UR Hosts Symposium, Clinic During National Conference on Genetic Disorders

July 07, 1999

When Stacy VanHerreweghe was born in 1981, her parents believed they held a perfectly healthy baby in their arms. Yet three months later, Barb and Dave VanHerreweghe were given news that changed their lives forever.

Stacy was diagnosed with Trisomy 18, one of a group of genetic disorders that result from the presence of three chromosomes rather than the usual two in a particular chromosome pair. Children with Trisomy 18 have 47 chromosomes, instead of 46, with an extra No. 18 chromosome present.

Stacy's prognosis was grim, according to doctors. Most children born with Trisomy 18, and related disorders such as Trisomy 13, don't live beyond early childhood. Yet there are a special few, like Stacy, who live beyond their life expectancy. Stacy celebrated her 18th birthday this spring.

For the children who beat the odds, health problems develop quickly as a result of their condition. Challenges such as mental retardation, heart problems and gastrointestinal troubles put a considerable strain on the children and their families.

"You never know from one day to the next what will happen," Ogden resident Barb VanHerreweghe says. "You can go for quite a while and everything is fine, and then something goes wrong. It's unpredictable."

To cope with the stress that accompanies their daily routine, the VanHerreweghes in 1982 joined an international organization, Support Organization for Trisomy 18, 13 and Related Disorders (SOFT), which offers support and education for families. Now, Barb VanHerreweghe is the president of the group, which has about 1,500 active families around the world.

The organization's annual conference will be held for the first time in Rochester from July 28 to Aug. 1. On July 29, the University of Rochester Medical Center will hold a

scientific symposium, coordinated by pediatric geneticist Georgianne Arnold, M.D., titled "Biomedical and Bioethical Management of Infants with Trisomy 18 and Trisomy 13."

Following the symposium, a free clinic for children with Trisomy and related disorders will be held. A team of specialists from Strong Memorial Hospital of the University of Rochester Medical Center will provide consultation in 16 areas, including cardiology, urology, gastroenterology, genetics, neurology and nutrition.

The conference - which is expected to attract more than 200 people, some traveling from as far away as Australia and Alaska - brings families affected by Trisomy conditions together for support, and gives health care professionals the opportunity to learn about the syndromes, says Ithaca resident Barb Romano, who planned the SOFT conference with VanHerreweghe. Romano's 7-year-old daughter, Gabriella, has Trisomy 18.

Trisomy conditions occur in more than 2,000 births per year in the United States. Children with Trisomy 18 have a higher incidence of some cancers, such as Wilms tumor, and they suffer from digestive and eating problems, as well as heart conditions. They also can experience seizures, apnea, hypertension and scoliosis. Stacy, who uses a wheelchair, requires a feeding tube to receive nourishment. She has undergone six surgeries at Children's Hospital at Strong and has chronic pain in her hip.

Children with Trisomy 13, which is a result of the presence of an additional No. 13 chromosome, have a high rate of heart problems, feeding difficulties and seizures, as well as kidney defects and profound retardation.

"The treatment of Trisomy 18 and 13 and related disorders is unfamiliar to many in the medical community," says Gregory Liptak, M.D., M.P.H., medical director of Kirch Developmental Services Center, a program of the Strong Center for Developmental Disabilities at Children's Hospital at Strong. "It requires specialized, interdisciplinary care, which we currently provide to children in the Finger Lakes Region who have physical disabilities like Trisomies 18 and 13, cerebral palsy and spina bifida."

"Children's Hospital at Strong is pleased to host the symposium to better familiarize local health care professionals with the disorders, and to provide additional consultations for families through the Kirch Center," Liptak says.

In addition to the events at the University of Rochester Medical Center, the conference will include various seminars for parents, and workshops and fun activities for the affected children and their siblings. Events other than the scientific symposium and clinic will be based at the Rochester Marriott Airport Hotel.

For information about SOFT, contact Barb VanHerreweghe at (800) 716-SOFT (7638) or (716) 748-4621.

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Karin Christensen
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