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Merrimack Valley

Out of the darkness: Bill would help parents cope with child's Down syndrome diagnosis

New bill would help parents cope with Down syndrome diagnosis

By Terry Date
tdate@eagletribune.com
Published: December 7, 2008

Minutes after Sharon Randall gave birth to her son Davis, she said she felt like she had fallen into "instant total darkness."

That's when a doctor told her Davis had Down syndrome, matter-of-factly, with no other information.

"We didn't leave with negative information — we left with none," said Randall, 45, of North Andover.

What she was left with was a list of unanswered questions.

"Will my child have friends? Will he hold a job? Will he go to the prom?"

For years, it was all too common for doctors to give parents a bleak description along with the diagnosis. But Randall and others hope that in the future, parents who give birth to a child with Down syndrome can be spared some of this isolation and confusion.

That's the goal of the Prenatally and Postnatally Diagnosed Conditions Awareness Act, also known as the Kennedy-Brownback bill. The law authorizes federal funds to train doctors to deliver a Down syndrome diagnosis with up-to-date information on child development and life expectancy.

If funded in this spring's federal budget at the recommended $25 million over five years, the bill would also set up referral networks, putting parents who receive a Down syndrome diagnosis in touch with parents like Danielle Perry of North Andover, whose 6-year-old son, Zane, has Down syndrome.

Perry, 37, a member of the Massachusetts Down Syndrome Congress advocacy group, would invite the couple to meet Zane. She would tell them to expect that their child will have more in common with other children than they might think.

"This kid is going to be much more like a regular kid than not," Perry said. "We tend to focus on what they can't do or won't do, rather than what they can do or will do."

Stressing the positive

Down syndrome is a chromosomal birth condition that occurs in about 1 in every 800 births. The rate rises considerably in older mothers, to 1 in 400 for a woman 35 years old, and 1 in a 100 for a woman 40 years old, according to the March of Dimes. This is even more critical in today's environment, when more women are having children from their mid-30s on.

Right now, the only definitive prenatal test for Down syndrome requires withdrawing amniotic fluid, a procedure that slightly increases the risk of miscarriage. So most pregnant women choose not to have the test unless screening points to an increased likelihood of Down syndrome. A new blood test that involves no risk to the mother or fetus is being developed and is expected to be available as early as next summer.

The Kennedy-Brownback bill — aimed at providing information and support for parents of children diagnosed with Down syndrome — was largely the result of research and congressional testimony by Dr. Brian Skotko of Children's Hospital Boston. Skotko's sister, Kristin, has Down syndrome.

In 2005, Skotko published results from a study in which he surveyed more than 1,000 mothers, most of whom received their child's Down syndrome diagnosis after giving birth.

The central question was about how medical support could be improved for mothers who received a Down syndrome diagnosis for their children.

The women came from five states, including Massachusetts. Regardless of the region, they reported feeling frightened or anxious after receiving the diagnosis, and also feeling shocked, angry and depressed.

About half of the women said doctors talked about or emphasized negative aspects: that almost 50 percent of children with Down syndrome will need heart surgery; that they will need to see a specialist for their condition; and that they will need speech or physical therapy.

But that's far from the whole story, Skotko said. Today, surgery, treatment and therapy are readily available and often successful. And a recent study showed life expectancy for people with Down syndrome doubled between 1983 and 1997, going from 25 to about 50 years old.

Also, children diagnosed with Down syndrome are routinely mainstreamed in public schools, Skotko said. And they are scoring higher on standardized tests. Many of them even work and live on their own.

"So, just like you and I have a whole range of talent, so do people with Down syndrome," he said.

Parents of children with Down syndrome not only want doctors to give parents more positive information, but also to deliver the diagnosis privately and to both parents.

Information is critical

Parents who have been there say the first 48 hours are crucial. Mothers need access to accurate information.

Charlotte Gray, 38, of Haverhill found out the diagnosis 19 weeks into her pregnancy through a call to her workplace, said her husband, Bill Gray, 38.

"I will always remember the call from my wife afterwards — that sinking feeling," he said.

Later, the couple was introduced, through a friend of a friend, to a family with a child who had Down syndrome. The Grays visited them and learned about the condition.

Charlotte went on to give birth to Jacob, who is now 5 years old and also has autism. Jacob is the couple's joy, and he draws love and joy out of other people, even strangers, his parents said.

Loida Dominguez, 28, of Lawrence, mother of 3-year-old Nicholis Cordon, learned about her child's diagnosis after giving birth.

Unlike some moms, Dominguez said she didn't feel devastated by the news.

"I felt really blessed, spiritually blessed," she said.

The hospital supported her emotionally and gave her information about Down syndrome.

These days, she draws emotional support and information from the play and parental support group Morning Travelers, which meets monthly in North Andover and serves people from throughout Massachusetts and Southern New Hampshire.

Randall and her son Davis also belong to the group.

And though Randall felt lost and alone on that day almost six years ago when she learned of her son's diagnosis, she has opened her eyes and heart since then.

"My life would be empty without him," she said recently.

The 5-year-old is a social butterfly who is prone to song, dance and knock-knock jokes.

"He's fun, He's sweet. He's caring," Randall said. "He'll just sweep his hand under my chin and say, 'You princess, Mommy.'"

For information on Massachusetts Down syndrome support groups, visit the Massachusetts Down Syndrome Congress Web site www.mdsc.org. For information about New Hampshire Down syndrome support groups, go to the Northern New England Down Syndrome Congress Web site www.nnedsc.org

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