Couple starts organization to educate and lobby for Dandy-Walker Syndrome research

‘‘We were paralyzed,” Eric Cole said. ‘‘This is not what you read in the ‘What to Expect When You're Expecting' book.”

They turned to doctors, research groups and Internet sites for information about Dandy-Walker but found nothing.

After their son, Ryan, was born, the Coles struggled to find help and advice.

In February, they started a nonprofit group called the Dandy-Walker Alliance Inc. so other couples would not have to go through what they did.

‘‘I say we’re accidental advocates,” Eric Cole said. ‘‘You hear about something like this and think, that’s really sad. You don’t really think about it until it’s your kid.”

The nonprofit, now nearing its one-year anniversary, is committed to raising awareness and education and supporting research on the rare birth defect named after the doctors who first researched it.

Dandy-Walker Syndrome is a congenital brain malformation in the cerebellum, an area at the back of the brain that controls movement. It is frequently associated with hydrocephalus, a condition that limits the flow of fluid around the brain and to the spinal cord, which is necessary for motor skills and the nervous system.

The syndrome can appear dramatically or develop unnoticed, according to current research.

Symptoms, which often occur in early infancy, include slow motor development and enlargement of the skull because of the building fluid. In older children, the swelling can lead to vomiting, convulsions and lack of muscle coordination.

According to the alliance information, Dandy-Walker affects as many as one in 5,000 infants, 70 percent of whom will develop hydrocephalus.

‘‘There were Web sites for families to post their stories, but the need we wanted to fill was to get the peer-reviewed medical information out there,” Eric Cole said.

The Coles had access to the National Institutes of Health archives to look up information on Dandy-Walker because Eric Cole worked for the National Institutes of Health when Ryan was born, but not many families had easy access to those articles.

‘‘What about the families in the middle of nowhere that aren’t as blessed as we are?” he asked. ‘‘People with no insurance. What do they do?”

Andrea Cole said doctors did not have a positive outlook on Ryan’s quality of life when he was diagnosed, mostly because there is little data on Dandy-Walker syndrome.

‘‘We were told it could be ... anywhere from being a vegetable to a normal, cognitive child,” she said.

Doctors recommended terminating the pregnancy, but Ryan was their son, they decided. He would be born three months premature and spend 156 days at George Washington University Hospital in Washington, D.C.

‘‘Those were the lowest points. There were times I didn’t think he was coming home,” Andrea Cole said.

The family spent time together every night, and eventually Ryan stabilized and was taken off life support machines.

‘‘When he came home out of the [Neonatal Intensive Care Unit],” that was the highest point. When he came home for good,” Andrea Cole said.

The family returned to the hospital for two brain surgeries, one of which inserted a shunt that helps drain excess fluid from Ryan’s brain and treat the hydrocephalus.

Ryan, now 2 years old, runs around the family’s apartment in Kensington at night, plays with his toys and jumps on the couch for story time.

‘‘He really is a happy, average kid,” Andrea Cole said.

His cognitive development is slower compared to most children, but Ryan uses some sign language to communicate with his family and can say a few words. He understands a lot that is going on around him, they said, but he is slow to express things.

‘‘There’s nothing that he’s shown us he can’t do with time,” his mother said.

Once life calmed down after Ryan’s birth, the Coles met with county and state lawmakers to discuss programs that could provide a full-time nurse to watch Ryan during the day, funds for medicine and other medical costs. While with the NIH, Eric Cole found multiple articles in their archives about Dandy-Walker syndrome. He created the Dandy-Walker Alliance Web site and linked the NIH research in February.

‘‘The demand was overwhelming,” he said. ‘‘We called it an alliance because we didn’t want people to feel like members, or nonmembers. Just [wanted to] get the information out there.”

A Bethesda law firm handled the paperwork of creating the 501c3 nonprofit status and creating the alliance board of directors pro bono.

The Coles said U.S. Rep. Christopher Van Hollen (D-Dist. 8) of Kensington and state lawmakers helped them find free assistance programs to alleviate what would have been thousands of dollars in medical treatments and day-to-day care.

Van Hollen said he co-sponsored legislation that would direct the NIH to focus on finding the cause and treatment of Dandy-Walker syndrome and hydrocephalus, as well as raise awareness and educate the public on the birth defect.

“[The Coles] are a real inspiration to the other people in the community who have really serious issues ... and have taken it upon themselves to be a voice for other children and families,“ he said. “We need to raise awareness, even in the medical research community.

Eric Cole testified before Congress to support the bill introduced in May, which Van Hollen said he hopes will be approved next year.

The Coles said the Congressional attention gave the group more authenticity than other expressive Web logs and sites on the condition already in existence.

‘‘Literally not a day goes by that we don't get e-mails and calls from people all over the world looking for information,” he said.

‘‘Honestly, we’re just so blessed,” Andrea Cole said.

Learn more

Visit the Dandy-Walker Alliance online at www.dandy-walker.org.