A local family shares its story in the hopes of helping others By Sophia Fischer sfischer@theacorn.com

DAVID DUVARNEY/Acorn Newspapers FIGHTING AS A FAMILY-The Roaches take a moment to enjoy the twilight in front of their Newbury Park home. Left to right are the "Four Ks": Kelly, Kyle, Katie and Kevin. Kyle, a freshman at Newbury Park High School, was born in 1989. In 2002, he was diagnosed with a variant of Klinefelter Syndrome. According to information from the XXYY parent network, XXYY occurs in one in 17,000 to 50,000 male births. Those affected have two X and two Y chromosomes instead of one of each. Symptoms can include behavior outbursts and mood swings, attention deficit disorder and other difficulties. The Roaches are sharing their story so that more people learn about the disorder.

They knew something wasn’t right with their son from the time he was a baby. But Kelly and Kevin Roach of Newbury Park couldn’t get a satisfactory diagnosis from doctors about their son, Kyle, now 15.

"Kyle’s speech and language skills were delayed when he was young, he walked on the late side, and once he got into school he really struggled socially," Kelly said. "He came out of me with the cord wrapped around his neck, so I thought maybe he lost some oxygen to his brain and had a little brain damage."

After many years of misdiagnoses, incorrect medications and lots of heartache, the Roaches finally solved the mystery of Kyle’s ailment. A genetic test revealed that Kyle suffered from XXYY Syndrome, a sex chromosomal anomaly that affects one in 17,000 to 50,000 live male births, according to the XXYY Project website.

Males with XXYY have two X and two Y chromosomes, instead of one of each. The rarity of the syndrome means that it’s often mistaken for other conditions including autism, epilepsy, attention deficit disorder and Asperger’s Syndrome.

XXYY can only be diagnosed through a genetic test. The cause of the disorder is unknown. Symptoms include developmental delays, speech impairment, behavioral outbursts and mood swings, learning disabilities, low muscle tone, tallness, scoliosis and hand tremors.

For Kyle, having XXYY means daily challenges academically and socially. Fellow students see him as an easy target. Kyle is harassed, teased and hit, said Kelly, and he often comes home from school with cuts and bruises. When Kelly asks her son if he fought back, he says no.

"Kyle wants so badly to be liked and for everyone to be his friend. He doesn’t get it that they’re not," Kelly said.

Kelly says she tries to stay positive, but her pain and frustration are evident.

"People don’t hear enough about these kids and what it’s like and what they go through, so they don’t have a clue," Kelly said. "The kids at school are mean. There are so many different situations in families in our society that kids are not learning kindness and the importance of treating others as you would like to be treated."

School has always been a challenge for Kyle.

He entered kindergarten at Banyan School but had difficulty with speech, language and social skills. Kelly pulled him out and enrolled him at a local Montessori school. He returned to Banyan in second grade but had severe auditory processing problems. Kelly pulled him out again and home-schooled him and his sister, Katie, now 13, for seven years. This year he reentered the public school system as a ninth-grader at Newbury Park High School, but it hasn’t been easy.

"It’s really sad. He was so excited about it and now he hates it," Kelly said. "But I felt I didn’t have anything else to offer him at home. I thought it was time for him to be out in the world. He needs to learn how to socially respond to people, but it’s really tough for him."

Kelly has been trying to get the school district to assign an aide to Kyle.

"He needs somebody to sit with him in class and work with him," Kelly said.

Kyle is now receiving occupational therapy and other assistance from the Tri-Counties Regional Center, which provides case management services to the developmentally disabled in Ventura, Santa Barbara and San Luis Obispo counties. Until recently, the Roaches were paying for occupational therapy and other services out of pocket. Kelly is grateful for help from Tri-Counties.

"They will help him when he’s older with independent living skills so that he can possibly live on his own," Kelly said. "He’s not alone in this. We’re with him."

Kelly also gets support from other parents of XXYY boys through the Aurora, Co.-based XXYY Parent Network. The families, who are located worldwide, keep in daily contact via the Internet, exchanging information and advice.

There are about 8,100 boys nationwide with XXYY, many of whom may not know they have the syndrome, according to network director Renee Beauregard, who has a 22-year-old son with XXYY.

"Part of our mission is to appeal to parents, teachers and other people working with these boys to look for signs, but it’s like looking for a needle in a haystack," Beauregard said.

Little research has been done on the disorder since it was first discovered in 1960. The MIND Institute at UC Davis is studying how to better understand and describe the problems XXYY kids have.

"We need to describe what they’re like on a day-to-day basis and do a survey of the medications used to see which helped, which were not effective and why, and try to give physicians better information on what to use," said Dr. Nicole Tartaglia, a fellow in Developmental Behavioral Pediatrics at the MIND Institute.

Roach is excited about the research being conducted by the institute. She and Kyle plan to participate in some of the studies to do whatever is necessary "to make life better for these kids."

Kelly says faith has helped her get through some tough times.

"I know why God gave me Kyle. I tend to be judgmental and Kyle is not. He forgives everybody," Kelly said.

For more information, visit xxyysyndrome.org.