San Antonio Express-News (Sunday)
‘Each of us can make a difference’
San Antonio doctor founded registry that helps those with chromosome abnormality
Each workday, Dr. Jannine Cody walks past bulletin boards that display photos of hope.
The boards line three tiled walls on the fifth floor, home to the Chromosome 18 Clinical Research Center at UT Health San Antonio.
Multicolored stars frame images of individuals from around the globe. Youngsters beam with wide grins. Teens smile with cool confidence. Young adults gaze with pride.
Among the snapshots is Cody’s daughter, Elizabeth, whose birth prompted the doctor to act and make life better for thousands of children. The photos are a testament to a mother’s refusal to accept a dire diagnosis for her newborn baby.
In 1985, Elizabeth, Cody’s second daughter, was born in Wichita Falls with a rare chromosome abnormality. The baby had a cleft palate, cleft lip and her feet turned inward.
Doctors gave her parents the only information available at the time — a one-page summary from a medical journal. It predicted a future for those with the condition lying in a frog-like position and vegetated state.
A physician told Cody there were only 65 other families in the world with the condition. She was stunned by the lack of information about the disorder.
“I remember feeling like being on a lifeboat without a life preserver,” Cody, 68, said. “There was no idea of what to do next.”
When she couldn’t find any experts, she became an expert herself. And she’s led the charge for the last 30 years, helping children worldwide.
Cody is a professor of pediatrics at the Joe R. and Teresa Lozano Long School of Medicine at UT Health San Antonio.
She founded the Chromosome 18 Registry & Research Society, a support and resource group, in April 1990. The vision: identify families, secure medical records and collect data through surveys. The nonprofit has brought together more than 5,000 families across the nation and 2,500 families from around the globe.
In 1991, Cody set out to get answers to questions she and others had for years. She spoke to Dr. Celia Kaye, a
medical geneticist, who invited her to talk to doctors about the condition no one was talking about. That’s when she applied to graduate school.
Cody earned a doctorate in human genetics at the University of Texas Health San Antonio in 1997. She partnered with colleagues to form the Chromosome 18 Clinical Research Center, which is recognized as the only laboratory in the world dedicated to chromosome 18 abnormalities.
She served as president of the organization until she stepped down last year, and Neale Parker became the CEO.
Parker called Cody “the global expert on chromosome
conditions.”
“She was really not given much hope at all,” he said. “That’s something as a new parent that is mortifying to hear.”
Parker said about 50 percent of new members are international members. Parker said the outlook looks good.
“We like to say we’re small but mighty,” he said. “Bringing a community together across the country and globally is a big deal. We’re the only place they can go to.”
The center even has an official Fiesta event, a 5K run/ walk.
Cody has loved science since she was a child growing up in Charles City, Iowa. She
wanted to work in a lab like her grandfather, who had a veterinary lab. He ran the business side of the lab where her aunt also worked.
When Cody’s husband was stationed in San Antonio, the family found support at the Wilford Hall Medical Center.
Cody worried about her daughter’s tiny size. By age 2, Elizabeth was only half the size she should be. They dressed her in dresses of dolls that matched those of her older sister, Catherine.
A pediatrician found that Elizabeth had a growth hormone deficiency, and she started growth hormone treatments. She grew taller. Her hair and fingernails grew. She seemed more alert.
Cody wanted to share the news with other parents. When she asked the doctor how she could find more families, he suggested that she start a support group.
She pored over medical journals, made phone calls and wrote letters. After the first year, they’d found more than 30 families.
They offer members more than a one-sheet outline of the condition — they have a management guide that is 34 pages long.
She said chromosome 18 abnormalities are the leading cause of intellectual disability, a huge obstacle to an independent life.
“This is an important problem for society to understand,” Cody said. “And how to treat an abnormality that affects many people.”
Cody is happier looking into a microscope than dealing with administrative policies, but she knows it’s a crucial part of their mission.
Elizabeth, now 38, is having a full life.
She helps in the office. She’s traveled to camps and conferences around the world. She’s the daughter of a determined mother who didn’t accept a dire diagnosis of the rare condition.
“I want to help individuals have the best life possible and hopefully an independent life,” Cody said. “So, they’re making the best decisions about their lives as the rest of us do.”
Last week, the society hosted the 28th annual Camp Chromosome 18 Family Summit in Columbus, Ohio. Every fourth year, the conference is held in San Antonio.
More than 300 families attended this year’s event.
“It’s such a resilient and joyous group,” Cody said. “It’s like a family reunion.”
Cody said their theme is inspired by the starfish story by anthropologist and poet Loren Eiseley.
An older man is walking on a beach when he sees a young man throwing beached starfish back into the ocean. He asked the man how he expected to help the thousands washed up on the shore. The young man picked up another starfish and tossed it in the sea.
“I helped that one,” he said. “It’s sort of the power of one person to make a difference for one,” Cody said. “Each one of us can make a difference.”