Down Syndrome Support Groups Rise to Counter Physicians’ Poor Diagnostic Practices

October 15, 2008 - 7:36 PM
Women who discover they are carrying a Down syndrome baby often receive poor, misleading, and discouraging counsel from their doctors, something that has prompted support groups to spring to life across the nation.<br />

Ayla Coe, seven months old. (Photo courtesy of Kadi Coe.)

(CNSNews.com) – Women diagnosed as carrying a Down syndrome baby often receive poor, misleading, and discouraging counsel from their doctors – the most frequent comments being an apology offered with the option of aborting their baby.

That inadequate and incomplete counsel has prompted Down syndrome support groups to spring to life across the nation.
 
“It’s so misleading,” Mia Willson, whose daughter Mylie, 7 months, has Down syndrome, told CNSNews.com. “The truth is, some Down syndrome children are born with medical conditions, but with the advances in technology, most can be easily treated.”
 
Children with Down syndrome, caused by an extra chromosome, have varying degrees of mental retardation and often have heart problems. Since the advent of pre-natal testing in the mid-1970s, the number of babies diagnosed with Down syndrome and then aborted is nine out of ten.  Prior to that time, nearly all such babies were born.

The Willson family, from left, Mia, Mylie, Tyson and Tyler.

Dr. Brian Skotko, a pediatrician at Boston Children’s Hospital, conducted a survey of more than 1,000 women who had a Down syndrome child in 2005, 12.5 percent of which were mothers who had received a pre-natal diagnosis.
 
Those 141 women reported “incomplete, inaccurate or offensive” information about Down syndrome at the time of diagnosis. They also said they weren’t connected to resources that could help them understand their child’s condition.
 
“There is one thing that the mothers spoke very clearly on in my research -- was the connection with other parents made a big difference,” Skotko, who has a sister with Down  syndrome and serves on several boards of Down syndrome advocacy groups, told CNSNews.com.
 
Skotko’s own research and a 2006 survey of 1,105 junior fellows and fellows for the American College of Obstetrics and Gynecologists show that doctors are not trained to share positive information about children with Down syndrome at the time of diagnosis. In the ACOG study, 45 percent of respondents rated their residency training regarding pre-natal diagnosis as “barely adequate” or “non-existence.”
 
“Doctors aren’t necessarily trained or know the answer to, for example, what is it like to raise a child with Down syndrome? Will my child go to prom one day? What affect will this have on my other children and my marriage?” Shotko said.
 
As reported by CNSNews.com in an earlier story, a study of 499 primary care physicians revealed that only 4 percent encouraged their patients to continue their pregnancy.
 
Willson recalls when her daughter was in the intensive care unit for a heart condition diagnosed shortly after birth. The nurse on duty had a son with Down syndrome.
 
“She said, ‘Oh, I’m so excited for you. This child is going to melt your heart,’” Willson recalled. “I couldn’t understand why she was so positive when the doctors had been so solemn and even negative. They said, ‘I’m sorry, I’m so sorry.’ There’s nothing to be sorry about.”
 
These kind of negative experiences have led Wilson and other parents across the country to launch grassroots groups that offer both pre- and post-natal support, and connect parents with the kind of support and resources they need to raise a special needs child.
 
In Willson’s case, she agreed to pre-natal screenings, which did not show an increased risk of having a baby with Down syndrome. So Willson did not opt for diagnostic tests.
 
After Mylie’s birth, Willson and her husband, Tyler, learned their daughter had the genetic condition and some medical complications. Post-natal tests determined she had two holes in her heart and a thyroid condition. She was also extremely sensitive to gluten. But Willson said the holes closed on their own and medication and the proper diet have helped her daughter thrive.
 
Willson, 32, helped start The Real Face of Down Syndrome with JaimieWeitzman, whom she met through programs in place at the California hospital where their children were born that connects parents with other parents who have children with the condition.
 
“I called her and it was so wonderful to talk to someone my age that had a new daughter with Down syndrome,” Willson said.

Since connecting through a support group for parents of Down syndrome, the Willson and Weitzman kids have become friends, from left, Mylie and Tyson Willson and Julie, Sarah and Hannah Weitzman.

“It’s amazing all the negative things people hear,” Weitzman, whose Down syndrome daughter Hannah just turned one, told CNSNews.com. “We’re not experiencing those negative things. Yes, this family has been changed forever, but I mean forever in a positive way.”
 
