"I have a great life," adult with Down syndrome tells doctors

From The Chicago Tribune Sept. 28:

Every few weeks, Angie Picchi, a 28-year-old with Down syndrome, and her mother, Linda, stand up before another group of doctors.

Together, they launch into what they refer to as "The Talk." Part public-relations push, part sensitivity training, the Picchis touch on the stereotypes and low expectations often associated with Down syndrome.

Then they flash pictures on a screen from Angie Picchi's life. Here she is dressed in a sparkling leotard, gliding across the ice at a skating rink. There she is piloting the family boat across a Midwestern lake.

At the end of the presentation, Linda Picchi asks her daughter, "Angie, are you sad you have Down syndrome?"

And Angie Picchi, a chatty young woman who fields questions on such subjects as bullying and boyfriends, replies with a smile: "No, Mom. I have a great life."

Meet Angie Picchi, nicknamed the "Myth Buster," an unofficial spokeswoman for one of the most aggressive campaigns in decades to change the public perception of Down syndrome. The effort, begun locally and nationally last year by advocacy groups, received a boost this month when Alaska Gov. Sarah Palin cradled her son Trig, a 5-month-old with Down syndrome, onstage at the Republican National Convention.

Palin's decision to give birth to a child with the genetic disorder has highlighted the heartbreaking limitations of science. Genetic counseling and screening can help a couple assess the chances they have conceived a child with Down syndrome; tests later in the pregnancy will reveal whether a fetus has the condition. But medicine cannot pinpoint what physical or mental abnormalities the child might have, or how severe the condition might be.

With so many unknowns, families say the decision to have a child with the disorder can feel like a leap of faith. Most women--studies report as many as 70 percent to 90 percent--terminate the pregnancy after learning they are carrying a fetus with the condition.

To be sure, life with Down syndrome can be far from easy. About 40 percent of children with the disorder are born with a heart defect. Many struggle with speech and life skills. Most will require lifelong support, an increasing challenge as parents age.

But many parents and advocacy groups think balance is sometimes lacking in the information couples receive during a diagnosis. Their campaign, they maintain, is not part of a debate about abortion--it is an attempt to tell prospective parents about the potential, not just the problems, of people with Down syndrome.

"None of us have a crystal ball. I can't promise you who your child might become," said Sheila Hebein, director of the National Association for Down Syndrome in Wilmette. Still, she said, "families want people to know that life with a child with Down syndrome is a good life."

Down syndrome is caused by an error in cell division and results in extra genetic material from chromosome 21 in some or all cells. It occurs in about 1 in every 800 live births. Children have a distinctive appearance, including a slightly flattened facial profile and physical and mental disabilities. The condition varies in severity, so developmental problems range from mild to serious.

Advancing maternal age has been identified as a risk factor, and women older than 35 have long been offered screening and diagnostic testing. But last year the American College of Obstetricians and Gynecologists, the national nonprofit medical organization that represents board-certified OBGYNs, recommended that doctors offer screening and--if a higher chance of Down syndrome is found--diagnostic testing to all pregnant women.

After the recommendation, parents and advocacy groups, anticipating an uptick in diagnoses, mobilized. The National Down Syndrome Congress in Atlanta launched a $600,000 awareness campaign. GiGi's Playhouse, a resource center in Hoffman Estates, rolled out a traveling photo exhibit. The National Down Syndrome Society in New York and the National Association for Down Syndrome expanded their programs that send families to talk to doctors.

Last week Congress approved the Prenatally and Postnatally Diagnosed Conditions Awareness Act, which would require medical professionals to provide up-to-date information to parents who receive a diagnosis of Down syndrome or any other condition. President Bush is expected to sign the legislation.

"The push to educate the medical community and prospective parents is at an all-time high," said David Tolleson, director of the National Down Syndrome Congress. "There has never been a better time to be diagnosed with Down syndrome."

He cited increases in life expectancies, opportunities in the workplace and improvements in health care and education.

"But doctors and prospective parents don't always hear the good news," he said.

However, some doctors, including Dr. Jacques Abramowicz, co-director of fetal and neonatal medicine at Rush University Medical Center, caution against providing a picture of the disorder that is "too rosy."

"Whenever something like this is in the media, there is the tendency to make it appear much more beautiful than it is in reality," Abramowicz said.

He says he doesn't tell women what to do, but he stressed that it is a doctor's responsibility to convey the serious health problems that accompany Down syndrome, including higher risks for leukemia, thyroid problems and, later in life, dementia.

"It is extremely difficult to have a baby with Down syndrome," he said.

When Michele Ptaszek, 38, of Naperville gave birth to a baby with Down syndrome six years ago, "the geneticist came into the room and said, 'Your son will never be capable of long division. He'll never drive a car, and he'll never be able to handle abstract thinking,' " Ptaszek recalled.

There were health hurdles, including heart surgery and hypothyroidism. Despite that, Vince Ptaszek, now 6, has entered the 1st grade, where he is in a regular classroom with the help of an aide. When he scores a goal on the soccer field, "he runs to me with the biggest smile and has his arms out wide," Michele Ptaszek said.

Families hope Palin will help raise awareness about the potential of people with Down syndrome.

But Nancy Goodfellow, 34, of Naperville, whose 5-year-old daughter, Lily, has Down syndrome, said, "If education is not done well, it could be harmful."

Goodfellow cringed at media reports that recently called the disorder an "affliction" and the raising of a child an "ordeal."

"I thought, 'Ordeal? My life is not an ordeal,' " she said. "There are more challenges raising a child with Down syndrome, but there are also significant joys."

Parents are writing letters and packing "Celebration" packets--complete with a plush animal--for families who have received recent diagnoses.

Michelle Pusatera of Chicago, who has a 22-month-old with the disorder, summed up the feelings of many: "Sometimes I almost want to scream it. 'These are great kids!' "