Republican presidential hopeful Rick Santorum temporary left the campaign trail this week, in order to care for his daughter, Bella. She has a chromosomal disorder called Trisomy 18. Bella is now in the hospital, recovering from pneumonia. How much do you know about Trisomy 18?
Isabella Santorum, who is called “Bella”, is three years old. She is the youngest of Rick Santorum’s children. This week, Bella got sick from pneumonia, and was hospitalized at Children’s Hospital of Philadelphia. Rick Santorum temporary left the campaign trail to care for his daughter, and then returned to it after Bella’s health started improving.
Bella was born with a chromosomal disorder called Trisomy 18. What is it? It is a genetic disorder in which a person has a third copy of genetic material from chromosome number 18. Normally, people have two copies of that portion of the chromosome, not three.
Trisomy 18 is a condition that a child is born with. The word “trisomy” refers to the three copies. This disorder is also called Edwards syndrome, after the British physician and geneticist John Edwards, who first discovered the extra chromosome that causes Trisomy 18.
Pregnant women who are receiving prenatal care can have a noninvasive test done during their first trimester that will screen their fetus for Trisomy 18, (and Trisomy 21, and Down Syndrome). The screening involves a blood test and an ultrasound.
The test can help determine the risk that the fetus has any of those disorders, based on an assessment of certain risk factors. Further genetic tests can be preformed, if needed. If the testing determines that a woman is carrying a baby with Trisomy 18, (or the other chromosomal disorders that the test screens for), the woman has the option of continuing, or terminating, the pregnancy.
The extra genetic material on chromosome 18 interferes with normal development. Often, a mother who is carrying a baby who has Trisomy 18 will have a miscarriage. The National Institute of Health estimates that half of infants who are born with Trisomy 18 do not survive past their first week of life.
Robert Marion is the chief of genetics and developmental medicine at the Children’s Hospital at Montefiore Medical Center in Bronx, New York. He estimates that nearly half of the children who are born with Trisomy 18 die within their first three months of life, and that 90% die within their first year. The remaining 10% who survive have severe developmental problems. Bella is three years old, and has beaten the odds.
Symptoms of Trisomy 18 can include congenital heart disease (which can lead to congestive heart failure). This makes the child’s lungs especially susceptible to catching pneumonia. Other symptoms include severe cognitive impairments, physical malformations of the hands, feet, ears, and head, and kidney problems.
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