By Mary Malloy
He gobbles down chicken nuggets and pizza topped with pepperoni. Justin sometimes seems like a typical first grader, but the reality is that he has a genetic condition called Fragile X Syndrome.
Brian and Shari Silver at first thought that their baby had hearing difficulties. As it turned out, he did have developmental delays, and, at nine months old, his parents got him into early intervention. But it would be another few years until they got the correct diagnosis for their only son.
The Silvers live with Justin, now 6, and their daughter, Hailey, 9, on Murdock Road, a child-friendly street in East Rockaway. "The people on our block are some of the most amazing people," said Brian Silver. "There are 10 to 15 kids who know Justin, and they have all the patience in the world with him."
Silver said that Hailey, who is a fourth-grader at Marion Street School, is wonderful with her younger brother. "It hasn't been easy for her," he said. "We watch to make sure she gets enough attention, and we do special things with her. We don't want her to feel that she is making too many sacrifices."
When Justin was 4, he had a grand mal seizure. At the hospital, his parents were told that is was an atypical febrile seizure, which is usually associated with a fever. "They said it was nothing to worry about, even though he was out for 45 minutes," said Silver. "...and that there would be no long-term damage."
The following May, Silver said, Justin started having more spells, this time petit mal seizures. This time, the hospital ran an EEG, and couldn't find the cause.
That is, until the Silvers found Dr. Ingrid Taff, of Great Neck. "She ended up running every test she could to find out why my son was having these seizures - and the test for Fragile X came back positive," said Silver. "Most people do not know that this syndrome even exists, and it can only be detected with a blood test."
Justin did not have the typical look of a child with this syndrome, which can include an elongated face, a huge forehead, a prominent jaw line, and a cupping of the ears - which Justin does have slightly. About 20 per cent of those with Fragile X have seizures, as Justin had.
Justin's autism-like symptoms include an extremely elevated anxiety level, a tendency to flap his hands, and to scream. "I have learned more from having Justin than I would have without him, " said Silver. "I know he doesn't want to be this way, either." Justin, who wakes up every day between 4 and 6 a.m., attended The Lynbrook Kindergarten Center for a half year, and then was outplaced to Cherry Hill School in Carle Place, where his parents say he is doing very well. The school caters to kindergarteners through second graders.
"He gets frustrated by his limitations," said Silver. "But we believe it may help him to drive himself in the future. We hope that we can give him coping mechanisms."
Justin gets therapy through the school, and he also has home services through the Lynbrook School District. Typical Fragile X children do not well in math, but they are better with letters. "He likes music, he likes to dance, but he can't feel anxious about it."
Over the past seven years, a number of breakthrough discoveries have been made in labs dedicated to the study of and search for a cure for Fragile X. Preclinical trials have yielded promising results, opening the door for effective treatments and potentially a full range of autism spectrum disorders. Clinical trials on some of the medications are under way with some success noted and additional trials are scheduled to begin within the year.
During a recent trip with Justin to University of California, Davis M.I.N.D. Institute for evaluations, the Silvers toured the lab, which has a piece of equipment funded by a grant that ran out in August. "The machine processes blood samples in minutes rather than hours with clear, more precise results than anything currently being used," said Silver. In the room, Silver said, is ten machines, and on each machine there is a name dedication plaque.
"If we raised $30,000, we would get a plaque, and it would put Justin on a list for medical trials. After raising and donating the money, the Silvers got an E-mail from the institute, telling them that they could get a machine for $20,000, and asked if they could use the other funds for something else. "We could set up a fund called the Justin Silver Fund, and the money would be used for the people without means to get to the M.I.N.D. Institute, "It's the only place, other than Boston Children's Hospital, for this type of treatment."
The Silvers hosted a fund-raising event in October at Lynbrook South Middle School, called the "Justin Silver Fly with Me Fund", a one mile run, 1/2 mile walk. If successful, the Silvers told people, the machine will have on it a plaque bearing Justin's name as a constant reminder to the research team that there is a little boy counting on their work.
"We raised allmost $60,00. We bought the machine, and the rest will go toward the fund, which is an open legacy. Now anyone can be helped with this. It's amazing to be able to do this as a family. We have reason to hope."
For more information,visit www.fragilex.org. or www.ucdmc.ucdavis.edu/mindinstitute/
To make a donation, send checks made out to the "Justin Silver Fly with Me Fund" to:
The Silver Family
3 Murdock Road
Lynbrook, NY 11563
Or send directly to the UC Davis Mind Institute, for the Justin Silver Fly with Me Fund at:
825 50th Street
Sacramento, CA 95817
What is Fragile X?
Fragile X Syndrome is the leading inherited cause of mental impairment and the most common known genetic cause of autism. A mutation on the X chromosome prevents the production of a protein responsible for normal brain development. Symptoms range from mild learning disabilities to severe mental impairment, and often include aggression, debilitating anxiety, sensory processing dysfunction, hyperactivity, attention deficit and seizures. Fragile X is nearly as common as Muscular Dystrophy and Cystic Fibrosis. It affects all races, religions and populations.
Just one gene
In 1991, scientists discovered the gene (called FMR1 for "Fragile X Mental Retardation - 1") that causes fragile X. In people with Fragile X, a defect in FMR1 (a full mutation) shuts the gene down. Like a defective factory, FMR1 cannot manufacture the protein that it normally makes.
Other individuals are carriers: they have a small defect in FMR1 (called a premutation) but do not show symptoms.
Fragile X is inherited. Carrier men pass the premutation to all their daughters but none of their sons. Each child of a carrier woman has a 50% chance of inheriting the gene defect. The Fragile X premutation can be passed silently down through generations in a family before a child is affected by the syndrome. Worldwide, it is estimated that one in every 260 women are carriers.
Courtesy www.fraxa.org
Comments about this story? Mmalloy@liherald.com or (516) 569-4000 ext. 202.
