Doctors who treat children with rare conditions sometimes seek guidance from online chat groups where families relate their experiences with the disorders.  While gleaning medical information from the Internet is often considered unreliable, doctors may find themselves in a quandary: Scientifically validated recommendations on many uncommon conditions are sparse, and published results are sometimes out of date or based on a tiny number of cases. Instead, real-world experiences posted by families of patients on social media may offer a broader perspective on potential outcomes.  Deciding a course of treatment when it involves children with rare conditions can be particularly challenging. Doctors aim to save or improve lives while trying to minimize suffering. Concerns about health-care resources and ethical practices also often enter the picture.  Doctors typically make decisions on how to treat patients based in part on recommendations from medical groups, which usually stem from research or professional discussions. Health-care institutions may develop their own approaches based on cases their doctors have treated. When there is a gray area, parents’ views are also an important factor.  Sometimes there isn’t enough information. John Lantos, a pediatrician and director of the Children’s Mercy Bioethics Center in Kansas City, last year saw a baby, Chloe Gerling, with mosaic trisomy 22, a rare genetic condition that can cause developmental delays, heart problems, and other issues. At age 8 weeks Chloe had a choking episode, which led to complications. Doctors weighed whether to create an opening in her trachea to insert a breathing tube. Some on the medical team worried Chloe might not survive to leave the hospital, or that the procedure might prevent her from getting other surgeries she might need.  Chloe’s parents, Jodie and Alan Gerling of Manhattan, Kan., wanted to go ahead with the procedure.  Dr. Lantos says when he looked up data on mosaic trisomy 22 in medical literature, he found only a small number of reported cases, many involving patients that had fared poorly. The Gerlings directed him to a Facebook FB 2.70 % group comprised of 107 families where people discussed their children’s experiences and how they fared. The Facebook group had far more families than “what was in the entire peer-reviewed medical literature and the children had a much wider range of outcomes,” Dr. Lantos says.  Information on a chat group can be limited, Dr. Lantos noted. Perhaps some parents whose babies die don’t join the group, or people whose children are doing well post more. The information isn’t independently vetted and interventions aren’t tested in trials. Still, he says, the additional data from families reinforced his view that it was ethical to support the parents’ desire to do the procedure.  Some patient-advocacy groups have had their collected experiences published in a scientific journal to lend greater scientific weight to the findings.  Barbara Farlow had a child who died at the age of 80 days from trisomy 13, another rare genetic disorder that causes severe developmental disabilities. She says doctors often recommend against surgery, resuscitation and other possible life-extending interventions because of the high death rate. Most children with the condition die in the first year of life.  Many parents, she says, turn to Internet social networks and find different information than what is in the medical literature. It suggests some children can benefit from aggressive medical interventions.  Ms. Farlow, who lives outside of Toronto, teamed with two doctors from the University of Montreal and the University of Washington School of Medicine to publish a paper in the journal Pediatrics in 2012. The researchers collected data from 332 parents of about 272 children with trisomy 13 and trisomy 18, another genetic condition.  Forty percent of the children in the study lived longer than one year, much higher than what had appeared in previous published population studies.  Karin Muraszko, chairwoman of the department of neurosurgery at the University of Michigan, says she often talks to parents about how to treat children with challenging conditions, including spina bifida, in which a baby’s spinal cord doesn’t develop properly. Dr. Muraszko, who has a mild form of spina bifida, says chat groups and other Internet sites provide parents with practical advice on living with spina bifida, including how to deal with catheters.  “But to call it data is not really fair,” she says. “There is a lot of misinformation in the blogosphere.”  Mr. Gerling says he and his wife thought hard before deciding to put Chloe through the tracheal surgery. “We struggled with, do we do it or do we let her go,” he says.  The couple say they based their decision on all the information available. Chloe survived the surgery, which was performed in July 2014, and she was able to go home. Mr. Gerling says they recognize Chloe faces serious health issues associated with having one kidney, a cleft palate, and a three-chamber heart that will require surgeries.  Chloe’s two older siblings, ages 5 and 3, enjoy making their sister laugh, says Ms. Gerling. “Having a family dinner together while Chloe is in the room with us is huge,” says Ms. Gerling. “That is the stuff we were told we would never get and we enjoy it daily now.”  Write to Amy Dockser Marcus at amy.marcus@wsj.com
Doctors learn about patient experiences with rare conditions from websites—sometimes information goes beyond what is in medical literature.