Family learns about Fragile X Syndrome

PLAINVILLE, Ill. — When Jesica Huber describes the past nine years as an emotional roller coaster, she is probably erring on the side of understatement.

For Jesica and her husband, Tony, those nine years have admittedly been incredibly frustrating, yet simultaneously rewarding and heartwarming.

The Plainville couple have learned more about a condition called Fragile X Syndrome than they ever knew existed. In fact, until about nine years ago, they never knew there was such a thing as Fragile X. That’s about the time when Andrew came into their lives, first as a foster child, then as an adopted son.

“Andrew came to us two days after his second birthday,” Jesica said. “He ate food off a plate like a pet because he did not know how to hold a fork or a spoon. It was like starting with a newborn in a 2-year-old body.

“Andrew’s hyperactivity level was through the roof. He had night terrors and would hardly sleep for two hours at a time.”

Andrew was diagnosed with Fragile X Syndrome, which after years of research is now considered the leading cause of inherited mental impairment and the leading known cause of autism. Fragile X is caused by a change or mutation in a gene on the X chromosome.

The impairment can range from learning difficulties to more severe cognitive or intellectual disabilities. The full mutation of the syndrome is estimated to occur in about one in 3,600 males and one in 4,000 to 6,000 females -- although the Eunice Kennedy Shriver National institute of Child Health and Human Development reports there is still no concrete research available on how many individuals may be affected by Fragile X.

Ongoing studies have indicated as many as one in every 129 women and one in every 350 men are carriers of the gene, in most cases unknowingly.

Physical features such as a long face and prominent ears are sometimes seen in individuals with Fragile X, often times becoming more pronounced after puberty. Other symptoms include speech delay, anxiety, and being easily distracted and impulsive, with symptoms of attention deficit hyperactivity disorder or attention deficit disorder and aggression. Other stereotypical behaviors such as hand flapping and chewing on clothing or specific objects may also be present.

There are only a handful of medical centers in the nation that specialize in Fragile X Syndrome.

“We’ve had to figure out most of this on our own,” Jesica said.

Tony agrees.

“It has definitely been an educational process,” he said. “We have to try and stay on top of all the information that is out there.”

The Hubers work primarily with specialists at Rush University Medical Center in Chicago, which began its Fragile X clinic in 1991. Rush maintains affiliations with specialists in numerous fields who have experience working with individuals with Fragile X Syndrome.

“I have the clinic’s number on my cell phone,” Jesica said. “I call with questions and/or concerns and they call me back within a day or so. It’s a wonderful place.”

The Hubers, who have a second son, Ethan, 8, who was born in February 2003, relish the progress Andrew has made in recent years.

“I really enjoy seeing the â everyday miracles’ Andrew has accomplished,” his mom said. “These are things Andrew can do that typical parents take for granted. For instance, it took almost two years for Andrew to kiss me or hug me. It was a big deal when Andrew could tell me when his tummy hurt.

“Andrew was very aggressive early on, and he did not know how to interact.”

Seeing the world through Andrew’s eyes is “quite amazing,” according to Jesica.

“He loves everybody and everything,” she said. “He is happy as soon as his feet hit the floor each morning. Needless to say, Andrew is full of life.”

One of Andrew’s talents is an incredible memory. Jesica said he loves to sing and re-create Mass. He also loves to ride his bike and play with his huge dog named Buddy.

“Andrew loves going to church, going out to eat and even grocery shopping,” Jesica said. “These are skills that have taken a ton of hard work to be successful at. Sometimes our outings go better than others, but it shows us that all this is such a learning process for Andrew, Ethan, Tony and myself.

“Not every day is peachy, there are many highs and lows ... but the sky is the limit for Andrew.”

The Hubers feel when Andrew is older he will eventually be able to have a job and build a life of his own.

“We’ve seen great advances in the understanding of Fragile X and in medical treatments in the past few years,” Jesica said. “Our goals for the future are the same as every other parent -- we want Andrew to be a happy and productive member of society, in a community that supports him.”

While Andrew has learned a great deal in recent years, Jesica and Tony said he has also served as a unique sort of instructor. Through their son, the Hubers have been taken down roads they never knew existed. They’ve also learned a great deal about compassion.

“And unconditional love,” she said.

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