STANDARD TIMES

June 21, 1998

FAMILIES LEARN THEY AREN'T ALONE
Rare genetic disorder is the bond

By Bridget McSweeney, Standard-Times staff writer

 DARTMOUTH -- A small picture of 2-year-old Stacey, now 15, sits on her mother's desk as a reminder.
    "A reminder of how cute she was, because I missed it. I was so busy worrying about her, I missed it," said Dianne Simmons.
    Mrs. Simmons described the kind of worry most parents can't imagine.
   Heart and skull operations.
   Being told your child might never walk, or talk, or that she might die with no one being able to explain why.
   Stacey is one of less than 120 children in the country diagnosed with a rare genetic disorder called 9P minus, or monosomy 9P, where part of the ninth chromosome is missing.
   The effects of the disorder can range from mild to severe mental and physical retardation.
   For the Simmons family, and the families of the 27 children gathered in Barbara Young's backyard yesterday, the words they heard following the diagnosis of their children with 9P minus were the same: Your child is the only one.
   The group -- consisting of people from around the country and Canada -- gathered in Ms. Young's backyard, however, proved children who have this rare genetic disorder are certainly not alone.
   But for many families, yesterday was the first time they ever met another family with a child who had the disorder.
   Ms. Young was inspired to put together the barbecue-style event -- complete with fire engine rides and a clown -- after having attended a similar gathering with her 16-year-old daughter, Heather, who has the disorder, in California last year.
   "There is no medical history about these children, nothing in a medical book," Ms. Young said.
   "We had not, until November 1997, ever met another family," Ms. Young said.
   She was so emotionally moved by the experience, she volunteered her house and planned yesterday's event in six months.
   Many of the families at Ms. Young's house knew each other's children through packets including letters and pictures put together by Beverly Udell of Las Vagas, Nev., the co-leader of A Support Group for Monosomy 9P.
   The network was started by John Storr of Ohio, who had a daughter born with the disorder in 1982.
   When he discovered the lack of information about the disorder, he wrote letters to all the genetic hospitals in the country asking them to give his name and phone number to any parents who have a child with the monosomy 9P.
   Mr. Storr also placed an advertisement in a magazine called "Exceptional Parent" and the responses started coming in.
   The geneticist Mr. Storr first brought his daughter to, Dr. Carol Stowe, said if he could ever find enough children with the disorder, she would start researching it.
   Dr. Stowe attended the meeting in California, and was at the Youngs' home yesterday, where she had appointments with each of the children and their families.
   It is through the group, however, that most parents find Dr. Stowe, not the other way around, Mrs. Udell said.
   Her middle child Chelsea, 10, was the 17th child to be placed on the list.
   Mrs. Udell learned about Mr. Storr and the packets of letters and photographs from one of Chelsea's therapists who saw the advertisement in the magazine.
   She has since taken over the mailings, which now include countries around the world as well.
   "He's the brains and I'm the comfort," said Mrs. Udell of Mr. Storr.
   "I'm the one who says to people, congratulations, you have a baby, not a curse," Mrs. Udell said.
   New parents always get all of back issue packets of letters and photographs, Mrs. Udell said, to give all parents all possible information about the disorder.
   While the network of parents isn't a support group in terms of meeting every week -- a logistical impossibility -- the information they are able to share with each other about the disorder has made all the difference for them.
   The moment Mrs. Udell was reading her first packet of letters, Chelsea was in the hospital with unexplained high fevers.
   The very letter Mrs. Udell was reading from another parent said if your child is suffering from unexplained fevers, have the doctors check for kidney reflux.
   Mrs. Udell made the suggestion to the doctors and Chelsea did indeed have kidney reflux and since had an operation to remedy it.
   The importance of events like the backyard barbecues and the sharing of information is to get the word out about the disorder, Mrs. Udell said.
   The Youngs also held a fund-raiser Thursday not to try and raise funds to be able to keep putting out the mailings, and to buy the equipment necessary to put them out.
   "I'm almost an 11-year veteran at this, and I want you to look me in the eye when I say this," Mrs. Udell said.
   "If you were to ask if I could take Chelsea and make her normal, the answer is no," Mrs. Udell said, her eyes filling with tears.
   "Because then, she would not be Chelsea," she said.
   Last year, the Udells passed through Texas on a trip, they made plans to meet with the Simmons family.
   It was the first time since Stacey was born that either Mrs. Simmons or Stacey met another family who had a child with the disorder.
   "When I saw Chelsea, I just cried and cried," Mrs. Simmons said. "I promised myself I wouldn't do that today."
   Mrs. Simmons said she and Stacey have a special bond.
   "If I ever won the lottery, I'd quit work and visit every family around the country that has a new baby with this and take Stacey, and say, look, everything will be fine," Mrs. Simmons said. 

---

Photo by Dana Smith
Tara Mansell, left, who suffers from a rare genetic disorder and her sister Lori examine crustaceans they pulled from a touch tank at yesterday's gathering for families of children with the disorder. The event brought more than 20 families from around the world to the Dartmouth home of Barbara Young.
  
 Copyright © 1998 The Standard-Times.All rights reserved.

