Savior Parents

Jan

nine and John Cody were packing to move from Sheppard Air Force Base in Wichita Falls, Texas, to Brooks Air Force Base in San Antonio in 1985 when a military doctor gave them some devastating news. Their 6-week-old daughter Elizabeth was missing part of her 18th chromosome. To explain what that meant, the doctor showed Jannine a textbook with a horrifying picture and caption that she still keeps in her files. It read, "They are probably the most seriously afflicted among carriers of chromosome abnormalities. They maintain the froglike position observed in infants and are reduced to an entirely bedridden and vegetative life." The young mother was incredulous. "That just didn't jibe with what I was seeing," Cody vividly recalls. "It had been raining for a week, everything was wet, the packers were angry. I had a 3-year-old, a 6-week-old and a mother-in-law to deal with. I was on total overload, so I said to myself, O.K., this doesn't quite fit; she doesn't seem like a vegetable. I'll deal with that later."

Elizabeth's first year included three surgeries to fix a cleft palate and a cleft lip. By age 2, she had slipped far behind on the growth charts. Her pediatrician seemed to think that was inevitable, but her mother demanded that Elizabeth's symptoms be treated, a radical notion at the time. She took her daughter to an endocrinologist, who put Elizabeth on daily injections of human growth hormone, a therapy that caused her to grow like a weed and blossom developmentally as well. When Elizabeth had difficulty learning to speak, Cody pushed for her to see a neurologist, who determined that the problem had more to do with the impairment of her hearing than with her intelligence. The 3-year-old was fitted with a hearing aid and began learning sign language.

The journey to save Elizabeth took both mother and daughter to unexpected places. Cody went back to college and earned a Ph.D. in human genetics at age 42. Her dissertation topic: syndromes of the 18th chromosome. Today this former homemaker and president of her local embroiderers' guild conducts genetic research at the University of Texas Health Science Center. Her work has helped raise Elizabeth's IQ into the normal range and has provided a model for helping the approximately 500 other kids in the U.S. with the same defect. Cody also set up the Chromosome 18 Registry and Research Society — a foundation that connects affected families with one another and funds research.

This month Cody will reap a huge personal reward for her efforts: Elizabeth will graduate from high school. A few years ago, Cody sat watching Elizabeth's pep squad perform at a football game, wearing red, white and blue, the school colors. "Suddenly I'm watching, and I realize I can't pick her out of the crowd. She wasn't so bad!" says Cody. "I just burst into tears. I never ever thought I would see the day when she'd just be one of the girls in high school, out there on the field with all the other kids. It was amazing."

Being a parent brings out the most extreme traits in all of us — capacities for love, fear, persistence you never knew you had — and those traits are only magnified when a kid is in danger. You stay up all night when your daughter spikes a 101° fever. You drive across town in five minutes flat when your son falls out of a tree. But parenting a child who has a serious genetic disease transcends that entirely, as movies like Lorenzo's Oil have shown. It turns Clark Kents into Supermen and former science-phobes into experts in molecular biology. "For a long time in the pediatric community, [the attitude was] if you have a major chromosomal abnormality, you're going to not grow well, you're going to be developmentally delayed, you're going to be mentally retarded, and there's not a darn thing we can do about it," says Dr. Daniel Hale, a pediatric endocrinologist who works closely with Cody. These days the situation is different. At the molecular level, genetic diseases are better understood, and new avenues are opening for dealing with them, thanks in part to the advocacy of parents like Cody who embrace the notion that kids with chromosomal abnormalities have a right to reach their fullest potential.

Particular Clark Kents, of course, turn into particular superheroes because of varying talents and inclinations. Leslie Gordon and Scott Berns, for example, were both multidegree doctors — she has an M.D. and a Ph.D., he has an M.D. and a master's in public health — when a doctor friend diagnosed progeria in their 21-month-old son Sam, now 7 (the rare disease causes accelerated aging and often leads to death by early adolescence). The next day, Gordon took a leave from her training in pediatric ophthalmology. Within nine months, she created the Progeria Research Foundation to bring attention to and research funds for the disease, which affects just 1 in 4 million babies. "There was nothing out there. Zero," says Gordon from her home in Foxboro, Mass., her voice brimming with fierce enthusiasm. "I was surprised because as a doctor, you train, you train, you train, and when you get out there you realize there are holes."