Newspaper Editor's Son Tackles His Own Disease in Film

June 14, 2007— -- Strike up a conversation with 25-year-old Quinn Bradlee, and you might find it hard to believe that he has ever had much of anything wrong with him.

But any doubt of the health challenges he has confronted quickly melts away when he describes the surgeries and health problems he has endured throughout most of his life thus far.

"I was epileptic as a little kid," he said. "After that, I started having migraines, and my migraines were so severe that every time I had a migraine I'd always end up in the hospital."

As Bradlee and his mother, Sally, told ABC News, his health issues didn't stop at migraines and seizures. In fact, Bradlee's childhood is a saga of surgery and unexplained illness.

In the time since he received an operation to repair two holes in his heart when he was only 3-months-old, Bradlee has also experienced immune problems, cognitive disorders and four surgeries to repair a cleft palate.

"Quinn was in the hospital for most of his life until he was about 16, in and out of children's hospitals," Sally recalled. "We were in the pediatrician's office two and three times a week because he always had pneumonia and bronchitis and he couldn't swim in any public pool. We couldn't travel for a long time because he was just so susceptible to everything."

And until he was 14, nobody -- not his parents, his doctors, or Bradlee himself -- believed that all of these problems were somehow connected.

"He was being treated in speech therapy, and he had already had two throat surgeries when the speech therapist, who happened to be talking to a friend of hers at the NIH, said, 'We've got this kid here, and every time we turn around there's some weird, different thing going on,'" Sally said. "This woman said, 'You know, this sounds really familiar to me.'"

The chance conversation led the Bradlees to Dr. Robert J. Shprintzen, then at the Center for Craniofacial Disorders at the Montefiore Medical Center in Bronx, N.Y. but currently at SUNY Upstate Medical University in Syracuse, who said a mysterious genetic syndrome was to blame.

Now, Quinn -- the only son of Sally and Washington Post veteran editor Ben Bradlee -- has produced a documentary that he hopes will help others learn more about the condition that led to all of his health problems.

"When I went up to Syracuse to do this documentary -- that was only a few weeks ago or a few months ago," Bradlee said, "that was when I was really learning everything, what the hell was wrong with me."

Many Symptoms, Few Clues

While Bradlee only learned at age 14 that he suffered from velo-cardio-facial syndrome, or VCFS, the syndrome was first described by Shprintzen in 1978.

He said although the exact causes for the syndrome are not entirely known, its symptoms spring from about 40 genes that are missing from the DNA of its sufferers.

"That's a lot of genes," Shprintzen said, adding that each of the genes can be thought of as an ingredient in a recipe for a healthy human being.

"It's sort of like if you had a recipe for marinara sauce and you went to the cupboard to see if you have enough tomatoes, olive oil, oregano and so on," he explained. "If some of these ingredients are missing it's not that big a problem; you could do with less oregano."

"But if you're missing something important, it's a problem. If you don't have tomatoes, you don't have a recipe."

Also, since so many genes are missing, Shprintzen said the syndrome can be the culprit in more than 180 different abnormalities. And no two sufferers may have the exact same combination of problems.

"Because 40 genes are missing, the combinations of abnormalities in people with this syndrome are mind-boggling," he said.

"Somebody may have 20 or 30 of these problems, and somebody else with the same syndrome may have 20 or 30 different problems."

These problems run the gamut from cleft palate -- an opening in the roof of the mouth -- to heart defects, minor facial abnormalities, subtle learning problems and speech and feeding problems.

Bradlee's case is relatively mild; for all intents and purposes, he looks and acts completely normal. But with such a wide range of characteristics and severity, the syndrome is tremendously difficult for doctors to diagnose effectively.

So when Shprintzen was finally able to provide the Bradlees with an answer, Sally said she was relieved.

"Nobody wants to learn that you have some syndrome, but we all just relaxed a little bit," she said. "So the next time something happened that was weird, we'd call up Dr. Shprintzen and he'd say, 'Oh yeah, that's part of the syndrome.'"

Not everyone with VCFS is as lucky as Quinn. Further complicating the diagnosis is the fact that VCFS may also be known as Shprintzen syndrome, DiGeorge syndrome, craniofacial syndrome or conotruncal anomaly unusual face syndrome. Many physicians may not even know exactly what they are dealing with, even when treating those who have already been diagnosed.

"Even now when we go to hospitals when he has these symptoms and migraines and we'll say he has VCFS and they'll have no idea what we're talking about," Sally said.

Even so, VCFS follows Down syndrome as the second most common congenital genetic syndrome known to doctors today. It is estimated that over 130,000 individuals in the United States have this syndrome.

Building Awareness

But the tide could be turning on VCFS awareness. Karen Golding-Kushner, executive director of the Velo-Cardio-Facial Syndrome Educational Foundation Inc., said Bradlee's documentary and other educational films like it could help raise awareness of the syndrome.

"I think that [awareness] will increase tremendously," she said. "Already we are getting more e-mails and phone calls from parents. People are becoming aware of this syndrome."

Such awareness could prove to be even more important for the children of those affected, as parents with VCFS -- no matter how mild -- in theory have a 50/50 chance of passing the syndrome on to their children.

"There are people who have never had any problems of which they are aware, but who tested positive when they brought in an affected child," Golding-Kushner said. "In the future we will see fewer people coming for treatment as older children or adults who were never diagnosed."

Such a legacy would be a fitting tribute to Bradlee's film -- one of what might be many more to come.

"I would love to be a documentarian for the next five to 10 years, and then I would eventually like to become a feature director," Bradlee said. "My dad said that I'm the most visual learner he's ever met in his entire life."