Friday, April 5, 2013

Time=Lives Story of the Week: Sienna Otto

“Sienna can’t plant a flower, or skip, or twirl like a ballerina, or even hold her mom’s hand when they walk. But since Sienna can’t plant a flower herself, we’re going to do it for her…and in doing so, we’re going to save this little girl’s life.”

Fibrodysplasia Ossificans Progressiva or F.O.P. is an extremely rare genetic disorder where bone forms unexpectedly within muscle and other soft tissue. Over time, this can cause joints to lock-up and leave them unable to move. So, F.O.P. is often referred to as “stone man syndrome.”

Although two-year-old Sienna Otto was diagnosed with F.O.P. in 2012, neither Sienna nor her family have let this rare disorder affect their positive outlook on life. Sienna loved to plant flowers outside with her parents, however, F.O.P. makes it impossible for her to lean down to the ground and kneel to the grass. So, with the help of their friend Natasha Lam O'Rourke and her Boston-based advertising agency, Connelly PartnersSienna's family started Sienna’s Flower Garden (@CureSienna), a virtual garden where each donation is recorded as a digital flower. All funds go towards finding a cure for F.O.P. for children like Sienna. 

According to the International Fibrodysplasia Ossificans Progressiva Association (IFOPA), only 1 in 2 million people have F.O.P., and there are less than 200 confirmed cases in the United States. Three principle researchers and 15 fellows, students, and assistants make up the only dedicated F.O.P. research lab in the country at the University of Pennsylvania. Approximately $1.5 million dollars is spent on research each year - 75 percent of which is comprised of family and patient fundraising and donations. 

Unfortunately, F.O.P. is typically misdiagnosed by doctors because it is so rare. Misdiagnosis of the disease leads to greater pain and suffering of patients because unnecessary biopsies or other tests cause the body to create more bone rather than regenerate tissue. To date, Sienna’s Flower Garden has raised more than $50,000 and continues to be an important resource for families and patients.

There are nearly 7,000 rare diseases affecting ~30 million Americans, which means almost one in ten Americans is suffering from a rare disease.  Traditionally, rare disease research has been relatively siloed, with limited communication between and across research organizations. However, increasingly patients, their families, and the disease-specific organizations that serve them are starting to work together towards the ultimate shared goal of finding cures.

See more stories about the power and promise of medical research to improve and save lives, and tell us why it matters to you. Visit FasterCures’ Time=Lives campaign for more information.

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