Tuesday, January 26, 2010

Texas researchers study how parents adjust to Down syndrome diagnosis

From the Lubbock Avalanche-Journal:

When Nicole Springer received the prenatal test results, she knew that if her baby girl lived at all, she would be born with Down syndrome.

Katarina Faith Springer was born in May 2008.

When Briana Nelson Goff opted out of the same test for religious reasons, the 36-year-old knew there was a risk her child would be born with the disorder.

Dalton Goff was born in February 2007.

Both Springer - director of Texas Tech's Family Therapy Clinic, and Nelson Goff, a Kansas State University researcher - said if they could do it over, they wouldn't change a thing.

"I can't imagine what my life would have been like if I'd chosen to terminate - if I didn't see that smile," Springer said of her daughter.

The two researchers - both of whom graduated with doctorates in Marriage and Family Therapy from Texas Tech - are now conducting research to help parents adjust to a child's Down syndrome diagnosis.

"I knew when I got the diagnosis it would take my career in a direction that was centered around special needs or Down syndrome," Springer said.

Down syndrome, also called trisomy 21, is a genetic disorder first reported in 1866 by J. Langdon Down, a British physician.

Springer and Nelson Goff are asking parents of children with Down syndrome to complete an online survey. They hope to use the information to create a series of books for parents and caregivers, Springer said.

While current resources focus primarily on health complications, occupational therapy or physical therapy, Springer said the books she and Nelson Goff have in mind will expand existing resources to include positive views of parenting children with the disorder.

"We want to know more about the people who are walking this journey and doing it successfully," Springer said. "We're asking, 'what's going on in the marriage?', 'what is their view of the world?', and 'what is their satisfaction with life?'."

Springer hopes the information will offer families who are struggling with the diagnosis a source of hope.

It's a resource that wasn't available nearly four decades ago, when Gary and Cynthia Coon's son Matthew (pictured) was born with Down syndrome.

"Back then you didn't see Down syndrome babies," Cynthia Coon said. "A lot went into state schools - I think people had the idea they were more trouble and more limited than they are."

With the help of a supportive pediatrician and the information they gathered, the Coons learned how to parent Matthew. But there was little public awareness, they said.

"People are more educated now; there is more information for parents and there are national organizations," Cynthia Coon said. "They were just seeds starting out when Matthew was born."

Matthew, now 38, went to school, graduated from Monterey High and has worked most of his adult life. He has never been a burden, his parents said.

"Matthew is a fun guy - he's easy-going, very reserved and well-behaved," his father Gary said. "That's not something we did; it's just his nature."

Matthew was a positive influence on his younger siblings, the couple said.

"His younger brother is a really big guy, but he is a very sensitive person," Gary Coon said. "I think a lot of that has to do with growing up with Matthew."

Presenting experiences of families like the Coons will help counter the often burdensome portrayal of living with a Down syndrome child, the researchers hope.

"The focus is often doom and gloom, but that's often not true," Springer said.

The termination rate for prenatal diagnosis of Down syndrome is around 90 percent, a number Springer believes is related to the biased way the news is often delivered to families.

"There can be severe health issues, and I don't want to discount the reality of that fear," Springer said, adding "but there is a big range, from mild-to-moderate to very severe."

Down syndrome is the most common genetic cause of severe learning disabilities in children, occurring in one in every 700 to 800 infants, according to the Mayo Clinic's Web site. The genetic disorder causes lifelong mental retardation, developmental delays and other problems, the site reports.

Even with the knowledge Katarina would not be "chromosomally normal," Springer knew she would keep her daughter. She and her husband suffered several miscarriages between the birth of son Travis and Katarina.

"Part of it was the spiritual element of God's presence and my daughter's spirit," she said of her pregnancy. "Only a mom can really know that. She probably gave me the peace I needed most."

Nelson Goff said testing would not have changed her journey.

While other books have shared first-person accounts of decisions to keep and care for children with Down syndrome, none are supported by research, Springer said.

"We'll take real-life accounts and analyze them thematically," she said. "That way we can give the full picture."

As well as information about prenatal diagnoses, medical issues, schooling and personal interactions, Nelson Goff hopes the study will "be a resource that will give (parents) hope."

"(We want them) to hear in the words of other parents what their experiences were like, and to know there is hope," Nelson Goff said. "While there are challenges, it is truly an amazing blessing and gift - these are words repeatedly used by the parents in our study."

The researchers are still accepting survey participants, they said.

"Probably the most surprising result so far is the number of people who still report really negative experiences with medical professionals as they face the news about their child," Nelson Goff said. "Many medical professionals (are still) emphasizing abortion is their only option during prenatal testing."

But Springer, who said Katarina - 19 months and doing well - has completed their family, said many people who learn the diagnosis prenatally have few places to hear the positives.

"Yes, there are concerns, but the initial fear is dependent largely on how the diagnosis is given and the unbiased description of what Down syndrome means," Springer said. "It could also be the best part of your life."