Mar 9, 2020

No Slowing Down for LCA

Beacon Stories

Braydon was diagnosed with an inherited retinal disease at only two years old. Eight years later, after his mom enrolled him in the My Retina Tracker® Program, Braydon learned his disease was LCA.

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Semmes, Alabama resident Braydon was only two years old when his mom Kellie noticed he wasn’t seeing very well. One night, he fell and hit his head, so she rushed him to the doctors where they referred Braydon to a retina specialist, who diagnosed him with the progressive inherited retinal disease (IRD), retinitis pigmentosa.

Braydon playing basketball

Braydon playing basketball.

At the time, Kellie was overwhelmed by the news, as neither she nor Braydon’s dad had a family history of any retinal diseases. But as a mom, Kellie was determined to raise Braydon without any limitations. Now 10 years old, Braydon stays busy with his two siblings and many friends from school. Braydon also has a passion for extracurricular activities like basketball and piano.

“It’s scary to watch him play basketball, as he does get hurt sometimes,” says Kellie. “But his coach works with his teammates to be sure they bounce the ball when they pass so he can hear the ball coming. Even when he does get hit, he always bounces right back and wants to keep playing no matter what.”

Because he can’t read the sheet music, Braydon’s piano teacher has adapted her teaching style, to calling out the notes for him to hear, so he can memorize songs.

“Braydon has an amazing memory,” says Kellie. “After a 30-minute lesson, he comes home and can play a whole new song for me. It’s really incredible.”

In the midst of Braydon’s busy day-to-day life, he checks up with his regular eye doctor who recently referred him to the Foundation’s associate director of professional outreach, Michelle Glaze, who lives in Alabama as well.

The Foundation’s professional outreach team educates eye care professionals throughout the U.S. about the many resources the Foundation provides to patients and families with inherited retinal diseases (IRDs).

Michelle specifically recommended the new My Retina Tracker® Program, which provides no-cost genetic testing and counseling for individuals who have an IRD. Braydon enrolled in the program and was genetically tested, without any cost to his family. The genetic counseling then explained and diagnosed Braydon with Leber congenital amaurosis, or LCA, with mutations in the RDH12 gene.

A more accurate diagnosis opens the door for Braydon to potentially participate in a clinical trial or receive a future treatment. And now Kellie has connected with other parents in the LCA community.

“It’s been so great to receive this information and get connected with other LCA families,” says Kellie. “Braydon seems to understand his diagnosis and he just take it as it is. He doesn’t let it slow him down and I don’t think he ever will.”

Kellie is inspired by her son every day and lives by the saying, “Don’t sweat the small stuff.”

“As a parent, it’s hard to let go and let him be independent,” says Kellie. “But he’s capable of so much on his own and I’m very proud of him.”