Families, professionals gather in Salt Lake City for conference on genetic disorder

PROVO — Like most kids his age, 8-year-old Sterling Orton enjoys building things with Legos, spending time with his friends, and jumping on the trampoline in the backyard of his home in the Provo Riverbottoms.

"He's very sensitive," said his mother, Frances Orton. "He has a great sense of how people are feeling. He has to work a little harder than some in school, but he gets along well."

Sterling's normal life is the results of eight years of efforts by his family and his doctors to manage health issues caused by a common but obscure genetic disorder known as Velo-Cardio-Facial Syndrome, or VCFS.

It is caused by a tiny deletion of about 40 genes from chromosome 22 and shows up as a few or as many as 200 physical anomalies, which vary from cleft palate to heart defects to distinctive facial characteristics. VCFS occurs in about one in every 2,000 births and is second only to Down syndrome as a genetic disorder with multiple anomalies.

But because VCFS was only recognized as a specific condition in the 1960s, and genetic testing to identify the syndrome didn't exist until the 1980s, many have never heard of it. Those with more serious symptoms are diagnosed early, but others may live their lives without ever knowing they have the syndrome.

This weekend, scientists, health professionals and family members of those with the syndrome are gathering in Salt Lake City at the Sheraton Hotel for the 17th Annual International Scientific Meeting of the Velo-Cardio-Facial Syndrome Educational Foundation.

Steven J. Orton, Sterling's father, has not had a normal life since learning that his son had VCFS, and he started attending the annual conferences. Four years ago, when the conference was held in Dallas, he was the first to raise his hand when they asked who would like to host the gathering in 2010.

This week, he has been busy organizing the meeting of more than 250 people from South Africa to Australia to Asia, including Dr. Robert Shprintzen, the speech pathologist who identified many of the symptoms as part of a single syndrome and coined the phrase "velo-cardio-facial."

Sterling's parents were first alerted to possible problems when their baby had a hard time sucking.

"We were feeding him with a syringe, and we would get him to suck on a finger and then squeeze the formula in with the syringe at the same time," said Frances Orton.

But because Sterling had a soft palate, not a cleft palate, the defect wasn't immediately recognized. "The lactation nurse caught that," she said.