Dec 21, 2020

Hannah’s Bright Future Ahead

Beacon Stories

At seven years old, Hannah had never seen a lightning bug in the summer or a star in the sky. But after her treatment with LUXTURNA, Hannah can now play outside at night with her brothers and has a new bright future in store.

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Hannah Reif was diagnosed with a visual impairment when she was just three months old.

At two weeks old, Hannah’s mom, Amy, took her to a routine wellness checkup. The pediatrician asked Amy if Hannah was making eye contact with her, and she immediately responded, “yes,” because she knew it was the right answer. But after putting more thought into it, Amy honestly wasn’t sure. After that appointment, Amy and Hannah’s father, Chris, kept a closer watch on her eyes.

Hannah smiling with her mom, Amy.

Over the next few months, Amy and Chris realized that Hannah, in fact, wasn’t making eye contact with her. Hannah would only look out the window at the sun or a lamp. Amy even saw what looked like Hannah’s eyes bounce up and down, and that’s when she started to think the worst.

Within days of Hannah’s next checkup, she was referred to a pediatric ophthalmologist and then sent to Children’s Hospital of Philadelphia (CHOP) for an electroretinography (ERG) test. That same day, the doctor told Amy that Hannah’s ERG results came back flat, diagnosing her with Leber congenital amaurosis (LCA). Shortly after, Hannah received genetic testing to confirm she did have LCA with mutations in the RPE65 gene. Their retinal specialist told them about a clinical trial happening right there at CHOP for a gene therapy that Hannah could potentially be a candidate for one day.

“Learning about the ongoing clinical trial as soon as Hannah was genetically tested was really promising for us,” says Amy. “We were thrilled knowing that the trial was going on right where we lived, and it gave us so much hope. At that early point in Hannah’s diagnosis, it’s all you can hold onto.”

Amy recalls immediately feeling overwhelmed by Hannah’s diagnosis, but having the Foundation Fighting Blindness as a resource helped her to feel more informed and prepared for Hannah’s future. The Reif family attended their first Foundation VISIONS Conference when Hannah was only seven months old. This experience involved connecting other parents and individuals affected by rare diseases like Hannah’s, which helped them to feel a part of the Fighting Blindness family.

“All you hear initially is how rare of a disease your daughter has,” says Amy. “I didn’t know anything about vision loss, but to have an opportunity to meet others affected by diseases so similar to hers so early on, it was really wonderful.”

The Reif family has also participated in the Philadelphia VisionWalk every year since Hannah was one year old.

Over the next several years, Amy and Chris continued to hold onto hope and brought Hannah to CHOP for her annual checkups, hearing about the clinical trial progress each time.

Hannah outside in the woods hiking with her two brothers, Matthew (left) and Jacob (middle).

Two weeks after Hannah turned seven years old, on December 19, 2017, Amy and her family heard the news that LUXTURNA® had become FDA approved. They knew the trial had been so successful, but the day LUXTURNA was an FDA-approved gene therapy felt unreal.

Amy waited a couple of weeks later until reaching out, but then at the beginning of January, she contacted Spark Therapeutics, the company developing the treatment. Over the next several months, the Reif family waited until CHOP became an approved treatment site.  

“It was a no brainer that we would have the procedure done at CHOP,” says Amy. “Although it was obviously so exciting, it was still pretty terrifying too.”

Hannah was the first patient to receive LUXTURNA at CHOP after its FDA approval. Dr. Albert M. Maguire performed Hannah’s surgery, who was part of the team that brought the genetic therapy to fruition.

On July 10, 2018, Hannah had her first surgery on her left eye, and Amy and Chris could immediately tell Hannah could see better.

“She came downstairs the next morning for breakfast, sat down at the table, and turned on her desk lamp like she always had every morning,” recalls Amy. “But she immediately pushed the light away and started to cry because the light was too bright. She had never had a sensitivity to light; she always needed more light before.”

Hannah’s vision was cloudy at first, but only six days after her first surgery, Hannah saw a star for the first time in her life.

Two weeks later, after Hannah’s second surgery on her right eye, new discoveries continued. Hannah could now see the buttons on the microwave, the hot and cold controls for air in the car, the water line in her glass, and more.

“She’d be filling up a glass of water and say, “Hey, I can see a water line in my glass now,” when before she had to stick her finger in the glass to know if it was full,” says Amy. “As a mom, I wanted to cry every time she discovered something new that she could see, but Hannah just stated it, very casually, and never really got excited about it, she just took it all in stride.”

Hannah and her brother eating donuts in the car.

Hannah and her brother, Matthew, eating donuts in the car.

Before Hannah’s surgery, the Reif’s were always mindful of the lighting when visiting new places with Hannah. Amy and Chris would carry a portable desk lamp, in case the lighting was too dim for Hannah. But now, the entire family has been able to explore new places, like Disney World, and not once have to worry about how the lighting would be for Hannah.

Hannah now has the freedom to run around and play outside with her brothers and friends, even once the sun goes down. Her new favorite summer activity is catching lightning bugs, which she couldn’t even see before, let alone be able to navigate outside in the dark.

Thanks to LUXTURNA, Hannah’s world is now brighter and clearer than ever, giving her the ability to navigate all on her own, giving her confidence she never had before.

“It’s wonderful as a parent, to see that Hannah can now navigate independently and that daily tasks aren’t a struggle anymore,” says Amy. “It’s been an amazing experience, and we feel so fortunate for this entire process.”