When Scientists Failed Them, Parents Unlocked Genetics of Kids’ Disease

Update June 20, 2017: The video of Sharon Terry's talk at TEDMED has been released.

In the mid-1990s, Sharon Terry learned that her two young children had a rare genetic disease called pseudoxanthoma elasticum, also known as Grönblad–Strandberg syndrome and more commonly called PXE.

PXE is a slow progressive disease that hardens connective tissue, causing loose, wrinkly skin in the neck, under the arms, around the groin and behind the knees.

“There was a moment of just complete devastation that my two beautiful, perfect, wonderful children had a disease that I didn’t understand,” Terry says.

Disillusioned by Experts

The good news was that the Boston family had time. Terry’s five- and seven-year-old might look elderly by the time they were 20, but they had several years before the disease triggered severe aging, obscured their vision or impaired their blood vessels.

The bad news was that doctors and researchers knew very little about PXE, and the little they did wasn't being shared across labs.  Terry watched, furious, as one group of researchers extracted vials of blood from her children’s arms, only to have a different team of scientists poke and prod her kids for a new set of samples a few days later.

“We saw, over and over, intense competition,” says Terry. “We had to figure out how to get these scientists to play with each other.”

'Take the Bull By the Horns'

The family took an unconventional approach to orchestrating their children’s care, especially given that neither parent had a background in science. Terry has a master’s degree in religious studies. She was a college chaplain before she became a full-time mom. Her husband is a construction manager with a concentration in drafting from a trade school.

"We decided that we had to take the bull by the horns and, first, learn what we could about the disease," Terry says. "We quickly learned there really wasn't anything to learn about the disease."

Somehow the diligent couple convinced researchers at Harvard to lend them bench space to better understand the genetics driving PXE.

Every night the supermom and superdad spent six hours in a lab collecting blood and tissue samples, extracting DNA, and deciphering the code. Generous postdoctoral students tutored the couple until the wee hours of the morning. And, after a couple of years, Terry and her husband discovered the gene behind PXE.

Eventually they built a diagnostic test and posted all of their data on an open online consortium, which Terry now runs, called Genetic Alliance.

“Cats can be herded if you move their food,” says Terry. “And so we basically said the food is DNA and clinical histories. We're going to put that together, and we're going to get you to come to us, and play by our rules. And our rule is, ‘You have to share with other scientists.'"

A Cure on the Horizon

Genetic Alliance offers a suite of tools to help other families who receive a devastating diagnosis. The advocacy organization offers advice on how to do scientific research, how to talk to kids about genetic disease and how to become an activist on Capitol Hill.

Terry’s children, now 27 and 29, are now closer to a cure than at any time since their diagnoses two decades ago.

“This year we actually have four different treatments that we think are going to be effective,” Terry says. “They've been effective in our mouse model. We're now looking at moving into human clinical trials for these treatments.”

Terry hopes her story will inspire other families to take action when a doctor delivers crushing news. She recently shared her story on stage at the TEDMED health conference in Palm Springs.