- The Washington Times - Sunday, February 24, 2002

Kathy and John May clearly are delighted by their son Sam, a handsome and gangly 12-year-old with huge blue eyes. As Sam finishes up his lunch of a hot dog and pretzels at the kitchen table in his Fairfax home, the family interacts with the affection and loving exasperation familiar to parents and preteens the world over.

Sam's world, like that of many children his age, orbits his parents, school, sports, superheroes and video games.

He's working on a Batman timeline for the school "Show What You Know" fair and plays tennis with his dad every weekend. Mr. May, a 51-year-old computer programmer, calls his son "my buddy."

Although it may be a good life, it's not an easy one, because Sam May has Fragile X Syndrome.

Fragile X is the most common genetically inherited form of cognitive impairment currently known, according to the National Institute of Child Health and Human Development, part of the National Institutes of Health. The syndrome results from a defect on the X chromosome, and the effects may range from a mild learning disability and hyperactivity to severe mental retardation and autism.

Families have been aided by a growing body of knowledge about interventions, including medications and behavioral therapy, for children with Fragile X. Yet, the pain associated with a Fragile X diagnosis is more searing when parents consider the limits that always will define the lives of their loved ones, say advocates for the disabled.

"Sam's options in life are now limited," says Ms. May, 42. "He is always going to need support, and he won't live entirely independently."

Ten years ago, Sam's mom knew something was not quite right with her toddler son. Her suspicions were confirmed when a doctor said genetic testing revealed that Sam was affected by Fragile X.

"All of us have to face realities about our lives and our children," says Ms. May, a family support specialist for the Arc of Northern Virginia, a nonprofit organization dedicated to advocacy for the developmentally disabled and their families. She became a family support specialist after Sam was born.

"But in one instant, a doctor said some words to us that changed our lives, and our son's life forever in a not positive way," she says.

Many people have heard words of that sort since the late '70s, when Fragile X first got a name. Approximately one in 3,600 boys and one in 4,000 to one in 6,000 girls are affected by Fragile X, says Robert Miller, executive director of the National Fragile X Foundation. The foundation, a nonprofit organization based in San Francisco, offers information, support and referrals to members of the Fragile X community.

"But the numbers that really make people gasp are these: One in 259 women is born a carrier, and one in 700 men," he says.

The Centers for Disease Control and Prevention offer slightly different interpretations about the prevalence of the syndrome. The CDC numbers: One in 4,000 males to one in 6,000 have the full mutation and one in 8,000 to one in 9,000 females may be affected.

"Yes, some would say it's much more common, some would say it's less," Mr. Miller says. "The truth is, nobody really knows the exact numbers. There has been no massive nationwide screening. But no one is disputing that Fragile X is the most common genetically inherited form of cognitive impairment."

Some men and women with Fragile X can live their entire lives and not realize they carry the defective gene. Women who are carriers have a 50-50 chance with every pregnancy of passing on the gene to their children, whether sons or daughters. Men who are carriers will pass on the gene to all of their daughters, who then will be carriers. However, these fathers will not pass on the gene to their sons.

Prenatal testing such as amniocentesis or chorionic villis sampling, also known as CVS, do not reveal the presence of the faulty chromosome.

"We had no prenatal testing anyway," Ms. May says. "I was young and there was no history of disability. However, my mom had a brother who died at the age of 4 months of 'crib death.' It leads me to believe he actually had Fragile X."

New lessons to learn

A history of Fragile X did not deter Silver Spring residents Liz and Bill Pribac from starting their family three years ago.

"Isn't he cute? Isn't he just so cute?" says Mrs. Pribac, 31, as her sturdy son Trevor enjoys a morning snack of goldfish crackers and pears. He is gently bouncing in a plush rocking chair in his living room.

When she became pregnant with Trevor, Mrs. Pribac informed her doctor of the family link to the syndrome. Her brother, Jason, 24, is affected by Fragile X. But routine, early prenatal testing revealed nothing abnormal, "and our thinking was, 'More prenatal testing what would that do?' You're already at the end of your first trimester by then," she says.

Mrs. Pribac's mother noticed Trevor's eye contact seemed off when the baby was 6 weeks old. At 8 weeks of age, he was tested for Fragile X.

"The doctor called with the news," says Mrs. Pribac, a nursery-school teacher. "Of course I was devastated; I was crying."

Mr. Pribac, a 33-year-old teacher and athletics coach at St. John's College High School in Northwest Washington, reacted similarly. "I was a little numb about the whole thing. And we get some gasps of shock from people who say, 'Oh, you knew it might happen and you still had kids,'" he says.

