By Jenifer Goodwin
MONDAY, July 23 (HealthDay News) -- When Vanessa Hernandez's sixth child was born, she knew right away her daughter was different.
Hernandez's pediatrician wept as she told her the diagnosis. The baby had trisomy 13, a devastating chromosomal abnormality. Most children die before their first birthday and have serious mental and physical disabilities, including heart and breathing problems.
Hernandez's daughter, now 19 months old, hasn't had an easy time. She's had seizures, has a tracheotomy to assist her with breathing and has been fed mostly through a feeding tube.
Despite the hurdles, Isabel is a source of great joy to her family, Hernandez said. Isabel smiles and laughs frequently, and there are no indications she is in pain. Her parents celebrate small achievements. Isabel's five siblings love her fiercely. "She gets the most love in the house. They are very protective of her. Nobody leaves the room without giving her a hug and a kiss," Hernandez said.
Though many people believe that raising child with severe birth defects would be more than they could bear, many parents of children with severe disabilities say that couldn't be further from the truth.
In a new study, nearly all -- 97 percent -- of 332 parents of children with trisomy 13 or trisomy 18, another chromosomal abnormality that can cause similarly severe problems and shortened lifespans, described their child as "happy." Parents also said that no matter how short their lives, their child enriched their family.
"Despite the fact that often these children live less than a year and they are disabled, families find they are happy children. They find joy in their children. They enrich the family, enrich the couple and the child's life had meaning," said study author Dr. Annie Janvier, an associate professor of pediatrics and clinical ethics at University of Montreal. "None of the parents said they regretted not terminating the pregnancy. None said the life was unworthy of living. All of the parents reported the quality of life of their child was a good quality of life."
But that's not always what doctors tell parents to expect, according to the study in the August issue of Pediatrics. Many parents -- 87 percent -- were told their child's condition was "incompatible with life," 57 percent were told their child would live a life of suffering, 50 percent were told their child would be a "vegetable" and 23 percent were told their child would "ruin their family."
The medical community, including the American Academy of Pediatrics Neonatal Resuscitation Program textbook, recommends against resuscitation for trisomy 13 and 18.
Dr. Roya Samuels, a pediatrician at Cohen Children's Medical Center in New Hyde Park, N.Y., called the research "eye-opening." Physicians need to present objective information and statistics on what parents should expect with trisomy 13, 18 or other congenital conditions for that matter. But those numbers, she added, need to be tempered with compassion, an understanding that quality of life is highly subjective and that parents may readjust their own beliefs about what constitutes quality of life after the birth of their child.
"There are a lot of lessons for pediatricians and health care professionals to learn. It highlights the divide that there is between the physician and the patient," Samuels said. "Sometimes the physician can be a little bit too objective, a little bit too harsh with statistics and invoking the element of fear when it comes to delivering news of a diagnosis like trisomy 13 or 18."
Rick Santorum, who recently ran for president, spoke about his youngest daughter, Bella, who was diagnosed at 5 days old with trisomy 18, in a campaign video. "We felt blessed that we had Bella, yet we were told by the medical community, 'Why do anything? Just let her go.'"
Santorum went on to say, "We felt we owed her the opportunity, the chance to do as well as she could. Over the past few years, she has been a wonderful, joyful, center of the universe, if you will, for our family."
That sentiment isn't unusual, said Barbara Farlow, a study co-author and mother of nine from Toronto who gave birth to a daughter with trisomy 13 in 2005. The condition was detected by a prenatal test at 21 weeks. An engineer and financial analyst, Farlow considered terminating the pregnancy -- she had a busy life with five typically developing kids who excelled in school and sports.