Stacey Kopco of Martinsburg thought she was treating her son, Zachary, when she took him to see one of his favorite childhood characters, "Sesame Street'' star Elmo, at a stage performance.
But that's when she, like other mothers of autistic children, learned that her son may not always have the reaction she'd expect. Zachary was overwhelmed by the noise and bright lights in the auditorium and he quickly became upset, Kopco said.
"It was totally the opposite of what I expected,'' she said. "I felt terrible because I thought he'd really like seeing Elmo. But all of the sounds and everything were just too much stimulation for him.''
Mirror photo by Gary M. Baranec
All three children in the Kopco family (back, from left, Michael Kopco, 9-year-old Zachary, Stacey Kopco and 8-year-old Alec; in the foreground is 6-year-old Ashley) have Fragile X Syndrome.
Zachary, now 9, had been diagnosed with a form of autism caused by a genetic syndrome known as Fragile X. Kopco had no idea she was a Fragile X carrier when Zachary was born and had never even heard of the disease, she said. Like most new parents, she and her husband, Michael, carefully watched their firstborn for the milestones every parent looks for that first year to make sure their child is progressing normally, Stacey Kopco said.
When Zachary wasn't walking or talking at 12 months, people said not to worry, every child is different, she said. Eventually speech and occupational therapists were brought in to work with Zachary, but no one thought he had serious problems; they just thought he was delayed in his development and needed a little help.
Soon she became pregnant with her second son, Alec, who also was slow to reach his milestones during his first year, but again, people told her not to worry. He seemed to be a happy baby and always interacted well with people, she said.
What is Fragile X?
Fragile X Syndrome is the most common known cause of autism, according to the FRAXA Research Foundation. It affects one in 4,000 males and one in 6,000 females of all races and ethnic groups, according to the Centers for Disease Control. About one in 259 women carry Fragile X and could pass it to their children. About one in 800 men carry the disease and their daughters will also be carriers, according to the CDC.
Males who have the syndrome usually have some degree of intellectual disability that can range from mild to severe. Females can have normal intelligence or some degree of intellectual disability, according to FRAXA. Anxiety and unstable mood, plus hypersensitivity to bright lights and noises are also symptomatic of the syndrome.
Physical symptoms are usually hard to recognize in babies and young children, but sometimes become apparent with age. They include long face, large ears and flat feet, low muscle tone and hyperextensible joints, especially fingers, according to FRAXA.
"Everyone was telling me, 'He's too social to have autism,''' she said.
But Alec, who is now 8, never crawled, never held his head up and was very limp with no muscle tone. Once when the speech therapist was working with Zachary, she mentioned that he reminded her of another boy she was working with in Altoona who had Fragile X syndrome. That was the first time Stacey Kopco heard about the genetic disease.
"Of course, as a mom all I heard was the part about there being no cure,'' she said.
Zachary and Alec tested positive for the disease. The Kopcos also have a daughter, Ashley, who has Fragile X, too, although, not as severe a case as her brothers. That is typical, because the syndrome does not seem to strike girls as hard as it does boys. The Kopco children all attend public school, but Zachary and Alec do go to some special classes during the day. Both boys are on medications for things such as seizures in Zachary's case, but Ashley, who is now 6, is not.
They are very physically active like most kids, and even though the syndrome can produce unusual physical side effects, such as long faces or large ears, so far the children don't show these symptoms. Sometimes the physical side effects show up later in life, information from FRAXA Research Foundaion said.
The disease does cause other behavioral symptoms, especially with the boys, such as anxiety and inattention. That makes it difficult to take the boys on outings, especially to public places. Stacey Kopco said she's gotten her share of stares from people who think she's not the best parent.
"Sometimes I feel like I have 'Bad Mom' written on my forehead because when my children do something, it's not their fault, but people don't know that because they can't see that,'' she said. "If children have Down syndrome, then it's obvious that there's something wrong with them, but with my children, it's not so obvious, so they just think they're being bad.''
Stacey Kopco and her husband started a fundraiser in Martinsburg three years ago to benefit FRAXA. The ''Cruise-In'' displays classic cars and brings together area businesses who donate food and other goods to help fight the disease. After much negotiation, Stacey Kopco got PennDOT to close the state route in front of the family's Fox's Pizza business for the event.
"Anything we can do to help our kids, we wanted to do,'' she said.
Like the Kopcos, FRAXA co-founder Katie Clapp said she'd never heard of Fragile X before her son was first diagnosed. Since then, she has educated herself and others about the syndrome, which she said is gaining attention as more people are becoming aware of autism.
The severity differs with each person who has the syndrome, she said. Males are more affected than females and her son, who is now 23, is "very impaired,'' and lives at home. Her daughter, who is 21, shows no signs at all of having the syndrome, although she has tested positive for the disease, Clapp said.
Although there is still no cure, there are hopeful signs. In two years, new drugs are expected to be available that will help people with Fragile X cope with the disease, Clapp said. The drugs are currently in clinical trials, she said.