 

STANDARD TIMES

June 21, 1998

FAMILIES LEARN THEY AREN'T ALONE
Rare genetic disorder is the bond

By Bridget McSweeney, Standard-Times staff writer

 DARTMOUTH -- A small picture of 2-year-old Stacey, now 15, sits on her mother's desk as a reminder.
    "A reminder of how cute she was, because I missed it. I was so busy worrying about her, I missed it," said Dianne Simmons.
    Mrs. Simmons described the kind of worry most parents can't imagine.
   Heart and skull operations.
   Being told your child might never walk, or talk, or that she might die with no one being able to explain why.
   Stacey is one of less than 120 children in the country diagnosed with a rare genetic disorder called 9P minus, or monosomy 9P, where part of the ninth chromosome is missing.
   The effects of the disorder can range from mild to severe mental and physical retardation.
   For the Simmons family, and the families of the 27 children gathered in Barbara Young's backyard yesterday, the words they heard following the diagnosis of their children with 9P minus were the same: Your child is the only one.
   The group -- consisting of people from around the country and Canada -- gathered in Ms. Young's backyard, however, proved children who have this rare genetic disorder are certainly not alone.
   But for many families, yesterday was the first time they ever met another family with a child who had the disorder.
   Ms. Young was inspired to put together the barbecue-style event -- complete with fire engine rides and a clown -- after having attended a similar gathering with her 16-year-old daughter, Heather, who has the disorder, in California last year.
   "There is no medical history about these children, nothing in a medical book," Ms. Young said.
   "We had not, until November 1997, ever met another family," Ms. Young said.
   She was so emotionally moved by the experience, she volunteered her house and planned yesterday's event in six months.
   Many of the families at Ms. Young's house knew each other's children through packets including letters and pictures put together by Beverly Udell of Las Vagas, Nev., the co-leader of A Support Group for Monosomy 9P.
   The network was started by John Storr of Ohio, who had a daughter born with the disorder in 1982.
   When he discovered the lack of information about the disorder, he wrote letters to all the genetic hospitals in the country asking them to give his name and phone number to any parents who have a child with the monosomy 9P.
   Mr. Storr also placed an advertisement in a magazine called "Exceptional Parent" and the responses started coming in.
   The geneticist Mr. Storr first brought his daughter to, Dr. Carol Stowe, said if he could ever find enough children with the disorder, she would start researching it.
   Dr. Stowe attended the meeting in California, and was at the Youngs' home yesterday, where she had appointments with each of the children and their families.
   It is through the group, however, that most parents find Dr. Stowe, not the other way around, Mrs. Udell said.
   Her middle child Chelsea, 10, was the 17th child to be placed on the list.
   Mrs. Udell learned about Mr. Storr and the packets of letters and photographs from one of Chelsea's therapists who saw the advertisement in the magazine.
   She has since taken over the mailings, which now include countries around the world as well.
   "He's the brains and I'm the comfort," said Mrs. Udell of Mr. Storr.
   "I'm the one who says to people, congratulations, you have a baby, not a curse," Mrs. Udell said.
   New parents always get all of back issue packets of letters and photographs, Mrs. Udell said, to give all parents all possible information about the disorder.
   While the network of parents isn't a support group in terms of meeting every week -- a logistical impossibility -- the information they are able to share with each other about the disorder has made all the difference for them.
   The moment Mrs. Udell was reading her first packet of letters, Chelsea was in the hospital with unexplained high fevers.
   The very letter Mrs. Udell was reading from another parent said if your child is suffering from unexplained fevers, have the doctors check for kidney reflux.
   Mrs. Udell made the suggestion to the doctors and Chelsea did indeed have kidney reflux and since had an operation to remedy it.
   The importance of events like the backyard barbecues and the sharing of information is to get the word out about the disorder, Mrs. Udell said.
   The Youngs also held a fund-raiser Thursday not to try and raise funds to be able to keep putting out the mailings, and to buy the equipment necessary to put them out.
   "I'm almost an 11-year veteran at this, and I want you to look me in the eye when I say this," Mrs. Udell said.
   "If you were to ask if I could take Chelsea and make her normal, the answer is no," Mrs. Udell said, her eyes filling with tears.
   "Because then, she would not be Chelsea," she said.
   Last year, the Udells passed through Texas on a trip, they made plans to meet with the Simmons family.
   It was the first time since Stacey was born that either Mrs. Simmons or Stacey met another family who had a child with the disorder.
   "When I saw Chelsea, I just cried and cried," Mrs. Simmons said. "I promised myself I wouldn't do that today."
   Mrs. Simmons said she and Stacey have a special bond.
   "If I ever won the lottery, I'd quit work and visit every family around the country that has a new baby with this and take Stacey, and say, look, everything will be fine," Mrs. Simmons said. 

---

Photo by Dana Smith
Tara Mansell, left, who suffers from a rare genetic disorder and her sister Lori examine crustaceans they pulled from a touch tank at yesterday's gathering for families of children with the disorder. The event brought more than 20 families from around the world to the Dartmouth home of Barbara Young.
  
 Copyright © 1998 The Standard-Times.All rights reserved.