Doxiades Fuller was born premature at 29 weeks gestation, weighing 2 pounds 13.5 ounces and measuring 15 inches. Born with extra digits on his hands and feet, Dox, as his parents call him, was diagnosed a few days later with Pallister Killian Mosaic Syndrome (PKS) through genetic testing.

After their baby spent two months in NICU, Marion and Pamela Fuller were told to take their son home and enjoy him. The doctors said he had three weeks to live.

That was three years ago.

Ironically, the Fullers had been planning a foundation for children with special needs before they found out they were expecting one. They’d been married only a year and already had seven children between them from previous relationships. Marion, who is 51, remembers the day his 39-year-old wife found out she was pregnant.

“We were planning on getting them all out of the house and being empty nesters — we’re out of the baby business, right?” he said.

“Actually, he has been a real joy for us,” says the Nashville native, peering over his reading glasses and pointing to the child in a wheelchair.

Originally intended for troubled kids, The Bairn Foundation concept got its name from a Welsh word referring to “barn children,” kids who were outcasts of society. Still an appropriate title perhaps, the foundation idea became more specific after Dox was born and now targets helping other families dealing with PKS.

According to his parents, Dox’s genetic disorder is so rare that the doctors handed the Fullers a single sheet of paper with all the information that was known about it. Feeling certain they could find more on their own using their Internet savvy, they began researching. Unfortunately, their efforts only led them right back to the single sheet of paper they had in hand.

Now the Fullers are a source for research and founders of the largest and only viable PKS support group worldwide, which is based here in Lafayette.

“Through the support group we founded a study that was done at Oxford, England, that we provide to all our members to carry to their pediatricians,” Marion Fuller says. “In the beginning, what every parent was told about a PKS child is that they’re going to be severely retarded, bed-ridden and never walk, never talk. They won’t do anything. What we’ve found is that all this information is way outdated, and it’s wrong.”

The Fullers hope to one day get the information they have gathered published in medical journals.

“Not for aggrandizement, but for education,” Marion Fuller explains. “There’s liable to be a lot more kids out there with PKS than we know about who haven’t been genetically tested.”

Fuller’s research uncovered some interesting facts about the syndrome. According to the National Organization for Rare Disorders, PKS is “a rare chromosomal disorder that occurs for no apparent reason.” Considered a random disorder that has no known predictors, PKS is technically caused by a “Tetrasomy of chromosome 12p.” In layman’s terms,  there are four copies of the short arm of the 12th chromosome instead of the normal two.

“For nearly every chromosome you’ve got, there’s a rare genetic syndrome associated with it,” Pamela Fuller says.

Pallister Killian is a mosaic, so it does not affect every cell in the body.

Fuller learned that the percentage of cells affected does not seem to correlate with the severity of symptoms. Sometimes a child with fewer cells affected has more severity that one with much higher percentages. Cases range from a mild skin discoloration to those that are fatal. 

Dox was affected in 20 percent of his cells at birth. Because the body loses cells over time, he may have a lower percentage affected at present. Unfortunately, his condition will probably not improve because of brain damage caused by multiple apnea seizures.

Dox suffered from a tethered spine causing a 42 degree curve in his spine and required surgery to disconnect the cord from the L3 vertebrae. He’s also undergone three other surgeries for groin hernias, removal of the extra digits on his hands and feet and for dental work on his upper front teeth.

“He’s a million dollar baby,” Marion Fuller says.

The proud father says that sharing photos of the kids through the support group has been interesting.

“All these children could be brothers and sisters, especially in baby pictures. They look just like Dox. The resemblance is very strong,” he says.

Although there is no treatment or cure for PKS, the Fullers believe it is vital that parents of these children connect with others for information and support. When Dox was diagnosed, there were only about 35 known cases in history. Their support group now has 78 members — and adds about five new members per month. 

“The support group is taking on a life of its own,” says Marion. “A number of people are coming in with advice. For example, losing the enamel on the teeth — we’ve had a lot of kids that has happened to. I’d never heard of it before, and we’re beginning to see a lot of similarities.”

One practical aspect of the group is the exchange of equipment. As one child outgrows a wheelchair, for example, it can be passed on to another child.

Support group membership spans most of the globe. Parents in England, Scotland, the Netherlands, Germany, Italy, Australia and Brazil all have become members.

