Down syndrome diagnosis can be an "up" experience
Expectant parents Alisa and Mike Skatrud knew they were at elevated risk for having a child with Down syndrome, but opted not to pursue amniocentesis. They would have their baby no matter what.
At delivery, no one initially suspected Down syndrome. But because Lena showed signs of respiratory distress, she was sent to the neonatal intensive care unit for monitoring. Her parents went to pick Lena up, expecting to take her to the postpartum floor, but a clinical fellow came out and said, "We think your daughter may have congenital heart issues due to her Down syndrome."
The sudden, offhand revelation of Lena's Down syndrome shocked Alisa and Mike. The fellow seemed surprised they hadn't known. "He's flipping through charts, and we're crying," Alisa recalls. "It was a traumatic presentation."
Lena, who just turned 2, is one of about 200 children in the Down Syndrome Program at Children's Hospital Boston. The program aims to provide children with the best start possible, both medically and developmentally. From birth to age 3, the children meet every six months with a multidisciplinary team that includes a developmental pediatrician, a speech pathologist, a physical therapist, a nutritionist and an audiologist. The program coordinator helps connect the family with support groups and community resources.
Those connections are vital for new parents who often don't receive adequate information on Down syndrome after delivery and frequently hear the diagnosis presented in a negative way. In a recent study supported by the Tim White Fund at Children's, Harvard Medical School student Brian Skotko, BS, mailed an 11-page survey to nearly 3,000 members of Down syndrome parent groups. Of 1,250 responses, nearly 1,000 were from mothers who first learned of their child's diagnosis after delivery. Results appeared in the January Pediatrics.
Few doctors talked about the child's positive potential, mothers reported. While insensitive comments diminished over the decades, mothers often recalled being advised to put their child up for adoption, or, if older, chided for not having had prenatal testing. Many mothers were avoided and kept uninformed for hours. "They whisked the infant away to 'weigh her' because the 'scale broke'," wrote one. "My husband followed them around until they finally told him." Others got the news too abruptly or were overwhelmed with medical details before having time to absorb the diagnosis itself.
"Doctors have a tendency to describe every last thing that could go bad," says Skotko, who has a 24-year-old sister with Down syndrome. "But doctoring is an art, and the art is deciding when and how to give that knowledge."
Skotko has a few pointers. Present the diagnosis yourself as soon as you suspect it, coordinating with other clinicians. Wait until the mother is settled and both parents are together in a private setting. Start by congratulating the parents on the birth—not with an apology. Mothers with good delivery experiences recalled statements like "Your child will bring richness and warmth to your life," "Your child will teach you and others life lessons," or "Love your child like any other." Offer a private postpartum room, and provide up-to-date materials and phone numbers of parent support groups.
"These kids have strengths and weaknesses like all kids," advises Angela Lombardo, who coordinates Children's Down Syndrome Program. "They will teach you what they can do."
Lena Skatrud is doing just that. While she is reaching her developmental milestones somewhat later than typical children, early interventions have clearly helped narrow the gap.
In an exam room at Children's, nutritionist Amina Grunko, MS, RD/LDN, notes Lena's good pincer grasp and her progress in retracting her tongue while using a straw. Lena hasn't mastered a cup, so Grunko suggests the Skatruds try a "nosey cup" with a cut-out for the nose to make drinking easier.
The Skatruds also see physical therapist Alice Shea, ScD, who focuses on Lena's walking. Lena isn't yet cruising, so Shea makes suggestions to help align Lena's congenitally out-turned legs, improve her balance and strengthen her calf muscles. At the next stop, speech pathologist Hope Dickinson, MS, CCC, is pleased to learn that Lena's hearing has tested well despite multiple ear infections. Lena now speaks about a dozen words and uses 30 to 40 signs.
"You have to expect something to get something," says Lombardo, whose 9-year-old son has Down syndrome. Today, that can include going to regular schools, living independently or semi-independently and holding paid jobs. Cognitive impairment is usually mild to moderate.
"It's appropriate to approach the family with an enthusiastic philosophy," says pediatrician Allen Crocker, MD, the Down Syndrome Program's director and faculty advisor on Skotko's study. "Families often say their most exciting child is the child with Down syndrome."