Chicago family comes to grips with genetic disorder
Fragile X Syndrome runs rampant in local family
Wednesday, April 27, 2011
Matt Zolecki fluttered like a social butterfly, flapping his wings with excitement amid a flurry of friends and family.
The 10-year-old Plainfield boy couldn't sit still inside the Pioneer Lanes bowling alley. He karate-chopped the air, waved to relatives and gave high fives to friends while sporting his "Fragile What?" T-shirt.
Fragile what? Fragile X.
Matt has Fragile X Syndrome, a genetic disorder that causes cognitive or intellectual disabilities, developmental delays, severe anxiety and behavioral problems. Its symptoms mimic characteristics of autism and it's also the most common identifiable cause of autistic-like behaviors.
"But as you can see, unlike many kids with autism, Matt is very social," says his mother, Missy Zolecki, as she set up her first fundraising event earlier this year. "His happiest moments are when he spends time with the people he loves."
Fragile X is passed on from generation to generation, although some family members have no apparent signs of the condition, and many others never even know it's in their genetic code. Only in the last generation has more information and better testing come forward.
Fragile X also is considered a "family of genetic conditions," related by various alterations within the same FMR1 gene. There is no cure but, as with autism, medication and therapies can help manage its symptoms.
Experts believe Fragile X, and possibly autism, too, may be caused by a "faulty switch" in the brain that produces an unhealthy abundance of proteins, altering the normal passage of pathway signals.
Matt, who's on the higher end of the Fragile X spectrum, is among an extended family that has at least six members diagnosed with full-fledged Fragile X and 11 others who are known carriers.
"I feel like I opened a can of worms when I first discovered this about my family," says Matt's aunt, Michelle Mahoney, 51, of St. Charles, Mo. "It's been like a family secret for years."
This family secret is what prompted Missy Zolecki to get herself tested before getting pregnant back in 2000, to avoid passing on the syndrome to the next generation. But her best intentions went awry.
'He has it'
Zolecki will never forget the phone call she received from her doctor on March 22, 2001, when Matt was just a newborn.
"I think we have a problem," the doctor told her.
After spending thousands of dollars on pre-implantation genetic diagnosis testing and in-vitro fertilization-to guarantee Zolecki and her husband, Mark, would not have a child with Fragile X-a test taken after their first baby's birth proved otherwise.
"The Fragile X test is positive," the doctor told her, referring to a test through Matt's umbilical cord blood. "Matt has full-blown Fragile X."
Zolecki was dumbfounded, only managing to say: "Oh, that can't be right. It must be a contaminated sample."
But the sample was not contaminated. A follow-up test confirmed the dire diagnosis.
Zolecki tried to compose herself and call her husband, the man whom she repeatedly encouraged to go through the whole pre-testing process. She sounded fine until he answered her call. All she could muster through tears and choked emotions was, "He has it."
She then clutched her precious 12-day-old baby boy, sat on the floor and cried until her husband came home. The next several days were a blur. Zolecki remembers feeling devastated, embarrassed and guilty for what she had done.
The couple eventually had to tell their families and friends, but weeks went by before they revealed the shocking news.
"I wasn't ashamed of Matt," she recalls. "I was ashamed of myself. Little did I know that a cavalier doctor made a decision for us that would affect our lives forever."
It turns out that one of their three transferred embryos had a "questionable" diagnosis. But they were never told this until after Matt's birth. The couple was infuriated, which sadly overshadowed their bald, blue-eyed bundle of joy.
"I got so consumed with anger at this doctor that I wasn't able to enjoy the sweet, adorable gift of a child I had been given," Zolecki says.
Her anger lingered for months, even as Matt started reaching normal developmental milestones. Until, that is, when he turned 18 months old and the couple noticed the first red flag.
"He didn't talk like he should have," says Zolecki, who would have to wait two and half years until she heard her first "Mama."
A second child?
And a third?
The couple badly wanted a sibling for Matt, believing it would be the best thing for their family. But should they again roll their genetic dice? They contacted the same medical firm that performed the previous tests and learned that the doctor who botched Matt's case had moved out of state, chased by litigation against him.
"They assured us that things would be different, and they were," Zolecki says.
Their next child, a daughter named Paige, arrived just before Matt's second birthday. Her cord blood test came back negative, to confirm their previous tests. Another child, a son named Jack, arrived in 2006 along with another negative diagnosis for Fragile X.
But the same can't be said for Zolecki's extended family.
Zolecki's older sister, Mahoney, who first found out about the family's genetic history, has a 15-year-old son with the condition.
"I prayed and prayed it wasn't Fragile X," says Mahoney, who noticed "something different" about her son, Sam, when he was 18 months old. "The only reason we gave him the test was to cross it off the list of possible explanations."
The sisters' extended family doesn't know if their mothers, grandmothers and ancestors had Fragile X. But it may help explain some of their conditions, behavior problems and movement disorders, they believe.
Dr. Elizabeth Berry-Kravis, a Fragile X expert from Rush University Medical Center in Chicago, says the frequency of diagnosis in this country is 1 in 4,000 children. (Roughly 1 in 160 women is a Fragile X carrier.) But most parents don't know their child even has the condition due to lack of public awareness.
If you ask 10 people in your circle of friends, family and coworkers, chances are nine of them, at least, will admit they have never heard of Fragile X, experts say. Such ignorance can wreak havoc with the expansion of Fragile X cases, as well as the possible misdiagnoses of autism, its sister condition.
Zolecki is convinced that too many children are getting diagnosed within the autism spectrum when, in fact, they have Fragile X.
"Different learning techniques that work for Fragile X kids don't work with autistic kids, and vice versa," she says.
Berry-Kravis recommends a DNA test for parents, but its cost, between $400 and $600, is typically not covered by insurance companies. Her hospital is involved in a pilot program that offers free screening tests for newborns. She also suggests that kids already diagnosed with autism should get tested for Fragile X.
"Fragile X's gene frequency is relatively high in our population," she says.
A technological twist of fate
Zolecki has been proactive about her son's condition since she came to grips with it. She has spoken at a Fragile X conferences and she recently started a new support group in the Chicago metro region.
She also has participated in multiple research projects, including a clinical trial of a new drug to treat the condition. Matt was one of the first patients on one of the first cutting-edge medications ever developed.
The drug, arbaclofen (also called STX209), has been working, too, allowing Matt to transcend things he couldn't beforehand, such as anxiety and meltdowns.
He's even making significant progress in his public school.
The Zoleckis readily admit their life is not "all roses and butterflies" all the time, but they have no regrets.
"Looking back, I wouldn't change anything," says Mark, as he helps set up the fundraiser at the bowling alley.
His wife agrees, while adjusting Matt's shirt, saying, "Would I ever ask to have Fragile X? Absolutely not. But I can say with all honesty we have received more blessings because of this diagnosis than I ever could have imagined."
The first-time event, which included eight other families affected by Fragile X, raised $675 for the new local chapter of the National Fragile X Foundation.
"Matt is the sweetest, most empathetic child I have ever seen," Zolecki says. "He is happy with the little things in life. And now, so are we."