For a Kensington couple, news of their son's devastating diagnosis was a call to action.
Nineteen weeks into her pregnancy, Andrea Cole and her husband, Eric, were excited about the sonogram that would reveal the sex of their first child. They already had names picked out: Ryan if it was a boy, Victoria—Tori for short—if it was a girl. Their parents, his in Alabama and hers in Silver Spring, couldn’t wait to hear the news.
But the routine sonogram took a devastating turn. As Andrea lay in the darkened exam room, Eric by her side, the radiologist delivered the blow.
“It looks like part of the back of his brain is missing,” the doctor said. He suspected their baby had a birth defect called Dandy-Walker syndrome.
“It really felt like a Mack truck hit me,” Andrea recalls.
Nine years later, the Coles sit at the dining table in their airy Kensington home, the memory of the radiologist’s words as vivid on this spring afternoon as if they’d been uttered just moments earlier.
Andrea and Eric went home that day, cried, and then called their parents, who were eagerly awaiting the news of their grandchild’s sex. Eric’s parents jumped into their car and drove more than 800 miles to Kensington to offer emotional support.
The next day, additional sonograms and MRIs confirmed the diagnosis.
The Coles had never heard of Dandy-Walker, and in the weeks that followed they searched for an organization that could provide information about it and connect them with other families raising children with the syndrome. When they didn’t find one, they put their respective areas of expertise to work: Eric is an information technology specialist at the National Institutes of Health in Bethesda; Andrea is an analyst at the Department of Defense. They mined PubMed, the online database of medical journals managed by the U.S. National Library of Medicine, part of NIH, for articles about Dandy-Walker.
A year after their son was diagnosed in utero, the Coles created a website, Dandy-Walker.org, and posted abstracts of studies about Dandy-Walker from peer-reviewed medical journals, along with additional information and resources. They wanted other parents who Googled “Dandy-Walker” to find more than they had.
The Coles continued to add resources to the website, including information about NIH-funded research and a blog to enable families to connect with each other. “We got hit with a tidal wave of requests from around the world,” Eric says.
In September 2007, the Coles incorporated the Dandy-Walker Alliance as a nonprofit. It has no members–a deliberate decision by the Coles. In their search for information, they had encountered many requests for membership or subscription fees, and they didn’t want to place any obstacles in the path of desperate families.
Dandy-Walker syndrome is named for the two Johns Hopkins neurosurgeons who independently described it in the first half of the 20th century. It involves malformations of the cerebellum, an area at the back of the brain that controls movement, and the fluid-filled spaces around it.
Key characteristics include the enlargement of a small channel through which fluid flows between the upper and lower areas of the brain and spinal cord, the partial or complete absence of the part of the brain that connects the two halves of the cerebellum, and the formation of a cyst inside the skull, near the base.
Most children with Dandy-Walker syndrome develop hydrocephalus, a condition in which cerebral spinal fluid builds up in the brain, requiring the placement of a special tube, or shunt, to drain it and reduce pressure and swelling. As the alliance notes on its website, the syndrome is frequently associated with other central nervous system disorders, as well as malformations of the heart, face, limbs, fingers and toes.
According to the International Society for Pediatric Neurosurgery, Dandy-Walker syndrome occurs in about one in 30,000 live births, but Eric says that statistic is misleading. If you go beyond live births and count terminations and miscarriages of fetuses with the brain defect, Dandy-Walker syndrome is more than 10 times more common, occurring in one in 2,500 pregnancies, he says. “From an advocacy perspective, it doesn’t always work to your benefit to make it sound like the rarest thing in the world,” Eric says.
Dr. John Myseros, a neurosurgeon at Children’s National Medical Center in Washington, D.C., and a member of the Dandy-Walker Alliance advisory board, says he sees three to 10 children with the condition each year. Some, like Ryan Cole, are diagnosed in the womb. Some are not diagnosed until after birth, when slow motor development and progressive enlargement of the skull in infancy, or symptoms of increased pressure inside the skull during childhood, provide clues.
Despite their brain malformation, about half of the children born with Dandy-Walker syndrome have normal intelligence, although they might have movement or balance problems, says advisory board member Dr. William Dobyns, a medical geneticist and pediatric neurologist at the University of Washington in Seattle. If the symptoms are subtle and the individual never undergoes any type of brain scan, the malformation could go undetected, Dobyns says. He notes that the syndrome has been discovered in autopsies of one or two people who died in their 80s.
From the start, though, says 41-year-old Eric, health care professionals painted a grim prognosis. A genetics counselor predicted their son was “likely to be a vegetable,” and raised the option of terminating the pregnancy.
The Coles wanted to have the baby, but “we really didn’t know exactly what we were going to be dealing with,” says Andrea, who’s now 40. Would he ever be able to talk? Would he ever be able to walk?
Myseros says it’s virtually impossible to predict what a baby born with Dandy-Walker syndrome might accomplish.
“Parents want to know if their kid is going to college, if they’re going to play sports. I don’t know the answers to any of those questions,” he says. “Time will tell.”
At the Center for Integrative Brain Research at Seattle Children’s Hospital, Dobyns and colleague Dr. Kathleen Millen have identified four Dandy-Walker genes and have leads on three others that play a role in the syndrome.
When he needs more patients for his Dandy-Walker research, Dobyns says “the most effective way to get them is to ask Eric.”
Dobyns has been studying Dandy-Walker for nearly 15 years and is one of the world’s leading experts, but even he doesn’t receive as many referrals as he would like. One reason: Many of the patients referred to him have a defect in the back part of their brain, but it’s not exactly the same as Dandy-Walker syndrome.
“I end up changing the diagnosis probably half the time,” Dobyns says. “Dandy-Walker is the best-known birth defect of the cerebellum, but not the only one. The medical community has this amazing confusion about what true Dandy-Walker is.”
Part of the problem is semantics, in particular the often-used term “Dandy-Walker variant,” he says. Only about 5 percent to 10 percent of children diagnosed with Dandy-Walker variant have true Dandy-Walker syndrome, Dobyns says.
Labeling other defects of the cerebellum as Dandy-Walker leads doctors to dispense erroneous information to patients’ families, he says. For example, the chance that the parents of a child with true Dandy-Walker syndrome will have another child with the birth defect is “lower than low,” although not unheard of, he says. But other defects of the cerebellum have a much higher chance of running in families.
And while 50 percent to 80 percent of children with true Dandy-Walker have hydrocephalus, Dobyns says, he has seen only one case of hydrocephalus in a child diagnosed with Dandy-Walker variant.
In late January, the Dandy-Walker Alliance launched an online patient registry to enable patients, family members and researchers to gather and share information and health histories. So far, more than 100 patients have been entered into the registry, Eric says.
“This registry will help us better understand the major health issues among individuals with Dandy-Walker, improve the natural history for the diagnosis and help us recruit for future pre-clinical research studies and therapeutic clinical trials,” the registry’s home page notes.
In addition to connecting Dobyns with children who have the syndrome, the Coles have raised money through efforts such as the annual Dandy Walker Awareness Day at Nationals Park in Washington, D.C., to help pay for his research, which requires expensive technology to track down relevant genes. He also has a grant from the National Institutes of Health to study Dandy-Walker.