About one in four parents of children with a serious and often fatal genetic condition say they feel judged by doctors when they want life-sustaining treatment for their newborns, in a new study.
The majority of parents of children with an extra 13th or 18th chromosome - known as trisomy 13 or 18 - said doctors had told them their kids were "incompatible with life" or would "live a life of suffering" in the course of counseling against pursuing life-prolonging treatments.
"There are some valuable points that the medical establishment could take from this," said Dr. David Sweetser, chief of medical genetics at Mass General Hospital for Children in Boston.
"It's a delicate situation and I don't think you could make a generalized statement that these babies should never receive life sustaining treatment. Those types of interventions should be personalized," Sweetser, who was not involved in the new study, added.
In the U.S., the Centers for Disease Control and Prevention estimates trisomy 13 and 18 occurs, respectively, in about 1.3 and 2.7 of every 10,000 live births.
The genetic anomalies often result in miscarriage, and babies who are delivered have a combination of birth defects and health problems that include - among other things - sloping foreheads, deformed limbs, and neurological and heart problems.
About 90 percent die within a year of birth, according to the U.S. and Canadian researchers who published their results in the journal Pediatrics on Monday.
Parents may ask for treatments, such as being resuscitated and inserting breathing or feeding tubes, that may prolong their children's lives. The alternative is to make the child as comfortable as possible without any drastic treatments.
Some guidelines, including a textbook from the American Academy of Pediatrics, recommend against resuscitating a newborn with trisomy 13 or 18, researchers say.
Nonetheless, online support groups and networks for parents and families living with these conditions may offer parents views that differ from what doctors usually know about the conditions.
Some doctors' only experience with these conditions is from reading textbooks, which can be pretty grim, according to Dr. Benjamin Wilfond, of Seattle Children's Research Institute at the University of Washington.
"There is a broader range of survival and experiences than providers know. The parents may be getting this information online and clinicians may need to rethink what they say to parents," said Wilfond, the study's senior author.
"I think the point of our paper is to say these are quite serious conditions, but saying it's hopeless is inconsistent with reality," he added.
Full care vs. comfortable care
To find out what parents experience after talking with their children's doctors and seeking support through online groups, Wilfond and his colleagues - one of whom had a child who died with trisomy 13 - sent online surveys to 503 members of Internet support groups and networks for parents of children with trisomy 13 or 18.
Overall, 332 parents of 272 children in the U.S., Canada, UK and 12 other countries completed surveys (meaning, in some cases, both parents completed a survey).
Of those children, 216 had full trisomy 13 or 18, which is usually the most severe form of the conditions, compared to those whose cells may not all have an extra chromosome.
About a quarter of the children received full care, which can include resuscitation or other life sustaining treatments. Another half did not receive full care, which means they were just kept comfortable. The rest had a combination of the two.
Regardless of what type of care their children got, about 89 percent of parents said they felt their children's lives were positive.
At the time of the study 79 children were still living and the vast majority of parents said they were able to communicate with them and almost all said their kids were "happy."
Among parents who chose to have full care, nearly 40 percent felt "judged" by doctors.
Of all parents, half or more said they were told their children's lives would be "meaningless," the children would be "vegetables," or would "ruin" their marriages or families.
About 60 percent of parents, however, did say they were told their children may have a short, but "meaningful" life.
Overall, the researchers found that parents wanted doctors to treat their children as people by learning their names, offering to take pictures and referring them to other families or websites.
In some cases, parents said that doctors called their child "it" or "T13 or T18."
Sweetser told Reuters Health that a doctor not learning a child's name unfortunately happens.
"Part of what we would like to do is expand the imagination of the providers - based upon the data that is available - to a range of possibilities for these children," said Wilfond.
That being said, the study has some limitations, according to the researchers. Specifically, it does not capture the experiences of all parents of children with trisomy 13 or 18, just those in the online support groups. Also, the researchers do not have data on women who miscarry or get an abortion as a result of the condition.