, and I haven’t had to treat myself since,” he said.

Advancements in treatment have increased the life expectancy and the quality of life for hemophiliacs.

“In the last probably five years or so, there’s been a cornucopia of novel therapies,” Ragni said. “It’s an exciting time in terms of scientific discovery and novel approaches. I think what’s very exciting, in addition to the benefits for patients with hemophilia, is the possibilities these discoveries present for other inherited diseases, such as cystic fibrosis.”

Price is reaching the end of the five-year study. While the gene therapy cannot reverse the joint damage caused by Hemophilia A and his ankle gets sore at times, he continues to produce factor VIII.

He has taken family trips to Walt Disney World, Universal Studios, and Williamsburg, Va., where he walked for miles with his wife, Stacey, and their sons, Samuel, 10, and Noah, 7. He’s gone on hunting and fishing trips with the boys, too.

Price recalled a trip he took with the family to the Columbus Zoo before he underwent gene therapy. On that trip, he forgot to pack his medication and, after spending the day walking around the zoo, he awoke in pain at 3 a.m., ankle swollen, and had to drive to the hospital for treatment.

“If I hadn’t done the gene therapy, I’m not sure if I’d still be physically able to work, and I wouldn’t be able to be the dad that I want to be,” said Price. “That’s the most important thing to me, spending time with my boys.”

Price said he wants the gene therapy to be available to other hemophiliacs.

He said he sometimes worries that the treatment is “too good to be true.”

“It’s been five years, and there’s a fear in the back of my mind that it isn’t going to last,” said Price. “It has been fantastic and I’m so happy with how things have turned out.”