Beacon Stories

Dec 17, 2019

Ashlyn Experiences Joy in Day-To-Day Life After Sight Is Restored

Ashlyn’s vision was restored following her treatment with the LUXTURNA gene therapy.

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When Ashlyn Reichardt was born, her mother Christina immediately started taking her to eye specialists near their home in Tucson, Arizona, where she was misdiagnosed many times. At the age of 9, full genetic testing finally confirmed that Ashlyn had Leber congenital amaurosis (LCA) with mutations in the RPE65 gene.

“It took me being Ashlyn’s biggest advocate, as an optometrist, knowing that something was going on,” says Christina. “I knew we needed full genetic testing and it was much more difficult to order the test many years ago.”

Less than a year after receiving the genetic test results, Christina received a phone call from Ashlyn’s pediatric ophthalmologist saying Ashlyn was a strong candidate for the recently FDA-approved gene therapy, LUXTURNA®. A few months later, Christina and Ashlyn met with a representative from Spark Therapeutics and in May 2018, Christina received a call to be at the Children’s Hospital in Los Angeles for Ashlyn’s surgery in just a few days.

The Reichardt family (left to right): mother Christina, daughters Ashlyn and Kailey, and father Danand

The Reichardt family (left to right): mother Christina, daughters Ashlyn and Kailey, and father Dan

So, from the end of May into early June, Ashlyn received the LUXTURNA treatment for both of her eyes. Ashlyn was the first female child in the United States to have the treatment since the FDA approval.

Although Ashlyn and her family were scared before the surgery, they all felt hopeful.

“We were excited for the possibility of her vision changing, but we were also scared as one of the first to get the treatment after the FDA approval,” says Christina. “We didn’t know what the outcome would be, and that unknown made us nervous.”

A day after the surgery on Ashlyn’s first eye, she already started to notice a difference in her vision, but it wasn’t easy. Everything seemed very bright to Ashlyn, which kept her in a dark room, but a few days later she was seeing things and very excited. Then Ashlyn went into surgery again for her other eye.

“The second eye was harder for us all,” recalls Christina. “But a few days after the second eye surgery, Ashlyn was seeing things she had never seen before.”

The whole Reichardt family all stayed in Los Angeles for over a month before they could go home. But once they got home, Ashlyn experienced seeing a lot of “firsts.”

“The first thing Ashlyn wanted to see was our dogs,” says Christina. “She said that they looked a lot different in her head. And then she ran to our fish tank and noticed the fish were all different colors. She was so excited that she could actually see their eyes and tails.”

“We were late to school one day because she saw her shadow for the first time and just wanted to watch it,” recalls Christina. “The first few weeks home were like having a new baby or toddler, everything was brand new to her.”

Ashlyn, now 11 years old, continues to experience joy from just living day-to-day life.

“My best piece of advice is to believe in the process,” says Christina. “Knowing Ashlyn’s genetic mutation was so helpful for us – it was everything to get this treatment and it has changed our lives completely.”