The family entered the county's program for children with special needs when Trevor was 3 months old. The baby received occupational, speech and play therapy every week and continues to benefit from special-education instruction.

The Pribacs say they believe early intervention has been key in shaping their son's happy and fairly flexible nature.

Still, "the things that we take for granted don't come easily" to people with Fragile X, Mrs. Pribac says.

Large crowds bother Trevor, and he is very difficult to handle solo on a shopping expedition. He doesn't know how to ride a tricycle. The Pribacs plan soon to begin toilet training their son, but they don't expect him to master the skill until age 7 or 8.

Although Trevor cannot yet form words, he does enjoy a grasp of what is called "receptive language" he understands much of what his parents say to him, especially if the communication is accompanied by a gesture.

And he uses pinching hard pinching as a way to express himself.

"It's like a release," his mother says. "We think it's a sensory thing. We get pinched when he's being ignored or wants something."

Having Trevor in their lives has taught the Pribacs lessons they say they would have never learned if they had a typically developing child, they say.

"It's taught us a lot of patience and tolerance, and through that, I have a lot more of both in dealing with a lot of people," Mr. Pribac says.

The couple worries about their son's future, his father says. "It's hard to say just where he's going to be. Hopefully there will be a support group for him. One of our biggest fears is that he'll end up alone."

Paving the way

Jack Busby's future is here, and he is far from alone. The 36-year-old man with Fragile X Syndrome shares a large, immaculate home in Fairfax with four other disabled men. A live-in counselor guides the residents.

Weekly schedules help keep them on track. The chores, including meal preparation, are rotated.

All of the residents work full-time jobs with varying levels of support. Most participate in weekly Special Olympics sports activities, and every Saturday they leave the house en masse to enjoy activities such as movies and restaurant meals.

After a spaghetti dinner one evening, a shy and polite Jack complies with the request to show visitors his bedroom, where a small karaoke machine sits in one corner and a Bible rests on the nightstand.

He talks about his job processing mail at a specially supported workshop and comments that working with the computer is his favorite activity.

"I like sending e-mail to people sometimes to my parents and my uncle," he says. Later, his mother, Mary Beth Busby, chats with Jack and his housemates as she tends to a couple of skin irritations on her son's legs.

Mrs. Busby and her husband, trade lawyer David Busby, visit their son weekly at his home and frequently take him to the District to spend the weekend with them in theirs. Mrs. Busby is 62; her husband is 76.

The couple is very active in the Fragile X community. Mrs. Busby serves as vice president of FRAXA Research Foundation, a Massachusetts-based nonprofit organization that focuses on treatment for the syndrome. Her days are filled with meetings on Capitol Hill, speech-writing, and handling calls from families.

Mr. Busby, not yet retired from his law firm, also serves as counsel for FRAXA.

In fact, the Busbys have two adult sons with Fragile X. Robert, who is 17 months older than Jack, lives in a special-needs community near the Busbys' hometown in Oklahoma.

"We didn't realize that Robert had a problem when I got pregnant with Jack," Mrs. Busby says. "But [Fragile X] hadn't been discovered yet. It was discovered in 1967. Our boys were born in '64 and '65. It didn't get a name until 1979." In fact, the family did not receive the Fragile X diagnosis until 1982 when the boys were 17 and 18 years old.

"It was obvious they were mentally retarded, but we didn't know what it was. Robert never slept through one night until he was 6 years old," Mrs. Busby says.

A new road

Many people the Busbys and Mays included believe that Fragile X Syndrome is a condition that will be treated in the future.

They join Katie Clapp, co-founder and president of FRAXA Research, in the race for a cure. FRAXA-funded research focuses on three areas:

• Gene therapy, or inserting a new, undamaged gene into a person.

• Gene repair, or fixing the defects within existing genes.

• Psychopharmacology, or using existing medications or discovering new medications to treat the symptoms of Fragile X. Ms Clapp calls pyschopharmacology the most promising area.

Since 1999, FRAXA has funded more than $1.5 million annually for postdoctoral fellowship and grant projects. Members of FRAXA also have worked closely with federal administrators to increase the pace of government-funded research. This year NIH will spend $4 million on Fragile X-related research, another $1.2 million on projects funded in conjunction with FRAXA, and has committed to spend more than $3 million on three or more Fragile X research centers across the country.

None of this can be soon enough for families affected by Fragile X.

Ms. May, Sam's mother, is a FRAXA co-founder who serves on the board. She explains why she would like to see Fragile X Syndrome eradicated.

"Sam gives us all the pleasure and love that we ever wanted. I know other parents sometimes can't see that. The honest truth is that Sam is the child we always wanted, but his choices are different, and that's the bad part. I wouldn't change anything for us, but I would for him," she says.

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