COMMON GROUND FOR RARE DISORDER

Author: By Daniel A. Grech, Globe Correspondent

Date: MONDAY, June 22, 1998

Page: B1

Section: Metro

When she was diagnosed as an infant with Alfi's Syndrome, the common name for a genetic defect caused by a missing section on the ninth chromosome, doctors predicted that Chelsea would die at an early age and would never walk, talk, or recognize her parents.

This grim prognosis was familiar to the 26 families from 14 states and Canada who gathered this weekend in South Dartmouth for the first East Coast meeting of a support group for Alfi's Syndrome, a rare disorder that causes a range of physical and mental delays.

The get-together was filled with laughter -- the children hugely enjoyed a ride on an antique fire engine -- but also with the stark realities of the isolation these families face. With Alfi's Syndrome affecting only about 1 in 50,000 newborns, many of the children had never met anyone else with their disorder.

Like any youngsters, they played happily with each other. They begged their parents to push them higher on the swing. And they hid in the folds of their parents' clothing as loud claps of thunder from a summer storm rolled through the small seaside town.

But Chelsea and the other Alfi's children uniquely share the difficulties of growing up with the mental and physical disabilities that accompany the disorder. ``Sometimes I get teased in school,'' Chelsea said with difficulty, turning her eyes to her fluorescent yellow shoelaces. ``But no one ever teases you here. Other kids, they don't understand what I've been through.''

Chelsea has undergone over 20 surgeries to treat, among other conditions, two holes in her heart and a bony ridge on her forehead common to many Alfi's newborns.

Chelsea's mother, Beverly Udell of Las Vegas, is vice president of the 116-member support group that met at the home of Barbara Young, whose daughter Heather also has Alfi's Syndrome. The group was started 14 years ago in part to counter what members described as inaccuracies being circulated about the disorder in the medical community.

Udell described how doctors in one Arizona hospital were reluctant to feed a baby with Alfi's Syndrome whose death they saw as inevitable. After four days without food, the parents took the newborn home. Today, Udell said, that child is alive and coping with Alfi's.

``Often I am the first to congratulate a mother on her child, sometimes months after the baby was born,'' said Udell, who sends new support-group families hundreds of pages of letters from other parents detailing their experience with the disorder. ``But they've had a baby, not a monster.''

Udell stops, her eyes reddening. ``Ask me straight in the eyes if I would trade Chelsea for a regular child, and I will say no. Because that wouldn't be Chelsea.''

Udell's feelings were shared by many other parents. Due to its rarity -- newborns are 50 times more likely to suffer from Down's Syndrome, the most common form of mental retardation -- many of the parents at the meeting had never seen other Alfi's children.

``I have never seen other children like mine,'' said Mary Jo Chime, who traveled from New York City with her 14-month-old daughter, Nkechi. ``It's nice to speak to other parents, to see what features my girl might have.''

The human genome is made up of 23 pairs of chromosomes. Alfi's Syndrome results when a piece of the ninth chromosome is missing at conception. In most cases, this deletion occurs randomly, but 15 percent of cases are passed on by parents who carry translocated genes -- genomes where genetic material is mixed up. Carriers suffer no deficiencies but have a 75 percent chance of bearing Alfi's children.

Dr. Carol Crowe of Case Western University in Cleveland, who has been studying the syndrome since 1990, used this rare congregation of Alfi's children to interview parents about their children and to conduct blood tests and physical exams.

Crowe is trying to determine the relationship between the malformed ninth chromosome and the physical and mental characteristics it causes; blood tests have revealed the most severe cases correspond to the most missing material, and that children with similar amounts of missing material often look similar. But Crowe said that much is still unknown.

``Many doctors recognize there is something chromosomally wrong, but there's not very detailed information out there on the disorder,'' she said.

Ultimately, this gathering was not for parents or doctors but for the 26 children oftentimes isolated by ignorance and fear from peers.

Stacey Simmons, 15, of Austin, Texas, will be in eighth grade next year. She reads on a third-grade level, can do two-digit addition, and, like many other Alfi's children with limited fine motor skills, is a self-admitted computer junkie.

She has medium-length brown hair and an engaging smile, but has not escaped the difficulty of growing up with Alfi's. She carries the years of taunts in the form of a stuffed tiger -- Shere Khan from Disney's version of ``The Jungle Book.'' Explains Stacey, ``I like villains because they don't have any friends. But I want to be their friend.''

