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Bella Santorum and Trisomy 18: Care has shifted for genetic disorder

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February 03, 2012|By Deborah Kotz

Presidential hopeful Rick Santorums daughter Bella has Trisomy 18. (Gene J. Puskar/AP/File…)

Republican presidential candidate Rick Santorum stepped off the campaign trail a week ago to be with his 3-year-old daughter, Bella, who was hospitalized with pneumonia. Bella was born with a devastating genetic disorder, Trisomy 18, which means she has an extra, third copy of the 18th chromosome.

Nearly half of children born with the condition die within the first three months, and 90 percent within the first year. In fact, Santorum has said in media interviews that he was told not to expect Bella to live beyond her first birthday, calling her road to recovery from the recent pneumonia a “miraculous turnaround.’’

Usually diagnosed early enough in pregnancy for abortion to be an option, Trisomy 18 occurs in just 1 in 5,000 to 1 in 10,000 live births.

“Many people are familiar with Down syndrome, another trisomy disorder, but babies with Trisomy 18 are generally more intellectually disabled than kids with Down syndrome,’’ said Dr. Mira Irons, associate chief of genetics at Children’s Hospital Boston.

Many kids with Trisomy 18 who live beyond a few months never walk or talk, and they require constant care.

But there’s been a shift, Irons added, in how physicians address medical problems in those born with the condition. “When I first started my training, quite often, we just provided supportive care,’’ she said, rather than putting a baby through major surgery to repair organ problems that often accompany the disorder like a heart or liver defect. “Over the past five to 10 years, that practice has really changed.’’

Many now undergo extensive surgeries, which increases their odds of living past their first birthdays, and some, aided by extensive therapy, learn to communicate on a basic level with their loved ones. “I’ve heard parents say their kids are happy in their own way and are leading well-cared-for, meaningful lives,’’ said Irons.