Nemours’ eXtraordinarY Kids Program Treats Young Patients with Chromosome Disorders
A Chadds Ford boy and a Collegeville girl describe their experience with genetic disorders.
Letters Game: Sandy Schindler with her son, Connor Blundin, at Nemours/Alfred I. duPont Hospital for Children//Photos by Tessa Marie Images.
Kids aren’t likely to bully Connor Blundin. At 16 years old, he’s well over 6 feet tall and built like a lumberjack. Oddly enough, his size is the result of being born with an extra female chromosome.
Blundin’s case is being tackled by the eXtraordinarY Kids program at Nemours/Alfred I. duPont Hospital for Children. Opened in September, it’s among just three comprehensive clinics for X and Y variations in the United States.
Typically, humans have 46 chromosomes, with male patterns of XY and female XX. In genetics lingo, that’s 46,XY and 46,XX. People with genetic variations are either missing a chromosome or have a 47th chromosome with an extra X or Y. There are four kinds of X and Y disorders—a pair each for boys and girls. “Males have 47,XYY or 47,XXY, the latter is Klinefelter’s syndrome—and that’s what Connor has,” says endocrinologist Dr. Judith Ross, director of eXtraordinarY Kids. “Females can have 47,XXX or 45,X, which is Turner syndrome.”
More than 75 percent of such conditions go undiagnosed, says Ross. Testing for X and Y variations is done via a routine blood draw and chromosome analysis called karyotyping. (It can also be done prenatally as part of DNA testing.) In the absence of these tests, diagnosing X and Y variations can be troublesome because many symptoms—learning disabilities, ADD, lack of social skills—mimic those of other disorders.
Added to that is a stigma about X and Y chromosome variations. X and Y are sex chromosomes, but people with X and Y disorders aren’t necessarily homosexual or transgender, nor are they hermaphrodites. The disorders do, however, affect a body’s output of male and female hormones. “Estrogen is deficient or entirely absent from girls with these disorders, and the same is true of testosterone with boys,” Ross says. “That can lead to physical and developmental delays.”
Girls with Turner syndrome (45,X), for example, are born without ovaries. “They get menstrual cycles because the uterus is normal, but the ovaries are streaks of fibrous material,” Ross explains. “With estrogen-replacement therapy, they can undergo normal development. With a donor egg, they can carry a fetus.”
Girls with Turner syndrome tend to be short, which Ross defines as 4-foot-9. Through growth-hormone therapy, they can get taller. Every inch is precious, says Megan Gentleman, a 17-year-old from Collegeville. Gentleman’s lack of height made her parents suspect something was different about her. “She was the size of a first-grader when she was in third grade,” says her mother, Mary. “By age 8, she stopped growing entirely, and we started looking for answers.”
After testing showed that Gentleman has Turner syndrome, she became one of Ross’ patients. Her mother recalls their first appointment. “I said, ‘Is my daughter going to die?’” she says. “Dr. Ross looked me right in the eye and said, ‘She is not going to die. She just needs extra help, and we will give it to her.’”
It started with growth-hormone therapy, which allowed Gentleman to reach 5 feet. She was given estrogen-replacement therapy to start puberty.
Gentleman considers herself the same as her girlfriends, with one exception. “I don’t have mood swings,” she says with a laugh. “It could be because I don’t biologically produce estrogen. Maybe there’s an advantage to Turner’s, after all.”
Girls with Turner syndrome can develop cardiac, vision, hearing and kidney problems, along with learning disabilities. Gentleman has avoided such complications. She’s in the top 10 percent of her senior class at Perkiomen Valley High School and plans on college next year.
Tall Order: Dr. Judith Ross, director of Nemours’ eXtraordinarY Kids program, with her patient, Connor Blundin.
Connor Blundin had difficulty coping with his chromosome variation. His early childhood was marred by side effects from medication that a psychiatrist prescribed for mood swings. It prompted an emotional roller coaster that left his mother and stepfather, Sandy and Kevin Schindler, reeling. Seven years older than his brother, Andrew Blundin had trouble controlling Connor’s physically aggressive rages.
But that’s now a thing of the past. Connor is in the EMMAUS program for kids with learning differences at Saint Mark’s High School in Wilmington, Del., a short ride from his home in Chadds Ford. And he is doing well academically. “Not great, not terrible, but somewhere in the middle,” is how he puts it. “I get academic support at school—but so do a lot of other kids. It seems like everybody’s got something these days.”
The Schindlers have become advocates for kids like Connor. It’s an effort that culminated in eXtraordinarY Kids, which they organized and also fund.
Joining Ross on the eXtraordinarY Kids team are other endocrinologists, developmental pediatricians, geneticists, psychologists, physical and occupational therapists, speech pathologists, and social workers. Another component is a parental support group.
“There is such a lack of information about these disorders,” says Sandy. “We want to help other parents and their kids deal productively with their diagnoses and treatments.”
Ross explains to parents what their kids will experience and how to help them. Knowledge is power, but it can also bring guilt. “They almost always ask if they did something to cause the disorder,” Ross says. “There’s no environmental cause, and it’s not an inherited condition. We call it ‘an event in nature.’ We don’t know the reason it happens.”