A voice of hope grows louder

That’s the message Holly (Pullano) LaPrade ’06 spreads to the small community of people who, like her, are living with fibrodysplasia ossificans progressiva (FOP), an ultra-rare genetic bone disorder that causes their bodies to form new bone outside their normal skeletal system.  
 
Once formed, the bone is irreversible and leads to joint stiffness and loss of mobility. The condition, which afflicts one or two people per million, is progressive, and there is no cure. 

But there is hope, and LaPrade played a large part in generating that hope when she participated in a three-year clinical trial for a drug that shows a great deal of promise for those living with FOP. 

The drug, formulated by Ipsen, is called palovarotene. It currently is undergoing FDA priority review for use in the U.S., and Ipsen hopes to get approval by December. The FOP drug is already available in Canada, and other pharmaceutical companies are working on similar drugs. 
 
LaPrade is finding that her story resonates with the young adults who join her for a Zoom chat session once a month. “That community is really important to me. Having a rare condition can make you feel very isolated, so knowing there are others out there going through what you are means a lot,” she said. 
 
Now 42, LaPrade had no symptoms until age 16, which is unusual for FOP patients. She was able to enjoy her years at Quinnipiac, where she earned a journalism degree and went on to oversee the marketing initiatives at Banton Construction in North Haven, a business owned by her family. She is also a freelance journalist and has written articles for various publications throughout Connecticut. 
 
Over time, she began to experience occasional and painful FOP flareups as bone formed in connective tissues and affected her ability to move freely. She was careful not to fall or bump into walls or other obstacles to avoid flareups.  
 
Surgery to remove the unwanted bone is not an option, she explained, because the body would identify it as a trauma, which would trigger more flareups and bone formations. Similarly, she is not able to be vaccinated against COVID-19, flu or other viruses because an intramuscular injection could trigger a flareup.  
 
She married her husband, Tim, in 2012, and life was happily status quo, more or less. “And then I woke up one September day in 2016 with a really bad limp, and it got worse, affecting my ability to walk,” she recalled. The flareup began in one hip and spread to her knees and other hip, so she decided to prepare for the worst by purchasing a motorized wheelchair, a walker and a cane, and making adaptions to their home. 
 
“I had a caregiver come in for showers, and I was not able to drive. I lost a lot of things people take for granted, and all at once. It has been difficult to accept all of the changes that have occurred,” she said. 
 
She called her doctor at the University of Pennsylvania, where FOP research has been ongoing since 1989. “He told me the first clinical trial for FOP had just gotten underway there and asked if I’d be interested in participating, as the timing seemed ideal.”  
 
LaPrade elected to enroll in the trial and took palovarotene in pill form daily for three years. She estimates that she made the trip to UPenn in Philadelphia about 20 times for CT scans, MRIs and X-rays. “It was a big commitment that consumed a lot of time and energy,” she noted. 
 
During the second phase of the trial, LaPrade learned that she was in the group receiving the drug and not the placebo. She had an inkling, as she was noticing some improvement. Her husband spotted it, too. “He said, ‘You are moving so much better’ and it seems like I keep getting better, although I should be getting worse because it’s a progressive condition,” she said. 
 
She has donated her assistive devices to a charitable organization and feels fortunate that her condition has remained stable since 2019. The drug’s side effects were minimal, and if she were to experience another significant FOP flareup, she thinks she would give palovarotene another chance.  
 
LaPrade works from home to minimize exposure to COVID-19, although she had the virus this past spring, thankfully with mild symptoms. Sharing her remarkable story to inspire people with FOP and other rare diseases is important to LaPrade, but she also shares it with medical students. Quinnipiac’s Alumni Affairs team introduced LaPrade to Carolyn Macica, professor of medical sciences at the Frank H. Netter MD School of Medicine, whose research focus is on rare metabolic bone diseases. 
 
Macica invited LaPrade to be a panelist at Quinnipiac’s annual Rare Disease Day symposium. Celebrated internationally, Rare Disease Day raises awareness about those who suffer from more than 7,000 rare diseases that affect over 400 million people. Macica coordinates the symposium with several faculty members. Subsequently, LaPrade’s parents, Frank and Maureen, created the Pullano Family Endowed Fund for Rare Disease Education and Research. Macica looks forward to the day when QU students will be able to engage in evidence-based research on rare diseases. 
 
Read about this year's Rare Disease Day
 
LaPrade also has spoken to Macica’s first-year medical students several times about the emotional impact that comes with having an ultra-rare disorder. “In addition to discussing the pathology of her disorder, Holly also offers a hopeful message about her advocacy work and that of her family, who have hosted fundraisers that I’ve attended. It’s been inspirational to interact with all of them,” Macica said. 
 
Her students are extremely appreciative of LaPrade’s efforts to educate them. “It’s one of their first patient interactions. They ask her about her resilience, and sometimes she gets emotional, and they automatically connect with this real patient with a real history and a real story,” Macica said. 
 
Outside the medical community, LaPrade shared her story with lawmakers in 2016 at the state Capitol. In recognition of her efforts, the Legislature established the first annual day of awareness in recognition of Fibrodysplasia Ossificans Progressiva in November 2017 to bring attention to the rare disorder. 

“I participate in these efforts because it’s important to spread awareness not only of FOP but of rare diseases in general,” she said, remarking that research also can help more common conditions. “FOP in particular gets so much attention because it’s a bone disease. Think of how many bone conditions there are out there, from osteoporosis to veterans who have lost limbs,” she observes, adding: “If we can find a cure for FOP, it could help countless others.”  

Dr. Frederick Kaplan, co-director of the Center for Research in FOP & Related Disorders at UPenn, told LaPrade that if palovarotene is shown to consistently stop the growth of new bone, surgery could be an option for her. 

Lifting her left arm to demonstrate her point, she said: “I cannot straighten this arm, it’s locked at the elbow from a flareup. Dr. Kaplan says there could be the tiniest piece of bone preventing me from moving it, almost like a dot of glue. If we can get rid of that bone, I would be able to move it again.”   
 
It’s in LaPrade’s nature to nurture hope, for herself and for others. As Scottish philosopher Thomas Carlyle said: “He who has health, has hope; and he who has hope has everything.”