Orphan disease fundraising finds a home at Penn’s Million Dollar Bike Ride

Hundreds of cyclists recently helped raise $1.4 million dollars to fund rare disease research. 

There’s a good chance that you will walk, run or bike to help support a cure for something this year, or perhaps you’ll sponsor someone else’s miles.  These popular events are big fundraisers for many diseases, such as AIDS and breast cancer.  And while you may have pledged money for any numer of diseases, names like Niemann-Pick disease, Pitt-Hopkins syndrome or Mucopolysaccharidoses were probably not on the list. 

Penn’s Center for Orphan Disease Research and Therapy is hoping to change that.  Back in May, the Center organized the first annual Million Dollar Bike Ride event. The goal was to raise both money and awareness for diseases that you’ve probably never heard of. 

Orphan diseases are the rarest of rare, chronic illnesses that have not found a “home” within more well-known disease groups, or within larger medical research initiatives.  Because the diseases affect so few people, there is less focus on developing drug treatments or research towards a cure.

“By definition an orphan disease affects less than 200,000 patients in the U.S.”,  explained Dr. H. Lee Sweeny, director of the Center.   

“Our center is really trying to get academic institutions to partner with the industry to bring about the creation of new therapies for these patients who really just have nothing [in regards to treatment options].”

Investigators at the Center are studying and raising research funds to promote the development of treatments for 129 rare diseases. 

Patricia Ortiz  took part in the bike ride as captain of the LAM Foundation Easy Breathers team.  LAM is short for lymphangioleiomyomatosis, an incurable disease that causes lung collapse and eventually destroys lungs. A lung transplant is the only treatment.

Before being diagnosed with LAM in 2012 Ortiz was a state and national champion cyclist, part of an elite women’s racing team. Now she uses oxygen when she trains and can no longer finish bike races.  Ortiz still participates in her team races, helping out however she can and has shifted sports from cycling to track, running short sprints.  An independent documentary film chronicled her battle with the disease.

Now Ortiz is putting the same championship drive that won cycling races into supporting research for developing treatments for LAM.  “I am really looking forward to supporting this wonderful cause.  This is why we all came together,” said Ortiz.

The May ride raised $1.4 million for rare disease research.  The Center for Orphan Disease Research and Therapy plans to make the fundraiser an annual event.