In 1991, a UT Health Science Center doctoral student named Jannine Cody was beginning a quest. She yearned to help her daughter, Liz, who was born with a deletion on chromosome 18. Jannine began a research relationship with the Health Science Center that this year reached 25 years and led to improved care of young people with chromosome 18 syndromes across the country and the world.
On Aug. 22, Dr. Cody and her colleagues celebrated the milestone with an anniversary reception at the Holly Auditorium foyer of the UT Health Science Center, 7703 Floyd Curl Drive. William L. Henrich, M.D., MACP, president of the Health Science Center, spoke.
Dr. Cody completed her Ph.D. in 1997 and joined the faculty soon after. Under her direction, the Chromosome 18 Research Center has been the global leader in monitoring young people over an extended period of time, leading to understandings about abnormalities and stages as these children grow up. The center is publishing online guides for physicians.
“You know, Liz was 3 before we knew she was hearing impaired,” Dr. Cody said. “Because of that, as soon as their chromosomal syndrome is diagnosed nowadays, we say, check their hearing. In a lot of ways, what we do is save the repeated diagnostic odyssey that happens over and over for families.”
“Pretty much anything that has ever been published or is out there on the web about chromosome 18 syndromes has come out of this center,” said Neale Parker, executive director of the Chromosome 18 Registry & Research Society.
About 400 affected babies are born annually, including an estimated 160 in the U.S. and 200 in Europe. “It’s not a huge number, but it’s very important to make sure that each of those families is diagnosed properly, and that we get the information to them that is going to make a difference in each child’s life,” Dr. Cody said.
The Chromosome 18 Registry & Research Society conducted conferences in San Antonio and Italy this summer. Hundreds of families attended to receive the latest updates. Because of long-term follow-up, parents are finding that some affected individuals are at risk for specific adult-onset conditions.
Before Dr. Cody’s quest began, children born with these syndromes were sort of placed in a corner. “There were normal medical management solutions that just were not applied to these people because nobody cared,” Dr. Cody said. “There was just this assumption that they were too messed-up to help.”
Thanks to a mother’s belief and 25 years of devoted work by her and many colleagues, families are now getting answers and relief.