by June Portnoy
Kristin and Mike Smedley’s two sons, Michael, 13, and Mitchell, nine, are both affected by Leber’s Congenital Amaurosis (LCA), a degenerative retinal disease.
The boys lost most of their vision in their first three months of life and continue to lose a little bit each year.
Finding a cure for this very rare disease seemed hopeless until 2009 when researchers determined that variations in the gene CRB1 caused this disease. There was finally hope, but as of 2011, research on CRB1 was not as advanced as other LCA genes.
The Smedley family, of Ivyland, stepped up to the plate to launch an effort to progress the focus of research and funding for this gene, establishing the Curing Retinal Blindness Foundation. The focus of the foundation is specifically on CRB1.
For the past two years the foundation has made great progress and has raised over a quarter of a million dollars.
The Smedleys have also put together a medical advisory board with experts from around the country to help them decide which research projects their foundation should help fund in order to reach their goal of finding a treatment and a cure.
“We are racing against time,” says Kristin. “If we don’t find a treatment by the time our sons reach the end of their teens or beginning of their twenties, they will be completely blind. Our hope is that the right treatment will stop their vision deterioration and then restore their sight.”
This past March, the foundation hosted a retinal research symposium at Shriners Hospital for Children Pediatric Research Center at Temple University School of Medicine in Philadelphia.
The symposium included leaders in the fields of retina, stem cells, gene therapy, pharmaceutical and regulatory.
“Holding a symposium of this magnitude was probably the biggest milestone of our foundation so far,” says Kristin.
“We believe that focused research is the key to moving rare disorders like LCA to cures,” says Kristin. “Therefore, we have decided our priority is to reach out and recruit as many researchers as possible.”
Simultaneously, the Smedleys are attempting to identify patients worldwide with CRB1, since there are only 300 kids in this country identified with this condition.
“My fear is that a clinical trial will finally be approved for CRB1, but there won’t be enough patients available in which to participate,” adds Kristin. “The Netherlands Institute for Neurosciences, in collaboration with Dr. John Flannery of the University of California, Berkley is hopefully about 18 months away from coming up with a clinical trial for LCA, but with only a few hundred kids in this country, all with different mutations, these trials won’t work for everyone, so we still need other options.”
As a result, Kristin and Mike recently attended The Association for Research and Vision and Ophthalmology (ARVO) in Seattle. They put together a request for grant proposals, and handed them out to researchers there.
“We were the only parents there with about 12,000 researchers, but it was well worth going because we met many researchers who have innovative ideas for treating LCA,” says Kristin.
The Curing Retinal Blindness Foundation will soon be launching a new website that is multilingual to help recruit more people worldwide with CRB1. Researchers who access it will see patients who are affected with this condition and how they are affected.
“When Michael was diagnosed with LCA at four-months-old, we were told there was not hope to stop or reverse this condition,” says Kristin. “Now only 13 years later, there are so many potential treatments coming out in the next five to 10 years.”
To help find a cure, come out and participate in Curing Retinal Blindness Foundation’s first annual Eye Run for Sight 5K on June 2nd at 9:00am at the Northampton Municipal Center in Richboro.
To register or to make a donation, visit EyeRunforsight5k.org
For more information about the Curing Retinal Blindness Foundation, visit www.crb1.org.
PHOTO CAP: Mitchell and Michael Smedley