The Register Citizen (Torrington, CT)
State approves awareness day for rare disease
NORTH HAVEN — Holly LaPrade was diagnosed with Fibrodysplasia ossificans progressiva, a rare condition where muscles and tendons turn to bone, when she was 16. The news was devastating for her and her family, she said.
At first, she was private about her condition, going through high school without anyone outside her family knowing.
“To be given a diagnosis for which there is no cure or treatement, there was nothing we could do at that point,” she said. But she started fundraising for research to find a cure, since at the time, even less was known about the disease than is now.
FOP is one of the rarest diseases in the world, affecting approximately one in two million people worldwide, according to ifopa.org. It’s often misdiagnosed as cancer, fibrous dysplasia or aggressive juvenile fibromatosis.
Since FOP is often misdiagnosed, the wrong treatment can worsen the condition because trauma on the body only aggravates the condition, LaPrade said, and most other patients have gone through unnecessary interventions. LaPrade was initially misdiagnosed as having an aggressive form of cancer, but doctors learned it was FOP before she went for chemotherapy.
“At some point I realize I was given FOP for a reason, which is to use my diagnosis in a positive way so others don’t have to go through why I have or worse,” she said.
Last year, LaPrade began sharing her story with lawmakers at the State Capitol in an effort to get legislation passed for an official awareness day. Her efforts, along with others, resulted in legislation that marks Nov. 26 as the first official day of awareness for FOP, with Connecticut being the first state in the country to have an awareness day for the disease.
The mission of the awareness day is LaPrade’s personal mission, which is to educated doctors and the public about the disease to hopefully lead to more research and fewer misdiagnoses.
“Holly knows that spreading knowledge is about more than her own struggle,” state Sen. Len Fasano, R-North Haven, said in a statement. “It is about helping all those who suffer from this disease worldwide. Raising awareness is the first step to finding new treatments, better understanding the condition, and ultimately finding a cure.”
The only other person in Connecticut affected by FOP is Jasmin Floyd, who lives in Danielson. She was diagnosed when she was 6 years old, hardly knowing a life without being affected by the condition. She has been a longtime friend of LaPrade and worked to get the awareness day created by sharing her own story.
“There’s a misunderstanding with anyone with disabilities,” she said. “They’re looked down upon, so I love to have people think of a different perspective. So it’s important getting the awareness out there so people can know we’re still people, we just have different limitations.”
At this stage, Floyd’s condition doesn’t allow her to turn her head left or right, bend over, or open her jaw more then a few millimeters, she said. Despite these limitations, Floyd said she lives a fulfilling life following her passion — writing and traveling.
“Traveling gives me the most freedom and makes me feel the most independent,” she said. “If I’m traveling alone, I have to solve a problem and it’s all those little things that help me handle bigger things.”
FOP is caused by a mutation in a single gene, a discovery made in 2006 that offers hope for developing treatments and a cure. The condition worsens as a person gets older and the bone cannot be permanently removed since new bone will grow back and further impair mobility. Surgical intervention often results in the condition getting worse.
The extra bone in FOP forms by a progressive transformation of soft tissue into cartilage and bone. This is the same process by which bone regenerates after a break occurs and is nearly identical to the process by which bone forms in an embryo. The abnormality in FOP occurs in the timing and location of the bone growth.
In FOP, extra bone replaces the ligaments as well as muscles and tendons, which in turn impairs mobility. There is not cure and no treatment for FOP.
“Their bravery in confronting this condition and not being afraid to share their experiences is what propelled this legislation forward,” said State Rep. Dave Yaccarino, R-North Haven.