When Jack was born, he was diagnosed with hearing loss. His parents, Maggie and Adam, tried to determine the cause. Their recommended course of action was genetic testing. They learned that Jack had a very rare form of Usher’s Syndrome – hearing loss AND vision loss. The genetic counselor told Maggie that some kids with this condition will be deaf and blind by age 10.
Distraught, Maggie and Adam tried to find out more, but came up short. Jack’s pediatrician and eye doctor didn’t know anything about the gene but recommended going to the Retina Foundation to seek more information and learn about clinical trials.
When Maggie told Dr. Mark Pennesi about Jack’s condition, he knew what she was talking about. In fact, he was a co-author on a scientific paper about this gene. He had studied patients with this mutation! In two years of searching, no other doctor had even heard of it. Jack underwent testing at the Retina Foundation to help Dr. Pennesi get a better grasp of his current condition.
Each year, the Holley family will return to check the progression, at no cost. Thanks to the Retina Foundation, Maggie now knows that Jack likely won’t begin losing vision until he is a teenager or young adult. That gives the Holleys a time and a plan.
Currently, the Retina Foundation is looking to open a pediatric IRD clinic. This clinic would allow hundreds of children with IRDs in Dallas County to have an opportunity to see Dr. Pennesi in a timely manner for the answers and hope that their family longs for. Without the Retina Foundation, the next closest specialist would be in Oregon or Florida.
Jack loves the moon and stars. He loves reading books about space and pretending to drive a rocket ship. He looks for the moon at night and says, “Look mom – the moon!” If Jack starts to lose his vision, the moon could go for him. His parents hope that with the Retina Foundation’s research, Jack never has to give up the moon.