GRECH ;06/20 NIGRO ;06/22,07:47 GENE22

COMMON GROUND FOR RARE DISORDER

Author: By Daniel A. Grech, Globe Correspondent

Date: MONDAY, June 22, 1998

Page: B1

Section: Metro

When she was diagnosed as an infant with Alfi's Syndrome, the common name for a genetic defect caused by a missing section on the ninth chromosome, doctors predicted that Chelsea would die at an early age and would never walk, talk, or recognize her parents.

This grim prognosis was familiar to the 26 families from 14 states and Canada who gathered this weekend in South Dartmouth for the first East Coast meeting of a support group for Alfi's Syndrome, a rare disorder that causes a range of physical and mental delays.

The get-together was filled with laughter -- the children hugely enjoyed a ride on an antique fire engine -- but also with the stark realities of the isolation these families face. With Alfi's Syndrome affecting only about 1 in 50,000 newborns, many of the children had never met anyone else with their disorder.

Like any youngsters, they played happily with each other. They begged their parents to push them higher on the swing. And they hid in the folds of their parents' clothing as loud claps of thunder from a summer storm rolled through the small seaside town.

But Chelsea and the other Alfi's children uniquely share the difficulties of growing up with the mental and physical disabilities that accompany the disorder. ``Sometimes I get teased in school,'' Chelsea said with difficulty, turning her eyes to her fluorescent yellow shoelaces. ``But no one ever teases you here. Other kids, they don't understand what I've been through.''

Chelsea has undergone over 20 surgeries to treat, among other conditions, two holes in her heart and a bony ridge on her forehead common to many Alfi's newborns.

Chelsea's mother, Beverly Udell of Las Vegas, is vice president of the 116-member support group that met at the home of Barbara Young, whose daughter Heather also has Alfi's Syndrome. The group was started 14 years ago in part to counter what members described as inaccuracies being circulated about the disorder in the medical community.

Udell described how doctors in one Arizona hospital were reluctant to feed a baby with Alfi's Syndrome whose death they saw as inevitable. After four days without food, the parents took the newborn home. Today, Udell said, that child is alive and coping with Alfi's.

``Often I am the first to congratulate a mother on her child, sometimes months after the baby was born,'' said Udell, who sends new support-group families hundreds of pages of letters from other parents detailing their experience with the disorder. ``But they've had a baby, not a monster.''

Udell stops, her eyes reddening. ``Ask me straight in the eyes if I would trade Chelsea for a regular child, and I will say no. Because that wouldn't be Chelsea.''

Udell's feelings were shared by many other parents. Due to its rarity -- newborns are 50 times more likely to suffer from Down's Syndrome, the most common form of mental retardation -- many of the parents at the meeting had never seen other Alfi's children.

``I have never seen other children like mine,'' said Mary Jo Chime, who traveled from New York City with her 14-month-old daughter, Nkechi. ``It's nice to speak to other parents, to see what features my girl might have.''

The human genome is made up of 23 pairs of chromosomes. Alfi's Syndrome results when a piece of the ninth chromosome is missing at conception. In most cases, this deletion occurs randomly, but 15 percent of cases are passed on by parents who carry translocated genes -- genomes where genetic material is mixed up. Carriers suffer no deficiencies but have a 75 percent chance of bearing Alfi's children.

Dr. Carol Crowe of Case Western University in Cleveland, who has been studying the syndrome since 1990, used this rare congregation of Alfi's children to interview parents about their children and to conduct blood tests and physical exams.

Crowe is trying to determine the relationship between the malformed ninth chromosome and the physical and mental characteristics it causes; blood tests have revealed the most severe cases correspond to the most missing material, and that children with similar amounts of missing material often look similar. But Crowe said that much is still unknown.

``Many doctors recognize there is something chromosomally wrong, but there's not very detailed information out there on the disorder,'' she said.

Ultimately, this gathering was not for parents or doctors but for the 26 children oftentimes isolated by ignorance and fear from peers.

Stacey Simmons, 15, of Austin, Texas, will be in eighth grade next year. She reads on a third-grade level, can do two-digit addition, and, like many other Alfi's children with limited fine motor skills, is a self-admitted computer junkie.

She has medium-length brown hair and an engaging smile, but has not escaped the difficulty of growing up with Alfi's. She carries the years of taunts in the form of a stuffed tiger -- Shere Khan from Disney's version of ``The Jungle Book.'' Explains Stacey, ``I like villains because they don't have any friends. But I want to be their friend.''

GRECH ;06/20 NIGRO ;06/22,07:47 GENE22