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Genetic Linkage

Rare Diseases: Unicorns, Not Zebras

The past and future of gene therapy: Corey Haas and Hannah Sames autograph books at the Schenectady Library.
“When you hear hoofbeats, think horses, not zebras.”

Every doctor-to-be hears this mantra. Rare Disease Day, February 28, celebrates the 7,000 or so diseases that are zebras, each affecting fewer than 200,000 people.

Giant axonal neuropathy (GAN) isn’t a zebra, but a unicorn. Eight-year-old Hannah Sames inherited one mutation from each of her parents in a gene that encodes a protein called gigaxonin. As a result, the axons of her motor neurons are slowly filling up with haphazardly-arrayed intermediate filaments. The cells bulge, blocking the messages to her muscles. She’s one of only 50 in the world known to have GAN. But if all goes according to schedule, Hannah and several other youngsters are going to have gene therapy to correct the disease. Read about it at Hannah’s Hope Fund.

Two years ago, at the annual meeting of the American Society of Gene and Cell Therapy in Washington, I had the honor of watching Hannah’s marvelous mom Lori as she watched a child helped by gene therapy – Corey Haas, whose story bookends a brief history of the technology in "The Forever Fix: Gene Therapy and the Boy Who Saved It".

Here’s an excerpt, for Rare Disease Day.

“The high point of the gene therapy meeting, for Lori and the other 1,000+ attendees, comes on Friday night, at the Presidential symposium. A nine-year old boy walks onstage holding the hands of his nervous-looking parents. A woman with flowing long reddish hair held in place with pink barrettes and wearing a short jumper with red tights follows – she is Dr. Jean Bennett. As the crowd sits stunned, the family settles in their seats, and with a broad grin, Dr. Jean says, “I’d like to introduce the youngest person ever to speak at ASGCT – this is Corey Haas.”

With that simple sentence, she brings many in the crowd of usually staid scientists, especially the older ones, to tears. Seeing Corey, hearing Corey, lays to rest the doubts over Ashi and Cynthia, the anguish over Jesse and Jolee and the leukemia boys. Gene therapy is, finally, a resounding success.

Dr. Jean tells the story of Corey’s gene therapy, including the now famous film of the boy navigating the mobility course with his treated eye (in seconds) and then his untreated eye (in several looooong minutes). Then Corey calmly answers questions from the audience. Ethan is beaming; Nancy dabs at her eyes.

“Corey, would you like to have your second eye done?” Dr. Jean asks.

“Sure!!”

“When?”

“How about tonight?”

The crowd roars. Corey, a veteran of news and talk shows, is already a pro at handling an audience.

After the Q+A, when the family returns to their seats in the front row, Corey is mobbed. A woman scientist bends down and throws her arms around him, crushing him to her pillowy bosom. “You’re going to be a scientist when you grow up, aren’t you?” she asks, as Corey tries politely to squirm away. He turns around and breaks free for a moment, when he’s stopped by a distinguished older man thrusting out his hand. “You are the bravest person I know,” he says, shaking hands, and Corey grins.

On the fringe of the crowd stands the usually laughing Lori, uncharacteristically still and silent, tears streaming down her face. For if gene therapy can cure Corey, it can cure Hannah, too.

But the next afternoon, when Lori steps onto the sidewalk outside baggage claim at Albany International Airport and scoops up Hannah as she stumbles toward her from the family van, the little girl is unimpressed.

'Mommy, why do you have to go away to learn science?'”
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