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

By Deborah Kotz, Globe Staff

Republican presidential candidate Rick Santorum stepped off the campaign trail last weekend 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, “and those with Trisomy 18 often have more severe health problems in their major organs like the brain, liver, and heart.”

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 a heart or liver defect. “Over the past five to 10 years, that practice has really changed and more of a discussion occurs between physicians and parents over how much care will be provided to these kids.”

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.

In a Phildelphia Inquirer column, Santorum described Bella in this way: “All children are a gift that comes with no guarantees ... While Bella’s life may not be long, and though she requires our constant care, she is worth every tear.”

Deborah Kotz can be reached at dkotz@globe.com. Follow her on Twitter @debkotz2.