When Rick Santorum cut short his campaign in Florida to be with his 3-year-old daughter Isabella, few people had even heard of the genetic disease she suffers from: Trisomy 18.
The condition is always fatal and children born with it rarely live past their first birthday.
But little Isabella “Bella” Santorum is already beating the odds. And experts say her case is not only raising awareness about the rare disease, but her ability to weather repeated health crises is a source of hope to other families coping with the condition.
“About 90 percent of children with Trisomy 18 die in the first year of life, so Bella is already kind of an exception to the main group of kids with it. She’s already beating the odds,” said Dr. Robert Marion, Chief of Genetics and Developmental Medicine at Children’s Hospital at Montefiore and Albert Einstein College of Medicine in New York.
In an interview with Newsmax Health, Marion added that children with Trisomy 18 who survive as long as Bella tend to do “fairly well, in terms of longevity,” though they have frequent health crises and suffer a range of physical and mental disabilities.
“Once they get past that first year, they can survive for a long period of time,” he said. “The oldest patient I am following at this point is 13.”
Santorum told Glenn Beck on his radio show Monday that his daughter had “rallied” on Sunday, bouncing back from the pneumonia that landed her in a Philadelphia hospital on Saturday.
“A simple cold can kill her, and it almost did this weekend. She ended up with pneumonia and a cold,” he said. “But she was able to get great care, and yesterday really made a great turn around. She will be out of the ICU today, and so we are getting back to normal here.”
Trisomy 18 — also called Edwards syndrome — is a rare genetic disease that causes severe mental and physical impairments. Like Down syndrome, it is caused by a chromosomal condition. Individuals born with it often have a low birth weight; a small, abnormally shaped head; a small jaw and mouth; clenched fists with overlapping fingers; heart defects; and abnormalities of other organs.
According to the National Institutes of Health (NIH), Trisomy 18 occurs in about 1 in 5,000 newborns — 80 percent of them are female. Although women of all ages can have a child with trisomy 18, the chance of having a child with this condition increases as a woman gets older.
Most cases result from having three copies of chromosome 18 in each cell in the body instead of the usual two copies. The extra genetic material disrupts the child’s normal development. Most cases are not inherited, but occur as random events during the formation of eggs and sperm, according to the NIH.
Dr. Marion noted children with Trisomy 18 are more prone to pneumonia, because the condition can cause congenital heart disease which in turn can lead to a dangerous buildup of fluid in the lungs. Doctors typically treat patients with Bella’s condition with antibiotics and oxygen, he said, but noted Trisomy 18 patients suffer bouts of health crises throughout their lives.
As was often the case with Down syndrome patients for many years, medical professionals advised parents against aggressive health care for kids with Trisomy 18, Dr. Marion said.
“The classic teaching is because it is a lethal condition — because it always ends in death — doctors shouldn’t do any extraordinary care in order to help these kids survive,” he said. “So it became a self-fulfilling prophecy: They didn’t do any care, and the kids didn’t survive.”
Today, however, that view is changing. As a result, Dr. Marion noted, some patients with Trisomy 18 are living longer.
“If these kids have heart surgery, their prognosis is much better,” he said. “If you take better care of kids who have what is believed to be a lethal disorder, they will survive for longer periods of time … and the 13-year-old I care for is living a good life.”
Santorum has spoken openly on the campaign trail about raising a special needs child. He and his wife Karen, and their other six children, have worn buttons featuring a picture of Bella at events.
On his campaign’s Website, Santorum has posted a video about the difficult choices and challenges Bella’s condition has posed since her diagnosis at 5 days old.
“We were told at the diagnosis that Bella’s life expectancy was a matter of hours and days,” he says. “And so we felt blessed that we had Bella. But yet we were told by the medical community: ‘Why do anything? Just let her go. She’s not going to be able to do much, she’s not going to be able to be like normal children, and so you should just let her go.’ ”
Santorum said that advice “angered us,” adding: “She was our daughter like every one of our children, and we were not going to let her go.”
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