Newspaper Editor's Son Tackles His Own Disease in Film

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."

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