The Fullers say that communication problems have prevented families in the Far East and Russia from joining.

“Some countries aren’t as benevolent toward their disabled children. We want to be able to help those kids as well,” Marion Fuller says.

Dox’s parents have sent direct e-mail notices about their support facility to 200 hospitals in major cities.

“Here we are, laymen, sending info to these doctors. It’s daunting,” says Pamela Fuller, a native of Pasadena, Texas and a former administrative assistant with Compaq’s Telecom division.

She recently passed her information on two major groups working with genetic anomalies — Chromosome Deletion Outreach (CDO) and Unique (England).

“Seventy percent of our parents come to us through Internet searches. Thirty percent come from doctors, geneticists and therapists. It’s encouraging that the word’s getting out there,” she said.

Pamela has co-authored a book, PKS: The Unknown Syndrome, that shares the experiences of 17 PKS families. The authors currently are in search of a publisher.

And Fuller shares her own experiences over the Internet. In a special tribute, she has chronicled her son’s unique journey on his own Web site, www.doxiades.cjb.net. (9-25-06: his website is now http://doxiades.ne1.net)

“It’s a way to keep a log of all that’s happened,” she says.

The site sets a joyful tone, using the perspective of the child in voicing the milestones in his young life.

“Dox is a happy child,” she says. “My worst fear was that he wouldn’t enjoy life and have fun. One of the greatest moments was when he smiled and giggled when we were being silly playing with him. I know now there’s something he’s enjoying, and that’s a good thing.”

According to the Fullers, Dox also enjoys being with his brother, Eldon, a 17-year-old student at Comeaux High, especially when he gives him chocolate. And he loves his caregiver, 21-year-old Nia Henry, who is available to the family four hours a day, five days a week through the Early Periodic Screening and Diagnostic Testing medical program.

“She’s a god-send,” says Pamela.  “I love Dox to death — do anything for him. But once in a while, we need a break.”

At 3 years of age, Dox scoots on his tummy and can roll from front to back. He cannot eat solid food, so his meals must be pureed. Dox has taken a few steps using a gait trainer (technology walker). He sits in a “tomato” chair at home (an assisted seating and positioning equipment piece) and uses a wheelchair in the family car or on the school bus.

Through the Lafayette Parish School system, Dox is able to attend preschool in the special education program at Plantation Elementary. His teacher, Lori Nunez, and assistant, Victoria McCant, help Dox off the bus for morning classes four days a week. With three other special needs children in his class, Dox has art, P.E., music, circle time, library and recess. The interaction with other children helps cheer him up, says Nunez.

“He’s a joy to have,” she says. “He’s making progress. He’s more alert and aware and smiles often. He recognizes voices and enjoys musical toys. He needs hand-to-hand assistance, but he’s trying more.”

And Dox enjoys interacting with the other children.

“Dox has made a little place for himself in the classroom,” Nunez says.

The Fullers want other parents of special-needs children to have immediate access to all that is available to help them, such as the Early Intervention program.

“We’d love to set up a big camp meeting where the kids could be taken care of. The parents could meet and network and talk . It’d be wonderful,” Pamela Fuller says.

Although she may be one of the most knowledgeable people in the world about PKS, Fuller is modest about her accomplishments.

“It’s not that I want to be smarter than the doctors — I want to work with the doctor. Dox is not their most important case. I understand that. He’s my child. It’s my job to take care of Dox,” she says.

“We try to get through to these parents — that’s your child, and you’re with him 24 hours a day. The doctor may not think anything’s wrong. We’ve had parents who knew something was wrong for a year, two, three years and nobody would do anything until finally somebody did find ‘Oh, yeah, there is something wrong. Mom’s not just a worry wart.”

Even with the hardships she has endured, Fuller says her family has been more fortunate than some.

“A kid 10 years old just got diagnosed a couple months ago. He had all these problems and the doctor said, ‘We don’t know what it is.’ Ten years! These people went 10 years without support,” she says. “There’s liable to be a lot more kids out there with PKS than we know about — that have problems and haven’t been genetically tested.

“Knowing a name for something, you can look for information rather than searching for what’s going on. The main thing we tell parents is ‘Learn. Learn. Learn.’”

Christine Word is a writer living in Lafayette. To comment on this story, e-mail timesedit@timesofacadiana.com.