Parents of children with the serious genetic disorders Trisomy 13 and Trisomy 18 (T-13 and T-18) may get widely varied views of their child’s prospects from their physicians and from other parents in online support groups. That’s the main finding of a study published Monday morning in the August issue of the journal Pediatrics.
T-13 and T-18 are abnormalities in which a person has an extra copy of a chromosome, either the 13th or 18th. T-18 received widespread media coverage early this year because then-presidential-candidate Rick Santorum’s daughter Bella has that disorder. Despite repeated hospitalizations and health problems, Bella has lived past age three, which is uncommon. Almost half the children born with the condition die within the first three months of life, and 90 percent die in the first year, as I reported in January.
In the new study, researchers led by Annie Janvier of the Department of Pediatrics and Clinical Ethics at the University of Montreal surveyed parents who participated in Internet-based support groups for families of children with T-13 or T-18. Of the 332 respondents (mothers and fathers of 272 children), 87 percent said they’d been told by a physician that their child’s condition was “incompatible with life,” 57 percent said they’d been told their child would “live a life of suffering,” 50 percent reported being told their child would be a “vegetable,” and 23 percent were advised the child would ruin their marriage.
On the positive side, 60 percent said a physician had said their child would lead a short but meaningful life.
The paper acknowledges that most parents opt to terminate pregnancy upon learning that their baby has one of these genetic defects. But in this study, 98 percent of parents who chose otherwise reported that, despite financial and emotional hardships and their child’s physical challenges, their family’s experience living with a child with T-13 or T-18 had enriched their lives. And 97 percent described their child as being happy.
The study finds that information about T-13 and T-18 conveyed through online support groups may be more positive than that delivered by physicians and that doctors ought to be aware of these non-medical information sources.
Another paper in Monday’s Pediatrics discusses advances in care for children born with spina bifida that have improved outcomes, prospects and quality of life for people with that birth defect. Author Lisa Pruitt, an associate professor of history of Middle Tennessee State University, suggests that dim views of such patients’ prospects have historically shaped physicians’ and parents’ decision about their care. Pruitt concludes that “Children and adults successfully living with spina biﬁda are often portrayed as having miraculously overcome the odds. In reality, the odds have been misrepresented in ways that have cost countless born and unborn lives and sometimes negatively shaped the experiences of those who live with spina biﬁda.”