In 1985, Jannine Cody gave birth to a baby girl with a missing piece of her 18th chromosome. "And when she was born 41 years ago, the diagnosis was easy. It was a chromosome test, but that's where it ended. Then you go home, and there's nothing," Cody said.
Cody's daughter, Elizabeth, had a disorder called 18q- syndrome. 18q- is a spectrum disorder that can include issues of varying severity, including intellectual disability, hearing loss, heart defects, endocrine issues, and developmental delays. Other disorders that can occur when chromosome 18 is altered include trisomy 18, tetrasomy 18, and Ring 18.
Each syndrome has unique health impacts, and when Cody and her child began their journey, little was known beyond diagnosis. Cody noted that many parents who have children with disabilities must go on what she called a "diagnostic odyssey" to discover the cause. "We have the exact opposite problem. We can get a diagnosis very quickly, sometimes prenatally. Then we're going on a clinical odyssey, in which you have to go to every possible specialist to try to figure out what's going right and what's going wrong."
One of the first things Cody sought out was community. She founded a family support group for people with chromosome 18 conditions, and together, they began to seek out resources to improve the health and lives of their children.
"One of the things I learned really quickly was we didn't have the expertise to really take it very far," Cody said. "The other thing I learned was that nobody I could find anywhere was interested in these conditions beyond diagnosis, and diagnosis is just day one. Then, as a parent, you have every other day after that. You've got to figure out how to manage."
So Cody decided to gain the expertise she'd been looking for elsewhere: "I enrolled in graduate school here at UT Health and was able to slowly but surely build a program almost entirely funded by the families and all the fundraising that they do," she said.
Cody founded The Chromosome 18 Registry and Research Society, and, eventually, the Chromosome 18 Clinical Research Center, which is the world's only center dedicated specifically to the study of chromosome 18 conditions. Cody, who now has a PhD and is a professor in the Department of Pediatrics at UT Health San Antonio, also leads a study of more than 700 people with chromosome 18 disorders that she hopes will lead to treatments that further improve their lives.
"It's a lifetime longitudinal study. So we do genetic testing, analysis, and set up a cell line. We have a tissue bank. And we try to learn everything we can about their lives."
The first goal is to create standards of care for people with chromosome 18 disorders. Cody's daughter, Elizabeth, was born with a cleft palate, and surgeries to repair it didn't heal well because doctors did not know that people with 18q- are deficient in growth hormone. Now they do, and it changes the standard of care for surgery and healing. Cody explained that they have compiled everything they have learned into clinical management guides for clinicians.
"But that's not enough," she said. "All the management guides do is employ standard medical treatments that we know about today; how to treat irritable bowel syndrome or growth hormone deficiency or whatever. But we're also learning what we can about the genetics. We know that learning more about genetics will give us more insight into the nature of some of the problems, and we can develop new drug therapies."
Cody also plans to track what happens as those with chromosome 18 disorders age. "Are they predisposed for things that, if you knew about it early enough, you could prevent it or at least help the condition?"
Cody's daughter recently celebrated her 41st birthday, and Cody said perhaps the greatest challenge Elizabeth has faced has not come directly from having 18q- syndrome. It's come from low expectations.
"People see she has a chromosome abnormality, and suddenly she can't do anything. She can't learn, she can't run—and their expectations become so low," Cody explained. But Elizabeth has flourished, despite this. She has a job she loves and a passion for Scottish dancing. "This girl's gotten me into more things that are so much fun that I never would've expected," she laughed.
Cody's work has revolutionized the world's understanding of chromosome 18 conditions, but for her, there is profound personal value in what this work means for new parents like she once was. "Instead of being handed a book with a very long list of all kinds of scary problems, we can give them a much shorter list and hopefully some guidance on what to do."
She added that she and the other families that have worked alongside her now for decades are not done yet. " When we go to Washington, we tell policymakers our goal is to make our kids not able to qualify for SSI (federal financial assistance for people with disabilities), because why not?"
"I mean, it's just biology," Cody concluded. "And if it's just biology, we can figure it out. And we will."
