TORONTO - A new Canadian study drawing on the experiences of parents paints a dramatically different picture than that in medical literature of the short lives of infants born with the congenital anomalies Trisomy 13 and Trisomy 18.
Medical textbooks are grim and bleak about babies born with genetic codes considered "incompatible with life." But the study says parents who have these children speak of the joy found in what is almost inevitably a short lifespan. These children, they say, can enrich a family rather than destroy it.
An ethicist who was not involved in the study says the findings point to a need to change the messages given to parents-to-be and new parents facing the reality of a baby with T13 or T18, as the conditions are called for short.
"This study should have us stop and think about what decisions, for which children, have been made on the basis of misinformation," says Francoise Baylis, a professor of bioethics and philosophy at Dalhousie University in Halifax.
"The negative narrative needs to change. Parents' experiential knowledge matters and should be available to expectant parents and new parents."
The study, by ethicists and the mother of a child born with Trisomy 13, is published in this week's issue of the journal Pediatrics.
Trisomy 13, which is also called Patau syndrome, is a genetic disorder in which a person has three copies — instead of the usual two — of genetic material from chromosome 13 in all the cells of their body. Trisomy 18, also known as Edwards syndrome, is a similar condition where the genetic abnormality relates to chromosome 18.
Both can lead to multiple malformations and health problems. Traditionally few children born with these conditions have survived beyond childhood; when they do, they suffer from severe medical and developmental problems.
Those realities have led the medical community to almost universally advise against offering anything but palliative or comfort care to babies born with T13 or T18. The assumption is their lives will be short — sometimes a matter of days or weeks — and pain-filled, and that it is best for all involved not to try to prolong their lives with invasive care.
In fact, prenatal genetic testing that shows a fetus is carrying T13 or T18 triggers sombre discussions about babies who are so profoundly disabled they break up marriages and ruin family finances. It's acknowledged that many women choose to terminate these pregnancies. And of those women who don't know of the diagnosis or choose to continue with the pregnancy despite it, many will either suffer a miscarriage or give birth to a stillborn infant.
Barbara Farlow, a Toronto area woman, gave birth to her daughter Annie in 2005. Annie, Farlow's 10th child, was born with T13. Farlow says she and her husband were realistic about their daughter's condition, but wanted to love and care for her for as long as she could survive.
"We didn't want our daughter to live on life support or to suffer. But if she had a chance to live comfortably and be happy . . . then we were willing and able to care for her, despite her limitations," says Farlow, who is also an author of this study.
Annie lived for 80 days. When an illness brought her back into hospital and she stopped breathing, the staff was slow to try to resuscitate her, despite her parents' wishes. Later, Farlow and her husband discovered Annie's medical file had a DNR — do not resuscitate — order on it, even though they hadn't authorized it.
They attempted to sue, but eventually gave up the case. But Farlow's belief that parents of these children may want more options than they are routinely being offered provoked her research partnership with Dr. Annie Janvier on the study.
Janvier is a neonatologist and clinical ethicist at Ste-Justine Hospital in Montreal.
She had raised questions about the care offered to these children at a medical meeting Farlow attended. Janvier suggested that perhaps doctors ought to consult parents before assuming these children's lives don't have meaning and before making policy decisions based on that assumption.
The study notes that the American Academy of Pediatrics Neonatal Resuscitation Program and the American Heart Association guidelines recommend against resuscitating children with these conditions.
After the meeting, Farlow approached Janvier to urge her to get the views of parents, pointing her to about 18 online communities. A research project was born.
Over 300 parents completed the survey the team drew up, reporting on the experiences of 272 children.
Most reported they'd been given a bleak picture of what their child's life would be. And half of those whose child lived longer than three months acknowledged that looking after a disabled child was harder than they had anticipated.
But only three per cent reported that their marriages split up over the experience. Nearly all the parents described their T13 or T18 children as a happy child, and said they were able to communicate with them to understand their needs.
And virtually all the parents reported that the child had enriched their lives. In most families where there were other children, parents reported the T13 or T18 child had a positive effect on the siblings.
"What we predicted as doctors happening to all these families didn't happen," says Janvier, who admits the findings are receiving a lukewarm response in some quarters.
She wants parents-to-be and new parents to be given a fuller picture of the experience with a T13 or T18 child. She knows many will still choose to terminate such a pregnancy or opt for comfort care only if they do give birth.
"I'm not saying you should never terminate for these diagnoses or palliative care should be forbidden for these diagnoses. I just want to show that these kids mean something to their parents," Janvier says.
"And they seem like they have a quality of life that's acceptable. Doctors are not torturing them. We're not giving them undue pain. And they should be treated as unique children."
Farlow says presenting a fuller picture isn't likely to mislead would-be-parents about the lives of these children.
She suggests people who are trying to figure out what to do often make contact with parents through one of the Internet communities. With videos on YouTube and pictures on Facebook, people get an accurate idea, she says.
"The level of disability is quite clear. It's easy to grasp," says Farlow. "There's no rosy picture that's made about that."
She hopes, though, that the study will help the medical community come to understand that there is more to these children than their current treatment reflects.
"It's not easy, especially in our culture. But at least if they can meet the parents at saying 'I do understand that this can be positive for people' then I think that the communications will be better from there," Farlow says.
"And that's personally something that I really wanted to see resolved."