Moms Work to Shed Light on Little-Known, Autism-Like Fragile X Syndrome

Like typical kids, the Zoleckis of Plainfield – Matt, 10, Paige, 8, and Jack, 5 – just wanted to escape the 100-degree heat Wednesday and get inside the air conditioning.

“C’mon, Mom!” they took turns shouting. Jack ran around the putting green at in Romeoville while Matt packed up his golf clubs and Paige focused on her Nintendo DS. But as soon as she heard Matt growing upset over his golf bag falling off his shoulders, she sprang into action, jumping up from the ground and to his rescue.

When a reporter then inquired about taking photos, Paige said: “I’ll go wherever Matt wants to go.”

To outsiders, Matt and kids like him may just seem shy and awkward. But families affected byFragile X syndrome know how a minor frustration can quickly escalate into a drop-to-the-ground tantrum if steps aren’t taken to ensure calmness.

Fragile X syndrome is a mental impairment caused by a mutated X chromosome that appears fragile or disjointed under a microscope. The culprit gene was discovered in 1991. There is no cure, and medications are only in trial stages. But a simple blood test can detect the disorder, and genetic counseling and other protocol can minimize the risk of passing it from one generation to the next.

Friday is National Fragile X Awareness Day.

The Zoleckis and other families want to spread the word about Fragile X syndrome, particularly to parents of autistic children, couples having trouble getting pregnant, women experiencing early menopause and families with a history of Parkinson disease.

“I want people to hear of Fragile X and know that it is a family of disorders,” said mom Missy Zolecki, whose avid advocacy includes traveling to national conferences, supporting research and forming a Plainfield-area support group, FX Families of SW Chicago Links Group, reachable via Facebook. “It is a hard concept for people who don’t live it on a normal basis.”

“It’s important for children to get diagnosed early and properly, and for adults to know if they have it or anyone else in their family has it and can pass it on,” said Robyn Sheldon, a Plainfield resident whose son Glenn, 12, has Fragile X. “Early intervention and genetic counseling are important. The answer could be a blood test away.”

Fragile X, according to the National Fragile X Foundation, occurs in approximately one in 3,600 males and one in 4,000 to 6,000 females.

In Zolecki’s family alone, 17 people have been diagnosed with Fragile X.

Fragile X carriers like Zolecki and Sheldon are at risk for two carrier-associated disorders. Fragile X Primary Ovarian Insufficiency, known as FXPOI, causes premature menopause and infertility problems. Fragile X Associated Tremor/Ataxia Syndrome, or FXTAS, a neurodegenerative disorder most common in men, typically presents symptoms such as tremors and difficulty walking around age 50.

“Oftentimes FXTAS is diagnosed as atypical Parkinson's,” Zolecki said. “Then once a family has a child diagnosed with Fragile X and they look back in the family, they have an explanation for why Mom went into menopause in her 20s or 30s and why Grandpa has ‘Parkinson’s’ that isn't responding to treatment.”

Because Fragile X is the only known genetic link to autism and can cause fertility problems, a genetic blood test is recommended for autistic children and women struggling to get pregnant.

Without screening in advance of fertility treatments, couples who are carriers for Fragile X can unknowingly pass on the disability to their children. With advance screening, couples can reduce the risk.

“Can you imagine undergoing fertility treatments to then have a child born with Fragile X or perhaps triplets?” Zolecki asked. “I know several families with that very same scenario.”

Kids with Fragile X experience cognitive, speech and fine motor delays and have sensory issues and other autistic-like behaviors, with approximately 30 percent having a dual diagnosis of Fragile X and autism, Zolecki said.

“But learning and teaching strategies that work for autism,” she said, “don’t necessarily work for Fragile X and vice versa.”

Sheldon added: “There are a lot of kids out there who are misdiagnosed because they just get coined as autistic.”

