Parents Defy Gloomy Medical Predictions

Trisomy 13 and 18 children and their parents lead rewarding lives

/ Author:  / Reviewed by: Joseph V. Madia, MD

(RxWiki News) Trisomy 13 and 18 are chromosomal disorders, like Down's syndrome. Some parents may feel devastated when they learn their baby has such a disorder, but the reality holds much more optimism.

A recent study has found that children with trisomy 13 or trisomy 18 - and their families - live happy, fulfilling lives.

"Seek support groups for children with a chromosomal disorder."

The study, led by Annie Janvier, MD, PhD, a neonatologist at Sainte-Justine University Hospital Center and co-founder of the Pediatric Clinical Ethics Master's program at the University of Montreal, was co-authored by a woman who knows firsthand about the experience of raising a child with a chromosomal disorder. Second author Barbara Farlow, MSc, lost her child to trisomy 13.

The women interviewed 332 parents who live or have lived with a child who had trisomy 13 or trisomy 18, both genetic disorders that occur at conception.

A child with trisomy 13, also called Patau syndrome, has three copies of chromosome 13 instead of just two. About 1 in every 10,000 newborns has trisomy 13, but over 80 percent die within their first year.

Children with trisomy 18, also called Edwards syndrome, have three copies of chromosome 18. About half of the 1 in 6,000 babies born with trisomy 18 make it past their first week of life, and only a few make it to adolescence.

Among the families interviewed, 272 children had one of these trisomy disorders, and many of the families had been distressing warning by medical providers about their children.

The study revealed that 50 percent of the parents had been told their child would be "a vegetable," and 57 percent were told their child would lead "a life of suffering."

Almost a quarter (23 percent) were told that having a child with one of these disorders would "ruin their family or life as a couple."

But these warnings did not match up with the actual experiences of the families. In fact, 97 percent of the parents interviewed believed their child was happy and said their child had enriched the life of their families and their relationship as a couple.

In the study, 87 percent of the parents had been told their child would be "incompatible with life," a term used to say that their child would not survive.

Though technically true, the term disturbed many of the parents, who cherished their child regardless of how much time they had with them and who became frustrated with medical professionals who viewed their baby as only a diagnosis.

"Our study points out that physicians and parents can have different views of what constitutes quality of life," Dr. Janvier said. "In the medical literature on all handicaps, disabled patients – or their families – rated their quality of life as being higher than caregivers did."

Dr. Janvier said that the parents reporting experiencing what they perceived to be prejudices from the medical system for choosing to carry their babies to term.

Because both conditions are usually diagnosed before birth and involve lifelong disabilities, many parents choose not to continue with the pregnancy.

The parents who continued with the pregnancy were frustrated with the treatment they perceived by medical professionals who opted not to view their child as a unique individual like any other.

Dr. Janvier added that joining a support group enhanced the experience of parents who had a child with a trisomy disorder.

"Our research reveals that some parents who chose a path to accept and to love a disabled child with a short life expectancy have experienced happiness and enrichment," she said. "My hope is that this knowledge improves the ability of physicians to understand, communicate and make decisions with these parents."

The study was published July 23 in the journal Pediatrics. Information was not available regarding funding. Farlow had a child with trisomy 13 who died. No other information was available regarding potential conflicts of interest.

Reviewed by: 
Review Date: 
July 22, 2012
Last Updated:
February 5, 2013