A Family Reaches Out to Find a Cure for their Son

When Jacob Johnson's mother and father learned that he had X-linked retinitis pigmentosa (XLRP), they kept the news relatively private. Jacob was five when he was diagnosed, and fortunately, he hasn't lost enough vision over the past three years for his friends and other people to notice.

But when his parents decided to get involved in Nashville's inaugural VISIONWALK in May 2007, they asked friends to support the Foundation's research, and Jacob's condition became public knowledge. "We decided that the walk was an opportunity for us to get the word out and make a difference," says Trent Johnson, Jacob's father and Nashville VISIONWALK Chairman.

"I enjoyed being chairman. It was rewarding," adds Trent. "We realized how much our friends cared about us by how many of them walked and made donations. We made many new friends, as well. It was a fantastic experience."

A typical active eight-year-old who enjoys scouting and sports, Jacob has definitely noticed a decline in his vision, even if it isn't obvious to other people. "During daylight, Jacob still sees fine," says his father. "However, at dusk and at night, he struggles. Earlier this summer, after playing basketball in the evening with his friends, he said to me "Dad, I hope they find a cure soon because I couldn't see anything when it got dark."

XLRP has been traced to four generations of his mother Shelley's side of the family. As an X-linked condition, the disease is carried by women andusually affects men only. Given disease progress in other family members, Jacob will likely lose a considerable amount of vision by 40 years of age, unless a cure or treatment is developed.

The Johnsons are optimistic that research will find a therapy that will save Jacob's vision. In fact, they are enrolling him in a Foundation-funded clinical trial at the Retina Foundation of the Southwest. The study is being conducted to determine if DHA supplementation can slow vision loss in people with XLRP.

The Foundation is also aggressively pursuing research for XLRP treatments through a consortium of XRP scientists, and recently received a $1 million gift from an anonymous donor to advance the work of the consortium. Read more about the XLRP gift and consortium in this issue of InSight.

For more information on VISIONWALK, visit the VISIONWALK Web site at www.visionwalk.org.