Matt Zolecki and Glenn Sheldon, who are in clinical drug trials under the care of Dr. Elizabeth Berry-Kravis, a specialist in pediatrics and child neurology at Rush University Medical Center in Chicago, share bus rides to attend Clare Woods Academy in Bartlett, a private alternative day school for students with special needs.

Glenn, who will enter seventh grade with a first-grade reading level, has been a student there since second grade. Matt switched this summer from Plainfield schools.

Occupational therapy to improve fine motor delays such as handwriting issues and a sensory diet that includes a horizontal “hug machine” are part of the curriculum at the school, Robyn Sheldon said.

“Glenn is high functioning, but socially and emotionally his behavior is affected,” she said. “He’s very social, but also one to sit back and watch rather than join in. Once he knows you it’s a different story whereas some autistic kids may not join in at any point.”

While he struggles to pick up small objects, is hyper sensitive to loud noises and gets upset with changes in routine, Glenn finds enjoyment in riding his bicycle – something many kids with Fragile X can’t do because of poor bilateral coordination – and watching movies.

At Mistwood Golf Club recently, where he and his mom visited with the Zoleckis as Matt finished his golf clinic with the Joliet-Bolingbrook Special Recreation Association, Glenn appeared shy but very polite, repeatedly answering “I’m fine” no matter the question.

When Matt Zolecki gets overwhelmed with conversation, he might repeat “How are you?” rather than have to process a new question and answer, or talk about his grandpa, who brings him a sense of calm and comfort.

“If someone asks him a question that makes him nervous, he’ll talk about my father-in-law,” Missy Zolecki said. “He really wants to be social, but when you direct questions back at him it creates hyper arousal.”

Hyper arousal can cause finger biting, a flushed face and what she calls “growly speech” before a drop-to-the-ground meltdown.

“Glenn does what I call the sit-down strike,” Sheldon said. A change in routine, such as a different-numbered school bus arriving, can cause the “strike.” If it lasts more than two minutes, the bus moves on and Glenn’s father drives him 50 minutes to school.

To help prevent strikes, Sheldon has Glenn take control as much as possible, whether it’s creating the daily schedule and checking off events or choosing grocery checkout lanes to avoid people who make him nervous.

When Glenn was diagnosed with Fragile X at age 4 by their pediatrician, Robyn and her husband Jim had never heard of it. Since then, her sister was diagnosed as a carrier and with multiple sclerosis, which could be related.

Before considering pregnancy, Missy Zolecki knew she was at risk for Fragile X since her sister’s child was diagnosed in 1996. She was tested, confirmed as a carrier and later underwent a pre-implantation research protocol to minimize the risk of passing the mutated gene to her child.

“Fragile X people have a hard time getting pregnant, don’t make lots of eggs and the quality of the eggs is poor because of the rapid path to menopause,” she said.

Three supposedly healthy embryos grew from 18 eggs and were implanted.

“When Matt was 12 days old, my doctor called and said, ‘I think there’s a problem,’” Zolecki said of learning the third embryo was actually questionable and another doctor had withheld the information. “We got over the shock and realized we had a really cute baby. I can’t be angry over having what I have when I could have nothing.”

But technology is improving rapidly when it comes to genetic testing and counseling. The process was successful in looking for linked markers and helping to create Paige and Jack Zolecki, who do not have Fragile X.

“Paige is incredibly smart and helps and encourages Matt,” Zolecki said. “When Matt is upset, Jack has an uncanny ability to turn him around. Paige and Jack are growing up with an advantage of understanding that people have differences.”

FX Families of SW Chicago Links Group will host its inaugural Fragile X Charity Golf Classic at Mistwood Golf Club in Romeoville on Aug. 12. Money raised will support a local educational workshop in October; local families through group meetings and family events; the National Fragile X Foundation’s mission of providing awareness; and the Fragile X Clinical & Research Consortium at Rush University Medical Center. For more details, visit www.golfdigestplanner.com/18972-FragileXGolf.