Football helps Colorado man cope with challenges from rare genetic disease

A ton of energy and one quick sprint to the end zone scored now-27-year-old Ian Weber a football career that lasted more than a decade.

But Ian’s developmental delays have prevented those touchdowns from putting points on the scoreboard.

At 20 months old, Ian was diagnosed with Fragile X syndrome (FXS), or Fragile X, a genetic condition that causes intellectual disabilities and learning challenges. Ian’s mother, Jayne Dixon Weber, said a book from the local library told her and her husband that their son would eventually need to be institutionalized.

“It scared me to death,” Jayne told FoxNews.com. “I was almost in disbelief that I was hearing about a 2-year-old that was gonna end up in an institution. I resolved to do everything I could for that not to happen.”

But Ian didn’t let his condition hold him back. Even after he graduated from Fairview High School, in Boulder, Colo., he continued to suit up with the football team every season until two years ago, when his coach retired and Ian’s family felt it was time for the inexhaustible player to retire too.

Ian kicked off several games running down the field and into the end zone. Opposing teams never physically tackled Ian— instead, they let his routine opening touchdown fire up Fairview’s team, and its fans, every time.

Ian’s positive energy and sense of humor excited many of the 2,000 students at Fairview. And they could never forget it. Over the span of 12 seasons, Ian said he’s scored almost 100 touchdowns.

"Usually kids with Fragile X really like sports, and they can even obsess over it," Dr. Randi Hagerman, a distinguished professor of pediatrics, and an endowed chair in Fragile X research at the University of California, Davis School of Medicine, told FoxNews.com. Hagerman added that, despite that affinity, not all children with the condition excel in athletics.

Confronting the unknown

According to the National Institutes of Health (NIH), Fragile X occurs in an estimated 1 in 4,000 males and 1 in 8,000 females. It leads to behavioral and learning challenges similar to the likes of Autism Spectrum Disorders (ASD), and is characterized by certain physical features, including large ears, a long face and flat feet.

Jayne first noticed an abnormality when Ian had trouble sitting up on his own at 10 months old. The pediatrician insisted he was fine, but Jayne sought a second opinion from a physical therapist.

Social workers then noticed other challenging behaviors and suggested Ian gets tested for Fragile X. The test confirmed his condition, and Ian quickly started speech, physical and occupational therapy.

The Webers enrolled Ian in an inclusive preschool that included typical students and those with developmental disabilities. But staff at the school knew as little about the condition as Jayne did, and no one knew what to expect.

Jayne quickly saw the challenges Ian would face. She gave up her engineering career and dedicated her life to finding the most effective ways to teach her son.

But the lack of accessible research on the condition left Jayne sorting through the maze of Fragile X. She studied her son, and the educational and therapeutic options available, and then did the research herself.

In 1994, Jayne wrote her first book, “Transitioning ‘Special’ Children into Elementary School.” Soon after, the National Fragile X Foundation (NFXF) contacted Jayne and requested to sell her book. A few years later, her studies specialized and she wrote her second book, “Children with Fragile X Syndrome: A Parent’s First Guide.” Jayne began working part time for the NFXF in 2007.

The importance of inclusion

Ian was an extremely active child, and like most other Fragile X patients, he learned by watching other people’s actions. In physical education classes, Ian spent a few days observing kids play basketball before he learned how to shoot the ball.

Ian also followed the 'sensory diet,' an occupational therapy strategy that alternates between using gross and fine motor skills. He would be active for a short time, and then sit down to relax and practice those skills.

Other treatment options for Fragile X include counseling and behavioral interventions, Hagerman said. Doctors prescribe these in addition to medications like Minocycline and Sertraline, which can improve an individual’s language development and motor abilities.

But forming the right combinations is key to seeing results.

“The combinations of the individual therapies together with the targeted treatments work best,” Hagerman said. “But you have to guide the treatment plan carefully.”

Fragile X syndrome begins with a premutation on the FMR1 gene on the X chromosome.  When it becomes a full mutation, the gene shuts down and cannot produce an important protein called FMRP.

“The lack of the Fragile X protein FMRP actually deregulates a number of systems in the brain,” Hagerman said. “When FMRP is missing, many other genes produce way too much protein from their specific genes, and so that actually interferes with normal development.”

The characteristics of Fragile X are more likely to appear in males than in females because the Y chromosome in males cannot make up for the FMRP absence.

“Even though [females] might have a full mutation on one of their X chromosomes,” Hagerman said, “the other one is producing protein. So females are less affected because they’re producing a deficient, but still significant, amount of protein.”

In Ian’s case, tests concluded Jayne was the carrier, but at the time of her pregnancy, she could not have known. Screening through a woman’s OB-GYN has only become commonplace in the last few years, Hagerman said.

Living with Fragile X

There are no life-threatening health risks associated with Fragile X, but it can lead to behavioral challenges including Attention Deficit Hyperactivity Disorder (ADHD), social anxiety and an increased risk for aggression.

Ian gets anxious often and makes sure to keep up with the schedules of local events, including the “Band on the Bricks” concert series in Downtown Boulder. He must know which group is playing every Wednesday, at what time, and exactly how long he’ll be staying to watch it.

“Anxiety kind of runs his life,” Jayne said.

But more than nine years of bagging groceries at the local food store has made Ian more comfortable in social environments, and it helps quell his anxiety.

“Just reading and talking to your child, and enriching the environment and types of exposures your child gets” is a crucial part of confronting Fragile X, Hagerman said.

Over the years, Ian’s contagious personality has also sparked friendships with local firefighters. He has visited all seven stations in Boulder, and frequently delivers food and helps wash their trucks.

But Ian can still exhibit behaviors typical of people with Fragile X, including shaking his hands, jumping up and down, and skipping.

“When the kids are young, you’re kind of hypersensitive to what other people think,” Jayne said.“I’m past that now, and I’m thankful that I am."

What’s up next?

Medications helpful in treating Fragile X syndrome are a portal to understanding and developing treatments for other intellectual disabilities as well, including autism, Hagerman said.

As for Ian, Jayne said if he continues working at the food store and stays active within his community, he will continue to grow and learn. Despite his developmental delays, Ian’s energy and attitude work in his favor.

“Ian’s view of the world is a pretty nice view,” she said. “He doesn’t see mean people; he doesn’t see all the realities of life that we see. He sees good people, and he sees the best in everyone.”

For more information on Fragile X, and the National Fragile X Foundation, visit fragilex.org.