Willson and Weitzman also were inspired to start their effort after hearing statistics that show as many as nine out of 10 women who are diagnosed pre-natally with carrying a child with Down Syndrome choose to have an abortion.
 
“We were just devastated when we found out how high the percentage was,” Willson said. “We didn’t think it is fair that these children don’t have a chance just because they have an extra chromosome. We wanted to get the message out about these children.”
 
“These children have souls,” Willson said. “They are like any other child.”
 
Willson and Weitzman, 31, have created a brochure with family photographs and the contact information for resources to help parents who have received a Down syndrome diagnosis or have a newborn with the condition. They are putting them, with the help of their pediatrician, in hospitals, doctors’ offices and other places where “children of child-bearing age” might pick one up.

Lucy Talbot is the president of Families Exploring Down Syndrome, a non-profit organization founded in 1989 “by a group of parents who felt the need to share a common bond with families in the area who were experiencing the same feelings, heartaches, and joys.”

The organization has adopted and implemented the National Down Syndrome Society’s Changing Lives program, which puts parent volunteers and their children with Down syndrome into medical settings to demonstrate to health professionals the true nature of these children and the importance of giving pre- or post-natally diagnosed parents complete and accurate information.

Today, the Michigan-based organization has more than 200 active family members, including Talbot, who adopted her daughter Megan, who has Down syndrome, after a doctor told Megan’s birth parents that they didn’t have to raise the child.

 “Instead of giving (the parents) hope or connecting them with someone who knows about Down syndrome,” Talbot said, the doctor said to give the child away. Megan ended up with Talbot as a foster child and was eventually adopted.

Talbot’s organization also supports new parents of Down syndrome children by providing them with “new parent packages,” which includes resources, information and lots of photos.

“They need to see these children,” says Talbot, whose daughter Megan, now 19, is graduating from high school, has a part-time job at Macy’s and went to the prom with a good friend.

Willson and Weitzman agree that including photographs on their brochure was essential.

“We want people to see that we are still a family, we are happy,” Willson said.
“We are a joyful family,” Weitzman said.

That’s also true for Kadi Coe, who knew before her daughter Ayla, now 10 months, was born that she had Down syndrome. Coe, 30, was screened for the genetic disorder, which showed she was at high risk for having a child with Down syndrome. Diagnostic tests confirmed that fact. 
“I was devastated,” Coe told CNSNews.com. “It was something that I’d never even thought of. You don’t think something like this will happen to you. I thought my world had ended.”

Coe admits, even though she and her husband consider themselves pro-life, that they thought about abortion.

“I heavily thought about terminating,” Coe said. “It was an agonizing decision, but I thought I would grieve for her for the rest of my life.”

Coe was also helped by Amanda Clarke, who also was pre-natally diagnosed with carrying a child with Down syndrome and had joined Families Exploring Down Syndrome.

“It was amazing,” Coe said of talking with Amanda. “I thought, ‘Oh my gosh, you understand how I’m feeling.’ (The support group) was the only thing that kept me going.”

And even if Coe describes the day Ayla was born as “the scariest thing in my life,” that fear quickly changed to joy when she saw her daughter for the first time.

“My worries washed away,” Coe said. “I can’t imagine my life without her.”

Coe, who has an older daughter, added that she is grateful on a daily basis that she didn’t choose abortion.

“Not a day goes by that I’m glad I didn’t do that to her,” Coe said. “I still cry thinking that I almost did that.”

For Weitzman, having a child with Down syndrome proved almost prophetic.

As a sixth-grader, Weitzman said she was drawn to volunteer in the classroom where children with Down syndrome were taught at her school. Her mother also worked as a volunteer with Down syndrome children.

“I always had this sense that I knew I would have a child with Down syndrome,” Weitzman, who has two other daughters, said. “I feel like the Lord was preparing me.”
She said she declined to have any of the pre-natal tests offered by her doctor during both pregnancies.

And now that Hannah has celebrated her first birthday, Weitzman says not only has her birth brought the family closer together, but she said her older girls will also be blessed by their special sibling.

“I think they will learn to love in a broader way,” Weitzman said. “I think they will grow up to be better people.”

Resources:
National Down Syndrome Society, www.ndss.org, (800) 221-4602.
Association for Children with Down Syndrome, www.acds.org, (516) 933-4700
The Real Faces of Down Syndrome, miaximena@yahoo.com,
Families Exploring Down Syndrome, www.familiesexploringdownsyndrome.org, (586) 997-7607