Beautiful Bella: Trisomy 18 and Rick Santorum’s Daughter

Republican Presidental candidate Rick Santorum had to abandon the campaign trail in late January when his three-year-old daughter Isabella Maria, who suffers from the serious genetic disorder Trisomy 18, was hospitalized with pneumonia of both lungs. Shortly after Bella’s birth, Santorum and his wife Karen were informed by the baby’s doctors that their daughter had Trisomy 18, and that Bella would probably not reach her first birthday. Choosing to remain upbeat, the Santorums informed the doctors that “we were not going to concentrate on her dying, we’re going to concentrate on her living, and do everything we can to help her.”

What is Trisomy 18?

Trisomy 18, also known as Edwards syndrome, is the second most common genetic disorder caused by a chromosomal defect after Trisomy 21. It occurs in 1 in 6000 live births the majority of which are female. Trisomy 21 by contrast occurs in 1 in every 733 live births. Unlike Trisomy 21, or Downs syndrome, which numbers among its victims Sarah Palin’s son, the developmental issues associated with Trisomy 18 include medical complications that are more life-threatening in the early months and years of a child’s life. Fifty percent of the babies afflicted with this disorder will be stillborn, with male babies suffering a higher stillborn rate than baby girls.

Some children afflicted with Trisomy 18 will eventually be discharged home with their families, provided in-home nursing care for the child has been put into place. Although less than ten percent of these children reach one year of age, some live on for many years at home with their families, reaching milestones made all that more poignant by how stacked the odds are against them.

Cause of Trisomy 18

During conception, twenty-three chromosomes from each parent combine to create an embryo with forty-six sets of chromosomes per cell. A Trisomy 18 occurs when a child has three # 18 chromosomes instead of the usual two. It cannot be stressed enough that the parents have done nothing either before or during the pregnancy to cause this disorder in their offspring. However, the incidence does increase as the age of the mother increases with the average age of the mothers being just 32 1/2.

Characteristics of Trisomy 18

The genetic material from the extra eighteenth chromosome can cause a host of problems of varying severity. Just as children with Down syndrome can range from mildly to severely affected, the same holds true for children with Trisomy 18.

Typical characteristics of this syndrome include:

Heart defects

Kidney problems

Part of intestinal tract located outside the stomach

Clenched hands

Fluid on the brain

Rocker bottom feet

Delayed growth

Small jaw

Small head

Longevity and Trisomy

A small number of afflicted children, usually females, reach adulthood. Some are living into their twenties or thirties; though admittedly with severe developmental disabilities that do not allow them to live independently.

A study of Trisomy 18 sufferers ranging in age from eight to thirty-three shows that these individuals function at infant-to-toddler level. They can sometimes ambulate with the aid of a walker for short distances, but in most cases are confined to a wheelchair. Communication is limited to vocalizations and facial expressions, and most are fed via tube feedings.

This, of course, matters little to their loving family and friends. To quote Rick Santorum, “Some people describe people like Bella as disabled children … I look at the joy, the simplicity and the love that she emits and its clear to me that we’re the disabled ones. Not her … she’s got it right.”

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