"Our sweet boys deserve more than a footnote."

Fayetteville resident Marie Hays' heart audibly breaks when she describes the lack of research concerning XXYY Syndrome, the rare genetic disorder that afflicts her 19-year-old son, Alex Hampton.

Most boys have 23 pairs of chromosomes, the last pair containing an X and Y (XY). However one in every 50,000, like Alex, are born with four chromosomes in the last set (XXYY), instead of two.

"From early on Alex had obvious difficulties," Hays explained. "He began speech therapy when he was fifteen months old, but couldn't say 'Da Da' until age 3. There were also respiratory, eating, and motor skill problems. Doctors couldn't figure out what was wrong."

Beginning at age 7, Alex visited his pediatrician every four months to monitor difficulties related to his disorder. The pediatrician sent Alex to an endless stream of specialists, none of whom could adequately explain all of his problems.

"Every diagnosis was like forcing a square peg into a round hole," said Hays. "Nothing seemed to fit."

Finally, when Alex was 14, his pediatrician's eyes lit up. Thinking she had detected symptoms of another, more common, disorder in Alex's facial features, she asked, "We've done genetic studies, haven't we?"

They hadn't. But they did. Tests revealed not the more common disorder the pediatrician had suspected, but the rare XXYY Syndrome.

Alex and Marie went to Emory University Hospital, where doctors and geneticists could say little more than, "We've never seen anyone like you before!"

Marie began researching XXYY Syndrome. She first searched for information, but found little. She then searched for other families in Georgia facing similar circumstances, but found no one (in fact, to this day, she has found no one else in Georgia with this particular chromosome disorder).

"One woman responded to something I'd posted on the Internet," Hays confides quietly. "Her doctor had diagnosed her unborn child with XXYY Syndrome. When he described the kind of life her unborn son faced, rather the kind of life he thought her unborn son faced, she terminated the pregnancy. She asked me what life was like with Alex."

Herein lies the problem, and the basis of Hays' crusade.

Information concerning XXYY Syndrome is so scarce and inaccurate that even the best doctors don't understand it. The only significant study concerning the disorder was performed in the 1960s on a few prison inmates. The study reported great violence among the participants, and concluded that this particular chromosome anomaly has dire consequences that require lifelong institutionalization.

Not only was the study extremely limited in scope, later discoveries showed the men involved did not even have XXYY Syndrome. The participants suffered from a different chromosome disorder that does, indeed, result in violent behavior. Even so, this study is the one most frequently cited (albeit only in footnotes) when XXYY Syndrome is mentioned in medical journals.

In her search for other families dealing with similar circumstances, Marie eventually discovered the XXYYparentnetwork, an Internet-based support group consisting of about one hundred families from around the world. Through this network Marie and Alex have connected with families from such places as Israel, Great Britain, New Zealand, Venezuela, and the Netherlands.

Last summer 13 of the 100 families gathered for a symposium in Massachusetts. For the first time in his life Alex met his peers, other boys with the same disorder, who looked strikingly similar, and who shared almost identical interests.

"They looked and acted like brothers," Hays explained. "They even had the same likes and dislikes. All of the boys love cars, tools, and taking things apart. They were like 13 peas in a pod."

Alex injected his thoughts on the retreat. "It felt like meeting friends I'd known all my life, but just hadn't met yet."

Parents left Massachusetts resolved to do more.

They soon gained nonprofit status for the XXYY Project, a concerted effort to raise awareness concerning the XXYY Syndrome, facilitate medical research, and to assist boys afflicted with the disorder in leading purposeful, productive lives. For more information about XXYY Syndrome, visit www.xxyysyndrome.org.

The next few months will prove critical toward accomplishing these goals. Just last week the ambitious parents learned their project has been awarded a grant that will enable a physician from the University of California-Davis to spend the next year performing the first-ever valid, reliable study of the XXYY Syndrome.

Marie's words quickened as she said, "The research will provide parents, social workers, and doctors accurate and trustworthy information that, to this point, simply hasn't existed!"

The study will center around a retreat planned for July 24-25 in Woodland Park, Colorado. In addition to mutual encouragement and support for families facing XXYY Syndrome, and helpful workshops, the retreat will allow the researcher to interact, face to face, with a large group of boys dealing with XXYY Syndrome.

"We need to get as many boys to Colorado as we possibly can; we'd hope for 30 or 40," Hays explained. "The more participants, the more valid the study."

However to bring a large group of boys from around the world to Colorado represents a difficult feat, particularly when considering the expense involved. Because of the vast medical bills incurred by problems related to XXYY Syndrome, many of the families are financially strapped. And, though the grant will finance the research, it provides no assistance for the families' travel expenses.

"Our goal is to bring 30 or more boys to Colorado, but we're not sure that many families can afford to come," Marie explained.

A local church hopes to offer assistance.

On May 2 at 6 p.m. the Fayetteville Christian Church music department will sponsor a benefit concert for the XXYY Project. The 90-minute concert will include performances from various choirs, soloists, and instrumentalists. At the conclusion of the concert a love offering will be taken to support the XXYY Project.

Kevin Adkins, music minister of Fayetteville Christian Church, offered this perspective: "The concert offers the opportunity to share the love of Christ with some families dealing with really difficult issues. We're just glad we have a chance to do something meaningful for them."

And, perhaps, we can help sweet boys like Alex become more than a footnote.

[Daniel Overdorf is the Sr. Minister of Fayetteville Christian Church, located at New Hope and Hickory Roads in Fayetteville. He may be heard each Sunday at 10:30 a.m. as a part of the church's weekly worship. Daniel may be contacted at the church office, 770-461-8763, or at [email protected].]