Sandy Schindler and her son, Connor Blundin.
Dr. Judith Ross, director of the XtraordinarY Kids Program at Alfred I. duPont Hospital for Children with Connor.
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The help started with growth hormones that allowed Megan to reach 5 feet. When the time came, Megan was given estrogen replacement therapy to bring about the onset of puberty. Now Megan considers herself the same as her teenaged girlfriends, with one exception: “I don’t have mood swings,” Megan 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, we well as learning disabilities. Megan has escaped all of those complications. She is a straight-A student in the top 10 percent of her senior class at Perkiomen Valley High School and plans on attending college next year.
Connor had more difficulty coping with his chromosome variation. His early childhood was marred by side effects from medication that a psychiatrist prescribed for mood swings. Instead of controlling them, the medication put Connor on an emotional roller coaster that left his mother and stepfather, Sandy and Kevin Schindler, reeling. Andrew Blundin is 7 years older than his brother and no pipsqueak, but even he had trouble controlling Connor’s physically aggressive rages.
That behavior is a thing of the past for Connor. He is now part of the Emmaus program for kids with learning differences at Saint Mark’s High School. Connor 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.”
He’s not wrong. What Connor jokingly calls his “genetic mutation” is, on the surface, not very different from Asperger’s and other learning disabilities. Connor has chosen to speak openly about his syndrome so that he can help kids like him. He started by telling a handful of his close friends—even girls—that he has a chromosome variation.
Sandy and Kevin Schindler have become advocates for other kids like Connor, an effort that culminated in the eXtraordinarY Kids Program, which they organized and fund. They chose Nemours to house the program because Ross is Connor’s endocrinologist.
Joining Ross on the eXtraordinarY Kids comprehensive care team are other endocrinologists, developmental pediatricians, geneticists, psychologists, physical and occupational therapists, speech pathologists and social workers. Another component of the clinic is a parental support group. “There is such a lack of information about these disorders, even on the Internet,” Sandy Schindler says. “We want to help other parents and their kids deal productively with their diagnoses and treatments.”
Megan Gentleman’s mom echoes the need for information and parental support, and she is no stranger to medicine. Mary Gentleman is a registered nurse and coordinator of childbirth education at Main Line Health. What binds these women is what they experienced when their kids were diagnosed. Panic, fear, sadness, guilt are words they use to describe their emotions during those first days, months and years.
To help, Ross offers something called “anticipatory guidance” to inform parents of what their kids will experience and how to help them through it. Knowledge is power, but it can also induce guilt.
“Parents almost always ask if they did something to cause the disorder,” Ross says. “There is no environmental cause, and this is not an inherited condition. We call it ‘an event in nature’ because we don’t know the reason it happens.”
What Ross does know is that a comprehensive program like eXtraordinarY Kids is needed and that it works. Connor is her proof. “He’s doing so well,” she says with a mix of professional pride and grandmotherly affection. “I’m so proud of the young man he has become. My hope is to help other people with these disorders. We need more Connors in the world.”