California state Sen. Hollingsworth hosts observance of 5th Annual Fragile X Awareness Day at state Capitol
Event featured remarks by UC Davis MIND Institute Medical Director Randi Hagerman
Posted April 28, 2010
California state Senate Republican Leader Dennis Hollingsworth (R-Murrieta) hosted an observance of California Fragile X Awareness Day in an event on April 20, 2010, in the Governor's Press Room on the first floor of the state Capitol in Sacramento.
Hollingsworth sponsored legislation establishing Fragile X Awareness Day in California in 2006 to draw attention to the need for greater funding for fragile X syndrome research.
“In recent years, there has been a great deal of attention focused on autism, but not much is known about fragile X syndrome,” Hollingsworth said. “We hope that by holding this annual gathering and spreading the word we can increase awareness about this condition and show our support for the fragile X community and the educators, researchers, doctors, and speech and physical therapists who spend countless hours of their time and so much energy working with these unique individuals to help them lead meaningful, emotionally rewarding lives,” he said
Randi Hagerman, medical director of the UC Davis MIND Institute and an internationally recognized leader in the search for treatments and cures for fragile X-related disorders, and Robert Miller, executive director of the National Fragile X Foundation, joined Hollingsworth to discuss the need for increased awareness, funding and treatment for fragile-X related conditions. Families affected by fragile X were also present.
A genetic condition, fragile X syndrome is the leading inherited cause of intellectual disability, affecting approximately 1 in 4,000 males and as many as 1 in 6,000 females. Approximately one-third of all children with fragile X syndrome also have autism.
About the Fragile X Research and Treatment Center
Established in 2001 at the UC Davis MIND Institute, the Fragile X Research and Treatment Center utilizes an interdisciplinary team approach to evaluating patients and conducting research on fragile X syndrome and related conditions. The close interaction of the center's specialists in pediatrics, molecular genetics, psychiatry, psychology, neurology, genetic counseling, speech and language pathology, occupational therapy, neurobiology, pathology and social work biologists has led to important advances in understanding and treating fragile X. For more information, visit the UC Davis MIND Institute website.
Children with fragile X syndrome also may experience learning disabilities, speech and language delays and behavioral problems such as attention-deficit/hyperactivity disorder (ADHD). Males with fragile X syndrome usually have some degree of intellectual disability that can range from mild to severe; symptoms in females are generally milder. The syndrome is associated with the expansion of a single trinucleotide gene sequence (CGG) on the X chromosome, which results in a failure to express the FMR1 protein that is required for normal neural development.
“We are looking at the benefits and side effects of several experimental medications with significant promise to help people with fragile X syndrome and, potentially, people with autism spectrum disorders and other neurodevelopmental disorders as well.”
— Randi Hagerman
Hagerman said that this is a time of unprecedented advances in research into fragile X therapies.
“This is a very exciting period in fragile X research. We are conducting clinical trials of potential new targeted treatments, or medications, for many of the features of fragile X, including the social and cognitive deficits,” Hagerman said. “We are looking at the benefits and side effects of several experimental medications with significant promise to help people with fragile X syndrome and, potentially, people with autism spectrum disorders and other neurodevelopmental disorders as well.”
Kelly Dokimos, of Rough and Ready, Calif., has two sons with fragile X syndrome, Justin and Jacob, who are now young adults. Awareness of fragile X syndrome was limited when her children were younger, Dokimos said. Even obtaining a diagnosis then was difficult, and there were few supports for the families of children with fragile X, even after receiving the diagnosis.
“It was kind of devastating at first,” Dokimos said. “Your first reaction is denial and then you kind of move on to acceptance and begin to ask yourself, ‘What can I do to make the best of this situation, and how can I help them to lead productive and normal lives?” Dokimos said.
Advances in fragile X research are heartening, Dokimos said, as are the resources available to support families with individuals affected by fragile X today.
“There are so many more resources out there than there were 25 years ago,” she said.
The state of California is on the cutting edge of research and treatments for both fragile X and autism, said Robert Miller, executive director of the National Fragile X Foundation, a broad-based organization that helps families affected by fragile X syndrome and other fragile X-associated disorders.
“California is already home to three fragile X treatment and research facilities, Miller Children's Hospital in Long Beach, Stanford University School of Medicine in Palo Alto and the MIND Institute,” Miller said.
The foundation provides information and referrals to family members and the professionals who serve them, fosters awareness within the medical, therapeutic and educational communities and general public, develops and disseminates educational materials, holds and co-sponsors conferences, funds basic science, clinical and translational research, and works to encourage young researchers to devote their careers to fragile X inquiries.
Photos by California Senate Photography