July 7, 2000
Thirty-seven families with a very rare genetic disorder have gathered in Salt Lake this weekend in hopes of finding out more about a condition that few people know about.
Science Speciliast Ed Yeates reports from University Park Hotel.
They call these kids the little angels.
Their sparse curly hair and distinctive facial features come from a rare genetic disorder called Cardio Facio Cutaneous Syndrome, or CFC.
Within a network of families who make up the support group - they're only 60 confirmed cases worldwide - and more than half of them are here at this unique gathering in Salt Lake.
JOHN OPITZ, M.D., MEDICAL GENETICIST, U OF U / PRIMARY CHILDREN'S HOSPITAL: "THIS IS THE LARGEST NUMBER OF PATIENTS WITH THIS CONDITION THAT HAS EVEN BEEN SEEN IN THE WORLD."
DANA KLINE, CAMDEN'S MOTHER: "YOU COME HERE AND YOU SEE ALL THESE FAMILIES. YOU SEE KIDS THAT LOOK LIKE YOUR KIDS. YOU SEE PARENTS WHO'VE BEEN THROUGH WHAT YOU'RE GOING THROUGH - WHAT YOU'VE BEEN THROUGH."
Dana and Chuck Kline don't know for sure if their daughter Camden has CFC. That's why they're here, to see if medicial geneticists at Primary Children's Hospital and the University of Utah can help.
That's not easy, since there are no medical tests, no absolutes, in diagnosing or even determining exactly what will happen to the child as she grows.
ED YEATES, SCIENCE SPECIALIST: "BUT GENETIC RESEARCHERS IN UTAH ARE TRYING TO PUT THE PIECES TOGETHER - TO GATHER INFORMATION FROM ALL THE FAMILIES -- SHARED TRAITS WHICH PERHAPS MAY PROVE TO BE EARLY MARKERS FOR THE DISORDER."
"LIKE THE AMNIOTIC FLUID. I MEAN I WAS ABSOLUTELY HUGE - PREGNANT WITH HER. AT SEVEN MONTHS I GAVE BIRTH TO HER AND I WAS TECHNICALLY ELEVEN MONTHS PREGNANT. I WAS THAT BIG."
Nineteen-year-old Karen Nelson is one of the older teenagers at the gathering. She too has the same facial characteristics - plus the developmental delays.
KAREN NELSON, CFC Patient: "SAMMY. IS SAMMY A DOG OR A CAT? A CAT" ))
Karen also has vision problems - seeing most of her world through a tunnel.
RONDA NELSON, KAREN'S MOTHER: "TO HER THIS IS NORMAL. SHE DOESN'T EVEN USE BOTH EYES AT THE SAME TIME. SHE USES ONE EYE."
Four of the approximately 60 people with CFC died in the past two years. Researchers suspect heart defects caused the deaths - and may be part of the genetic breakdown.
Tomorrow, medical researchers will divide the kids into two groups for specialized clinic visits at Primary Children's Hospital.
