One man’s refusal to let choroideremia slow him down
Image courtesy of E.J. Scott
Earlier this year, the world paused to watch its greatest athletestake center stage and compete for the gold in the Games of the XXX Olympiad.The United States’ Michael Phelps became the most decorated Olympian inhistory, and the U.S. women’s gymnastics team became America’s newestsweethearts, seemingly overnight. For two weeks, millions around the worldwatched as athletes gave it their all for a chance at glory.
One event that we didn’t get to watch, though, was perhapseven more inspirational than Michael Phelps’ 21st medal. What wehaven’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 diseasethat is slowly taking his sight. This year, E.J. is taking on 12 marathons, in12 states, in 12 months -- and he’s running every one blindfolded. Though theself-described “non-runner” won’t be winning any medals, E.J. hopes that byrunning the marathons, he can inspire people to donate funds in support ofresearch at the Perelman School of Medicine at the University of Pennsylvaniathat is making strides toward finding a cure for his rare condition. He is runningagainst the clock, in hopes of finding a cure for the condition that alsoafflicts his brother and young nephew.
For most people, standard peripheral vision allows for aField 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 diagnosedwith choroideremia – a rare genetic disorder that causes a progressive loss ofvision. Now, just nine years later, E.J. is legally blind and has less than 15degrees of sight in each eye. Though he is already legally blind, E.J. wearsblindfolds and relies on the help of experienced guides when running to help preserve the vision hehas left as the harmful rays of the sun threaten to exacerbate his condition.
Though scientists have identified nearly 200 genes that playa role in vision loss due to degeneration of the retina, choroideremia iscaused by variations specifically in the CHM gene. The disease – which occursalmost exclusively in males – typically begins with night blindness experiencedin childhood, and progresses as “tunnel vision” – an irregular darkened ringthat gradually expands over time, ultimately leading to a complete loss ofvision. Progression of the disease continues throughout an individual's life.While there is no cure or treatment for choroideremia, researchers at the PennMedicine are optimistic about treatments currently in development.
Despite there being no treatment for choroideremia,
thesuccess of a recent gene therapy trial for people with
Leber’s congenitalamaurosis (LCA – another rare genetic eye disease) – which saw some visionrestored to children and young adults who were legally blind – has some hopingfor the same results for E.J.’s condition.
“We’re making progress toward finding cures for geneticdiseases 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 investigatorson the LCA study. “Because choroideremia is caused by variations only in theCHM gene, it is possible that if we find the optimal conditions totreat the disease, we’ll be able to help everyone who suffering fromchoroideremia.”
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 about6,000 males in the U.S. For patients like E.J. Scott, the success of the LCAtrial is an encouraging stepping stone to finding a cure for choroideremia.
“I’ve been to nine cities so far on this journey, and Ihope I’ve been able to raise some awareness about choroideremia,” said Scott,who has three marathons remaining in his endeavor. “Dr. Bennett and hercolleagues are doing so much great work in gene therapy and, now that this isaffecting so much of my family, I want to make sure we’re doing as much as wecan to help those efforts. If I can encourage people to donate, maybe this issomething my nephew, my brother and I won’t have to live with for the rest ofour 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/.