Saturday, September 26, 2009

Teen scientist shoots documentary about Fragile X to tell stories of families affected by disability

From the Greenwich Times in Connecticut. You can see her documentary here.

As a budding scientist, Elizabeth LaBossiere (pictured), 17, wants to educate the public about the genetic causes of mental retardation.

As a budding filmmaker, she wants to tell the stories of families that are affected by the disability.

Recently, the Convent of the Sacred Heart school senior did both.

LaBossiere, of Rye, took first place last week in a filmmaking contest that raises money for research of the disorder Fragile X Syndrome, the most common inherited form of mental retardation in males. She won the contest, sponsored by the New York City-based Fragile X Research Foundation, after her video drew the most charitable contributions -- $1,050 -- this fall.

Her 10-minute film, "Fragile X Syndrome: The Stories and the Science," offers both an academic and a personal perspective on the syndrome. It begins with interviews with two families with children afflicted with Fragile X, then features Yale University professors researching the disorder's causes.

"I wanted to share with other people how wonderful and smart and capable and funny and fun loving people with special needs can be," LaBossiere said. "I also wanted to show there is a biological cause behind what's happening."

In people with Fragile X, the mutation of a gene on the X chromosome leads to the chromosome becoming fragile, according to Yale scientist Lynne Regan, who is featured in the film. These problems lead to insufficient levels of a particular protein needed for the brain to grow properly, causing developmental delays, autistic behavior, speech and sensory issues.

LaBossiere said she wanted to show the real-life affect of this medical condition, which afflicts about 100,000 people nation wide, by showing how families have been affected.

One family, the Bates, of Rockland County, N.Y., recalled how they struggled to get a medical explanation for why their son, Jordan, now 13, was developing slowly as a baby. Not until Jordan was 2 did a doctor properly diagnose him as having Fragile X, a syndrome reportedly not well-understood in the medical community until recently.
"At one point, I had this young boy with all these possibilities," Larry Bate recalls on camera. "And now I have this baby I'm being told may not speak, will never be able to take care of himself, may never be able to read and write, communicate. That was devastating."

The Lockes, of Larchmont, N.Y., said they are hopeful their 5-year-old son Joshua will have a bright future, though they are concerned about his ability to live independently. The boy recently pedaled a bicycle for the first time after three years of physical therapy.

"I still hope Joshua will achieve more than anyone has ever anticipated he will do, especially because he's so determined," his mother, Jill, said in the documentary. "I hope there are not that many limits for him. I'm optimistic for his future -- but I'm scared."

LaBossiere said she was inspired to make the documentary after spending summers participating in the Off-Beat Players, a Greenwich-based theater company that features young performers with and without disabilities.

"I worked with (people) of varying abilities, who were blind, Down syndrome," she said. "I was interested in figuring out what's behind all that, the science of it."

Ellyn Stewart, who is Elizabeth's broadcast journalism teacher at Sacred Heart, was impressed by the student's ability to win the trust of the two families, who were willing to share deeply personal parts of their lives on camera.

"I really admire how conscientious she was with these families, and how she made them feel comfortable to open up to her and talk about their lives," Stewart said. "The daily-life element is a part (of the story) we don't always get."