(SACRAMENTO, Calif.) — Randi Hagerman, a UC Davis M.I.N.D. Institute physician and co-founder of the National Fragile X Foundation, will help launch California’s first Fragile X Awareness Day rally and celebration on Tues., Apr. 18, at 11 a.m. on the south steps of the State Capitol in Sacramento.

The event — established through legislation authored by California State Senator Dennis Hollingsworth (R-Murietta) — brings together families, researchers, policymakers, educators, health professionals and service providers to increase awareness of fragile X syndrome and related conditions, which cause neurological problems in both children and adults. In addition to Hagerman, other speakers include Senator Hollingsworth; Robert Miller, executive director of the National Fragile X Foundation based in Walnut Creek, Calif.; and parents who represent fragile X support groups throughout California.

“Fragile X Awareness Day provides a great opportunity to educate the public and medical community about the diagnosis and treatment of conditions caused by mutations in the fragile X gene,” said Hagerman, medical director of the UC Davis M.I.N.D. Institute and director of the institute’s Fragile X Research and Treatment Center. “Fragile X gene mutations cause mental retardation and autism in children, and in adults it can lead to tremor, balance and memory problems, or menopause before age 40. Everyone needs to know that children with mental retardation or autism of an unknown cause should be tested for the fragile X mutation. Early diagnosis improves treatment options for children and enables physicians to diagnose other family members who may be at risk for developmental delays or neurological problems later in life.”

Mutations in the fragile X gene may impact over one million men, women and children in the United States. One-third of men over age 50 who are carriers of the fragile X mutation may develop a condition known as fragile X-associated tremor syndrome. FXTAS (pronounced fax-tass) is a progressive neurodegenerative disorder characterized by balance, tremor and memory problems discovered in 2001 by Hagerman and her husband, Paul, a UC Davis physician and scientist who leads molecular investigations in both fragile X syndrome and FXTAS. In women, fragile X mutations can produce premature ovarian failure in about one in five female carriers of the gene mutation. And in children, fragile X is the most commonly known gene mutation associated with autism.

For the 100 families with fragile X who visit the UC Davis Fragile X Research and Treatment Center each year, finding Hagerman and the center means finding peace of mind.

“At our first doctor’s appointment I felt that the doctors understood Max, his disorder and what he had to deal with,” said Andrew Wheeler, a father whose son was diagnosed with fragile X syndrome when he was 13 months old. “Randi wasn’t overly invasive with her exam, since she understands patients with fragile X syndrome. She was the first physician to be clear with us about what was happening with our son.”

Andrew and his wife, Cari, knew early on that something was wrong with their son.

“Max wasn’t rolling over. He wasn’t sitting up. He hadn’t achieved any of the typical developmental milestones,” Wheeler explained. The family’s pediatrician at first prescribed patience but eventually sent the family to an occupational therapist to help him catch up developmentally. The occupational therapist noticed that Max’s head looked like some of her patients with a genetic disorder called fragile X syndrome.

“She suggested we get genetic testing. That’s how we found out he had fragile X,” he said.

Despite being the number one cause of inherited mental impairment, fragile X syndrome remains largely unknown to the general public and poorly understood by physicians, Hagerman says. For families like the Wheelers, the lack of information and resources make getting the proper treatment an ordeal.

Frustrated with the lack of local support, Andrew flew to the National Fragile X Foundation’s International Conference in Chicago soon after Max was diagnosed. At the conference, Wheeler met Hagerman, and he was thrilled to find a fragile X specialist and researcher who was just a three-hour drive north of the family’s home in Madera, Calif. Max has been a patient of Hagerman’s ever since.

According to Hagerman, the multidisciplinary approach of the center is the key to successfully treating patients like Max. “We have everything from pediatricians and genetic counselors to neurobiologists and molecular geneticists,” she explained. “We are researching fragile X from every angle and offering patients a complete range of medical and mental health care services.”

The syndrome, for which there is no cure, is caused by a change or mutation in a gene on the X chromosome. Without a normal copy of the fragile X gene, a vital protein is not made and the result is the onset of characteristic mental disorders, which can range from learning disabilities to severe cognitive or intellectual disabilities. Treatment ranges from behavioral therapy to medication. Some individuals carry what is known as a premutation, which means the mutation they have can transform into the full mutation that causes fragile X syndrome in future generations.

“Fragile X syndrome is inherited and the diagnosis impacts an entire family,” explained Hagerman. “By offering genetic testing to the whole family, we give patients and their extended families the information they need to get proper treatment and can help them identify other family members at risk to have a child with fragile X syndrome.”

The center’s researchers have several major studies under way, including some funded by the National Fragile X Foundation, to better understand fragile X. These include assessing the effect of the fragile X premutation on carriers; pinpointing areas of the brain responsible for the anxiety and avoidance behavior typical of those with fragile X syndrome; understanding the link between autism, learning disabilities and fragile X syndrome; and researching treatment protocols that relieve symptoms of fragile X syndrome and FXTAS. They also are working with the Centers for Disease Control and Prevention on cascade testing and genetic counseling information for practicing neurologists, pediatricians, psychiatrists, obstetricians and gynecologists to improve awareness, identification and treatment options for children and adults affected by the gene mutation.

In Max Wheeler’s case, fragile X syndrome has manifested as exaggerated physiological responses. His ear infections don’t respond to oral antibiotics and, eventually, he is hospitalized and given antibiotics intravenously until he is stabilized. Unlike other children, his fevers routinely spike above 103 degrees Fahrenheit — his temperature has even hit a frightening 107.5 degrees, his father said. These fevers can even be brought on by normal events, like family vacations, that disrupt his routine.

Thanks to testing done at the M.I.N.D. Institute, Max’s grandfather was diagnosed with FXTAS.

“My dad used to be the kind of person who loved to be in the middle of everything,” Cari Wheeler said. “But, now he doesn’t want to be involved. He just sits on the porch by himself. At least now we know what’s going on. It’s all part of the same syndrome, and it’s a lot more common than people think.”

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UC Davis M.I.N.D. Institute

RALLY AT STATE CAPITOL FOCUSES ON FRAGILE X SYNDROME AND RELATED CONDITIONS