JUANA SUMMERS, HOST:
For many families dealing with Sanfilippo syndrome, the approval of the first ever treatment is a dream come true. But for some, it's also bittersweet. NPR pharmaceuticals correspondent Sydney Lupkin reports on a story decades in the making.
SYDNEY LUPKIN, BYLINE: When Eliza O'Neill was little, she was one of those kids who always needed to have an accessory - a hat, a scarf.
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ELIZA O'NEILL: Side, side, side to side.
CARA O'NEILL: She would always go get my high heels from a closet and clop around in those, which she scared us to death, you know?
LUPKIN: That was her mom, Cara O'Neill, a pediatrician. By the time Eliza turned 3, she was falling behind on developmental milestones. In 2013, one of Cara's colleagues suggested testing for a group of metabolic disorders, just to rule them out. But the test came back positive for something called Sanfilippo syndrome. Cara remembered learning about the rare inherited disease back in medical school.
C O'NEILL: When they said the word, it all kind of came rushing back, and I was just - it was just this veil of dread. Like, oh, my goodness, this is horrific.
LUPKIN: Children with Sanfilippo, like Eliza, have a faulty gene that leaves them unable to break down a particular molecule cells need to function. But when it builds up in the body, it causes severe complications. Kids with Sanfilippo lose their ability to speak and walk. They have seizures, and they usually don't live past their teens. Here's Eliza's dad, Glenn.
GLENN O'NEILL: It wasn't really until I got home that I realized how quickly the degeneration happened. That was really the point where we said, gosh, whatever we need to do, we need to do it now.
LUPKIN: At Nationwide Children's Hospital in Columbus, Ohio, researcher Haiyan Fu had been working on a gene therapy in mice for Sanfilippo since the late 1990s. The therapy used a modified virus to deliver a working copy of the broken gene to patients' cells. Keeping the project going and funded was challenging. She thought she would have to quit in 2009. But families with children born with Sanfilippo who'd helped from the beginning stepped up.
HAIYAN FU: They said, you can't leave. Can we give you some fund for you to, you know, carry on?
LUPKIN: In all, eight family foundations, including Ben's Dream and Cure Kirby, kept Fu's work going until the research was ready for the first human trial. But that would be expensive. Glenn O'Neill had an idea for how to raise the money.
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G O'NEILL: We reached out on a whim to some strangers that we found on the internet about making a viral video.
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ELIZA: Please share. Please share.
LUPKIN: It worked. In the spring of 2014, the "Saving Eliza" video helped the O'Neills break GoFundMe's record at the time, raising a million dollars in just a few weeks. Soon they hit 2 million. The first human trial started in May 2016. Ultimately, a biotech company called Ultragenyx acquired the rights to the gene therapy in 2022, kept studying it and, a few years later, submitted it to the Food and Drug Administration for review. The FDA approved it last month. The one-time infusion is now called Fayuvi. Ultragenyx set the price at nearly $4 million, tying it for the second-most expensive gene therapy ever. CEO Emil Kakkis says he's committed to making sure every patient is treated regardless of the price.
EMIL KAKKIS: There should be no logistical, location, site or state or other kind of rule that stops us from getting a patient treated. We understand what our - we got to do.
LUPKIN: Moments after the FDA approval was announced, Fu got a call from Cara O'Neill and messages from other families that funded her research. Some had lost a child along the way. Fu says Fayuvi's approval is good news, but it brings a lot of emotions for her.
FU: It shouldn't take this long.
LUPKIN: As for Eliza, she's almost 17 now. The first clinical trial back in 2016 - she was the very first patient to get the gene therapy. Her ability to speak never returned, but she can communicate with picture cards and devices. Eliza goes to school, and this summer, she swam and learned to float on a pool noodle.
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C O'NEILL: Wow (laughter).
G O'NEILL: I just feel proud of my girl, you know? I feel proud of her. It's been a rough road for her, but we also know she's very lucky.
LUPKIN: Sydney Lupkin, NPR News.
(SOUNDBITE OF LOLA YOUNG SONG, "CONCEITED") Transcript provided by NPR, Copyright NPR.
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