Imagine running 12 marathons in one year. Now imagine doing that blindfolded.
E.J. Scott, a 36-year-old patient at Penn Medicine, is doing just that. Along with his brother and nephew, Scott has a rare retinal disease called choroideremia, which destroys retinal cells and causes the patient to gradually lose peripheral vision until he or she is completely blind. In order to raise money and awareness, he decided that he would run 12 marathons in 12 months.
In 2003, a doctor told Scott that he only had 70 degrees of peripheral vision. This year, Scott visited Jean Bennett, professor of ophthalmology at the Perelman School of Medicine, only to discover that he was left with less than 15 degrees of peripheral vision and legally blind.
“I was really angry about it,” Scott said. “And I ended up being in a bit of denial about it for a while.”
But then he decided to do something about it.
In 2004, Scott found out that his sister was pregnant, and he realized that if she had a son, he would have choroideremia and if she had a daughter, she would be a carrier. The choroideremia gene is carried on the X chromosome, so if a person has choroideremia, chances are all of the males in the family will have the disease and all of the females will be carriers.
Scott explained that his sister’s pregnancy was “a big motivator” to begin his fundraising.
At first, Scott put on comedy shows in Hollywood and raised a few thousand dollars with each show. Then he decided that it was time to shed a few pounds, and thought that if he could get sponsorships to raise more money, it would be a good incentive.
This led Scott to sign up for the Chicago marathon. Because of the sun’s glare — which can cause the disease to progress — Scott decided to blindfold himself and rely on the help of a guide.
Through the race, he raised more money and also appeared on a local news station.
Because of this, he thought to himself, “If I ran 12, maybe I could get 12 times the publicity and attention for it.”
With only two marathons left, Scott has nearly accomplished his goal. Scott shares his experiences with the world via his website and directs visitors to donate to his cause. In total, Scott has raised about $100,000, and he has funneled it all into the Choroideremia Research Foundation.
CRF Operations Manager Cory MacDonald is amazed at what Scott has accomplished.
“If we had 12 E.J.s, we probably would have already funded the cure by this point,” MacDonald said.
Like Scott, MacDonald also has choroideremia, and he believes that one of the most difficult parts of the disease is lack of awareness. According to the National Institutes of Health, approximately one in 50,000 people have choroideremia, and around 6,000 people have it in the United States.
Used to the blank stares he gets when he says he has choroideremia, MacDonald is excited by how much attention Scott has brought to the disease.
“Trying to raise awareness for a disorder that the general public had never heard of and most doctors have never heard of is extremely difficult,” MacDonald said.
Another positive force in raising awareness has been Scott’s girlfriend, Deborah Ann Woll, who plays Jessica Hamby on “True Blood.” She has brought a whole new level of awareness to choroidoremia by discussing it in interviews and linking to the CRF on “True Blood” websites.
The money Scott raises is funneled into the CRF and doled out to the various research groups it supports. One of the leading groups is located here at Penn.
Bennett, who leads the Medical School’s choroideremia research, has been working on retinal degenerative research since 1993 when a 16-year-old boy who was diagnosed with retinitis pigmentosa asked if he could do research in her lab.
“He figured out that he had choroideremia, not retinitis pigmentosa, and that’s when I first became really aware of how aggressive a disease it is and how upsetting it is for these boys and men to discover they’re going blind,” Bennett explained. “It’s really psychologically terrible because they see themselves losing vision.”
Bennett’s team is currently working on a gene therapy procedure to introduce a healthy gene into the back of the eye of patients like Scott to combat the choroideremia gene. Once the team gets approval from the Food and Drug Administration and other review boards, it expects to finalize the treatment in a couple of years.
Vidyullatha Vasireddy, one of the researchers on Bennett’s team, finds her inspiration from working directly with the patients.
“We are seeing these people, so we know that there is real urgency,” she said. “If we can save one person with our research, that will be satisfaction.”