Spreading hope and help for fragile X
Seven-year-old Justin Silver at a fundraising event for fragile X research. Justin's fragile X syndrome causes debilitating anxiety and makes it difficult for him to express his thoughts. His tee shirt reads, "ThanX for helping me," a reference to the syndrome's name.
A home run by the home team is usually a thing of joy, not a source of panic. But that's just what seven-year-old Justin Silver felt two years ago after a blast from a Yankee bat brought a roar from the crowd at Yankee Stadium.
While other fans traded high-fives, Justin and his father Brian, 41, quietly left their seats and headed home to Long Island. The noise and commotion were more than Justin could tolerate.
Justin suffers from fragile X syndrome, a neurodevelopmental condition that causes symptoms ranging from learning disabilities to severe mental retardation, seizures, speech delay and anxiety. It is the most common known cause of inherited mental disability and the leading known genetic cause of autism.
For Justin, fragile X syndrome mainly equates to debilitating anxiety, which leads to inappropriate behavior and magnifies communication difficulties. While he can understand speech at his age level, Justin's ability to express his own thoughts lags two to three years behind other first-graders — making interaction and camaraderie a stressful exercise.
"Most days it's hard for him to use appropriate words to engage people — and he loves to engage people," said his mother, 43-year-old Shari. "He wants to socialize, but he's not sure what to say. He can't say, ‘Hi, can I play with you?'"
However, a visit to the UC Davis M.I.N.D. Institute a year ago convinced Justin's parents that a hopeful future awaits. The institute, whose acronym stands for Medical Investigation of Neurodevelopmental Disorders, is a leading international research center that offers clinical evaluations of children diagnosed with fragile X syndrome. M.I.N.D. Institute staff have likely consulted more such patients than anyone in the world.
- Fragile X Research and Treatment Center
- Clinical assessments
- Illustration: the genetics of fragile X syndrome
- Links about Fragile X syndrome
After learning about the institute on the National Fragile X Foundation website, the Silver family scheduled an evaluation for Justin at UC Davis. The battery of psychological, speech and specialized IQ evaluations showed that he could proceed to higher education and live independently, with the right support for his seizures, therapy and educational plan. Justin falls in the autistic spectrum but is considered high-functioning.
The visit helped replace blind hope with a more substantive understanding about Justin's status — and more concrete optimism that a successful treatment may emerge.
"Before, I'd try to have a positive outlook on it, but it was unfounded," Shari said. "Having been to UC Davis and met everyone, I've walked away with so much information about the research they're doing, and I'm more hopeful — and sincerely comfortable — that things will be OK for him."
A foundation for optimism
Justin Silver with mother Shari, father Brian and sister Hailey.
Shari and Brian actively use strategies learned from M.I.N.D. Institute staff to help Justin cope with his anxiety. While they haven't yet found an effective medication to help with his seizures, there is new hope that pending UC Davis clinical trials could offer a way to treat fragile X syndrome beyond symptoms alone.
The condition is caused by abnormalities in a specific gene on the X chromosome, a strand of DNA that carries hereditary information. Other mutations in the same gene can cause dementia, tremors and balance problems in older adult family members, a disorder known as FXTAS discovered by M.I.N.D. Institute researchers. Shari's father suffered from similar symptoms.
Children with fragile X syndrome don't produce enough of a certain protein known as the fragile X mental retardation 1 (FMR1) protein, causing cognitive and behavioral impairments. However, UC Davis is running clinical trials focused on new medications known as mGluR5 antagonists that could reverse the neurobiological abnormalities caused by the protein's absence, said Professor Randi Hagerman, the M.I.N.D. Institute's medical director.
"There is hope that this new class of medications will not only help with behavior and seizures, but it may also help with improving cognition (processes such as perception, reasoning and memory) as well," Hagerman said.
Helping others find hope
Such work means enough to Shari, a former garment industry executive, and Brian, an Internet exec, that they have raised nearly $60,000 since their visit to help advance UC Davis fragile X research and help provide clinical evaluations for others who may not be able to afford them.
The idea hatched when Brian noticed donor plaques on research equipment during a tour of the M.I.N.D. Institute labs, Shari said. He realized a plaque with Justin's name could create a legacy for their son and help remind researchers of the real people who benefit from their work. It happened that the institute hoped to add a $30,000 piece of equipment for clinical trials.
"We talked about it, and came back to New York and said ‘OK, we can shoot for this ($30,000)' " Shari said. "We figured it would be a tangible thing, and anything that benefits the fragile X community has to benefit Justin and thousands of others who have fragile X."
They set to it, raffling off prizes donated by family and friends as well as space on a commemorative tee shirt for Justin. The money poured in. An article about the family in a local newspaper brought more checks, and empathetic calls from others dealing with fragile X.
"It made me feel I wasn't so strange," Shari says. "It was quite cathartic for my entire family."
Soon the family had raised $58,000 — more than enough for the equipment, which helps researchers analyze DNA sequences to diagnose who carries the fragile X gene change.
Light years ahead
With support from family and friends, Justin Silver's parents Brian and Shari established the Fly With Me Fund to help fragile X patients pursue evaluations at the UC Davis M.I.N.D. Institute.
Shari's sister suggested using the remaining $28,000 to fund a project for children — something that Shari had considered herself after reading about the financial concerns of other families on a fragile X listserv. The "Fly with me Fund" was born, to be used by the M.I.N.D. Institute to help those less fortunate to travel there. Shari hopes to offer others the opportunity to acquire the hope she felt after Justin's evaluation.
"We believe the answer to fragile X is very near in our future, and will help with conditions like autism," said Louise Gane, genetic associate at the M.I.N.D. Institute. "If you compare where we are now to where we were a decade ago, we've traveled light years ahead."
In addition, Brian and Shari have recently established a separate, private, non-profit foundation of the same name, "Fly With Me Fund," to continue raising more funds on an ongoing basis. When the Silvers talk about Justin and promising research, people want to help, Shari said.
"It was refreshing to go someplace with our son and feel normal," Shari said of her UC Davis visit. "Everyone understood him and could explain (fragile X) to us. Because of that, we are much calmer, understand him better and can help our nine-year-old daughter, Hailey understand him better. It helps us all help Justin a lot more on a daily basis."
'Life is getting easier for him'
The report from UC Davis helped to build Justin's individual education plan, for instance. Justin spends only an hour a day with the general student population. The rest of the day, he's in a self-contained special education class and thriving, Shari says.
There are still daily struggles, to be sure. Caring for Justin can be akin to caring for triplets, and it has always been tough to find a babysitter to give his parents respite from his care. He had multiple seizures this winter that set back his progress. The last seizure medicine doctors prescribed actually triggered more seizures, Shari said, while another negatively affected his behavior.
But she is also using new behavioral strategies learned at UC Davis to help deal with Justin's anxiety. Psychology graduate students now use the tips while helping with Justin, giving Shari time to rest. The tips also help extended family members understand fragile X and lessen their apprehension about helping to care for him.
The Silvers were recently able to leave Justin with relatives during a bed-and-breakfast vacation weekend, the first in years. And the entire family spent a week in Jamaica in April, where Shari says Justin did "fantastic."
"Life is getting easier for him," she said.