Humans of the U: Lorenzo Botto

“Three years ago in the Department of Pediatrics we started the Penelope Program to tackle the challenge of undiagnosed diseases in kids. Many of these kids have been through a diagnostic odyssey—they go from specialist to specialist until they come to what seems to be the end of the road.

Tyler was a child selected for the program. At age 5, he started losing his vision, hearing, speech and his ability to walk. When I met him and his family, Tyler was 12, still undiagnosed and getting worse. We were able to build a team of experts—clinical specialists, molecular geneticists, bioinformaticians—and used these phenomenal resources at the U’ to solve a medical mystery that had led to a diagnostic odyssey of seven years—Tyler had a very rare condition in which a block in an essential enzyme makes the body unable to replenish the fundamental components of DNA.

This discovery was crucial because now we had a strategy for treatment. That same biochemical cycle that is impacted by the non-functioning enzyme also has a back door—and through that back door we devised a way to introduce supplements that could replenish the cycle. . . And the bonus was that those supplements you can buy for a few bucks at a health food store. Within two weeks, Tyler made major improvements.

Perhaps Tyler’s condition is one in a million, but a child in a million is an important child who deserves our best effort. Three years down the road, we have seen several more kids. We make a diagnosis about half the time. But in every case, and for every family, we make a promise that we’ll stick by the family for the long term and we will not give up. If we don’t find the answer now, we’ll keep on trying. These answers can change medicine for us all.”

—Lorenzo Botto, medical geneticist at U of U Health, director of the Penelope Program. Botto and the Penelope team are featured in a short film screening at Sundance Film Festival

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