One man’s refusal to let choroideremia slow him down
One event that we didn’t get to watch, though, was perhaps even more inspirational than Michael Phelps’ 21st medal. What we haven’t heard Bob Costas talk about is Penn Medicine patient 36-year-old E.J. Scott, who is dedicating 2012 to an epic battle against a hereditary disease that is slowly taking his sight. This year, E.J. is taking on 12 marathons, in 12 states, in 12 months -- and he’s running every one blindfolded. Though the self-described “non-runner” won’t be winning any medals, E.J. hopes that by running the marathons, he can inspire people to donate funds in support of research at the Perelman School of Medicine at the University of Pennsylvania that is making strides toward finding a cure for his rare condition. He is running against the clock, in hopes of finding a cure for the condition that also afflicts his brother and young nephew.
For most people, standard peripheral vision allows for a Field of View (FOV) of approximately 180 degrees. In 2003, doctors told E.J. that his peripheral vision was only 70 degrees in each eye. He was ultimately diagnosed with choroideremia – a rare genetic disorder that causes a progressive loss of vision. Now, just nine years later, E.J. is legally blind and has less than 15 degrees of sight in each eye. Though he is already legally blind, E.J. wears blindfolds and relies on the help of experienced guides when running to help preserve the vision he has left as the harmful rays of the sun threaten to exacerbate his condition.
Though scientists have identified nearly 200 genes that play a role in vision loss due to degeneration of the retina, choroideremia is caused by variations specifically in the CHM gene. The disease – which occurs almost exclusively in males – typically begins with night blindness experienced in childhood, and progresses as “tunnel vision” – an irregular darkened ring that gradually expands over time, ultimately leading to a complete loss of vision. Progression of the disease continues throughout an individual's life. While there is no cure or treatment for choroideremia, researchers at the Penn Medicine are optimistic about treatments currently in development.
“We’re making progress toward finding cures for genetic diseases every day, and our past studies show that we’re on the right track,” said Jean Bennett, MD, PhD, F.M. Kirby Professor of Ophthalmology at Penn Medicine, and one of the lead investigators on the LCA study. “Because choroideremia is caused by variations only in the CHM gene, it is possible that if we find the optimal conditions to treat the disease, we’ll be able to help everyone who suffering from choroideremia.”
According to the National Institutes of Health (NIH), choroideremia accounts for an estimated four percent of all blindness – equivalent to approximately 1 in 50,000 to 100,000 people worldwide, and about 6,000 males in the U.S. For patients like E.J. Scott, the success of the LCA trial is an encouraging stepping stone to finding a cure for choroideremia.
“I’ve been to nine cities so far on this journey, and I hope I’ve been able to raise some awareness about choroideremia,” said Scott, who has three marathons remaining in his endeavor. “Dr. Bennett and her colleagues are doing so much great work in gene therapy and, now that this is affecting so much of my family, I want to make sure we’re doing as much as we can to help those efforts. If I can encourage people to donate, maybe this is something my nephew, my brother and I won’t have to live with for the rest of our lives.”
During his year-long quest, E.J. is releasing footage of his races, leading up to his final run in Las Vegas.
For more information about E.J.'s disease, how his marathon running is going, or how you can donate to his campaign, please visit http://www.ejscott.com/.