Amy DeBernardis, 28, lives downstairs with her golden lab, Beauty. She has Fragile X Syndrome, the most common form of inherited mental retardation. Symptoms vary by person, but they occur because one gene can't produce enough of a protein that's needed by cells, especially brain cells.
Marie DeBernardis, 22, lives upstairs. She doesn't have Fragile X, but spreads the word that Fragile X carriers can be detected with a simple blood test. A senior at Montana State University, Marie spent the last two summers at Stanford University, helping researchers study Fragile X. Results of one study will be published in the Journal of Autism and Development Disorders. Results of the second have been submitted to the American Journal on Mental Retardation.
"Hey, Twinkle toes. That's a long story in itself," Amy said as she answered the door and called to Marie to come downstairs. "That's a long story in itself" is a frequent phrase Amy uses in her conversations.
Marie and Amy are the daughters of Dick and Mary DeBernardis of Gallatin Gateway. Mary is a carrier of Fragile X, but didn't know it until after an encounter in Washington, D.C. She was riding the metro and happened to talk to a man who referred her to a geneticist at the Bethesda Naval Medical Center who later referred her to the Kennedy Krieger Institute. There, after many years of seeing specialists, the family learned that 12-year-old Amy had Fragile X Syndrome.
"Fragile X is not rare. Both boys and girls get it, although boys have it more severely," said Mary, founder of the Fragile X Resource Group of Montana.
A red flag in Amy's case would have been her crossed eyes at birth, Mary said. Amy had speech and language delays. She had multiple ear infections. She enjoyed rocking back and forth, sometimes banging her head against the wall. She flapped her hands and walked on her toes. Amy today is great at visual learning and computers, but not so good with math and reasoning skills. She has trouble looking people in the eyes. She is impulsive and has Attention Deficit Disorder.
Her greatest asset, according to her family, is her gift for compassion, honesty, love and humor.
"We all have gifts. We all have something to benefit the world," Mary commented. "They are not a burden on society. They are a blessing."
As Amy sat in her living room, she described a life busy with work and hobbies. The Bozeman High School graduate cleans exercise equipment at The Ridge, hands out food samples at Costco and cares for a 30-year-old man with special needs. She plays piano, takes Tae Kwon-do and can drive a car. She loves football. She regularly writes letters to the editor of the Bozeman Daily Chronicle. She competes in Special Olympics and speaks for that organization as a Global Messenger.
"Focus on the positive, and throw out the negative," Amy said in summary of her talks.
Marie sat nearby, occasionally reminding her sister to concentrate on the interview. Not even a carrier of Fragile X, Marie is majoring in biomedical sciences and studio art. After spending last spring in Italy through the MSU College of Art's Italy Program, she experimented at Stanford with teaching basic math and geography skills to children with Fragile X. In 2003, she watched videotapes of children with Fragile X and coded their behaviors as they tried to escape social interaction.
"It was a great experience," Marie said.
"Both are very good tight studies with good results," added Scott Hall, senior research scientist in the Behavioral Neurogenetics Research Center at Stanford.
Stanford researchers normally don't involve undergraduates from other schools, Hall said, but both of Marie's projects were funded by the National Fragile X Foundation. Marie also had previous ties to Dr. Allan Reiss, the Stanford researcher heading her projects. Not only did he diagnose Amy, but he used Marie as a subject in one of his earlier studies.
For more information on Fragile X, see www.fragilex.org. or visit the Bozeman Public Library where Mary DeBernardis has placed videos and books on Fragile X. Doctors and genetic counselors from Shodair Children's Hospital in Helena hold clinics around Montana and can diagnose Fragile X.
Evelyn Boswell, (406) 994-5135 or firstname.lastname@example.org