Home » Meeting gives patients and families chance to share experience with RTS disease & learn about new research
Ria started experiencing health problems when she was a newborn. Two years later, doctors diagnosed her in 2002 with the rare genetic disorder Rothmund-Thomson Syndrome.
October 15, 2007 – Baylor College of Medicine
by Dana Benson
Ria Chadha started experiencing health problems when she was just a newborn but it was two frustrating years before doctors diagnosed her in 2002 with the rare genetic disorder Rothmund-Thomson Syndrome.
Ria’s father, Peter Chadha, and other patients and families affected by RTS will share their experiences and hear the latest findings from researchers and physicians from Baylor College of Medicine and Texas Children’s Cancer Center during a meeting Oct. 18-19.
The first annual Rothmund-Thomson Syndrome meeting will be held at the Feigin Center at Texas Children’s Hospital. Patients and families will speak on the first day of the meeting.
RTS is characterized by a red rash that generally develops in infancy, skeletal abnormalities such as missing thumbs, sparse hair and eyebrows, the occurrence of cataracts and a predisposition to cancer, particularly osteosarcoma, a form of bone cancer with a low survival rate.
“While RTS is a rare disease, it is devastating for patients who suffer from it, as well as their families,” said Dr. Lisa Wang, assistant professor of pediatrics – hematology and oncology at BCM, and a researcher at Texas Children’s Cancer Center.
Wang conducts research on the biology and genetic basis of RTS and investigates the medical problems associated with the disease. She established the link between RTS and osteosarcoma and created a database of patients and their families that is an important research tool and provides a support system for those dealing with disease.
She will present the latest RTS research and discuss RTS and bone disease. Other BCM physicians who are part of the RTS team will speak at the meeting, including Dr. Sharon Plon, associate professor of pediatrics and molecular and human genetics, and Dr. Moise Levy, professor of dermatology. Genetic counselor Claire Noll, a BCM instructor in pediatrics – hematology and oncology, will be available to meet with patients and families.
The meeting is also meant to foster greater camaraderie and discussion among patients and families affected by RTS. One goal is to establish a nonprofit organization to promote medical research and patient support.
Chadha and his family are traveling to Houston from England to attend the meeting. “This is the only program in the world that is focusing on RTS so extensively,” he said. “We’re eager to meet with doctors and other patients and families, particularly so we can gain some insight into what lies ahead for us.”
The RTS program is part of the Texas Children’s Cancer Center and Hematology Service, a joint center of Baylor College of Medicine and Texas Children’s Hospital.