Parents raising kids with Down syndrome call for more support from doctors

She sometimes wears big pink eyeglasses, and her tongue tends to stick out.

But two-and-a half-year old Caitlyn is beautiful by any measure, and very much loved.

True, her mother wishes she'd known more about Down syndrome when she was pregnant.

But more than that, she wishes the doctor who made that diagnosis hadn't been so quick to advise her to terminate the pregnancy.

"The first thing out of his mouth was, your baby is retarded," said Crystal Skelton. "And then proceeded to tell us that she would never walk, that she would be in a wheelchair the rest of her life. That her brain was underdeveloped.

"Then proceeded to tell us that he highly recommended that we terminate our pregnancy."

Skelton said she was frightened, back then, about what the future might hold for her daughter. But she never for a moment considered an abortion.

The College of Physicians and Surgeons of Alberta said in a statement it gives guidance to doctors under its code of ethics, so they can provide patients with the best advice to make informed decisions. But the college offers no specific guidelines about Down syndrome pregnancies.

Skelton said the doctor, beyond his gloomy prognosis, gave her little information.

"I felt like he was trying to force us," she said. "Because there were only two weeks left (before she could decide to end the pregnancy)."

Medical studies in the U.S. show that the majority of parents choose to terminate the pregnancy after a Down syndrome diagnosis. About half the children with Down syndrome are born with some type of heart defect.

The heart problems can be life-threatening and may, as in Caitlyn's case, require surgery in early infancy. Children with Down syndrome also have an increased risk of leukemia and are much more at risk of contracting infectious diseases, such as pneumonia.

Ambere Rosborough, executive director of the Edmonton Down Syndrome Society, said many doctors still need more education about the condition.

"I think our health-care practitioners need to show a balanced approach," she said. "Sharing materials and stories about individuals who've had successful, positive life experiences, and not just the negative about the medical conditions that individuals might face."

Rosborough said people with Down syndrome have intellectual disabilities, but that doesn't stop them from leading rich and full lives.

"And I think that's maybe something that's not mentioned at the hospital level," she said.

Doctors need to understand that with intervention and community support, she said, children like Caitlyn can have much brighter futures than many people might think.

"They'll have jobs, they'll have relationships, they'll have marriages," Rosborough said. "They'll certainly be contributing members of society."

When Anna-Marie Glenn's ultrasound revealed the baby she was carrying would likely be born with Down syndrome, she was referred to a genetic counsellor.

She said she and her husband made it clear from the start they did not want to end the pregnancy.

"But before we left … the geneticist repeated that under the legislation we only had so much time to decide if we wanted to terminate this pregnancy. And I was taken aback by that a bit, because we had said that we wouldn't consider termination. We had already decided that ... this baby was very wanted."

Glenn said she was never told her child could have "a fairly typical" and normal life.

"That he would learn to read and write, and go on to go to school, and eventually have a job and contribute to society.

"Overall, our little guy is more like his brothers and sisters than he is not. He is doing all of the typical baby things - he's rolling over, he smiles, he laughs, he gets into stuff. And really, that he has an extra chromosome doesn't even come into play in our lives."

Melanie Lewis, medical director of the Edmonton Down syndrome clinic, hears similar stories in her own practice.

"I think the problem is that there's an outdated stereotype of Down syndrome. Over the last 30 years, as children with Down syndrome have been included in the school system and in community activities, the potential for children and adults with Down syndrome has changed dramatically."

Life spans have increased dramatically for people with Down syndrome. In 1910, a baby born with the syndrome often didn't live to age 10. Today, someone with Down syndrome can expect to live to age 60 and beyond, depending on the severity of health problems, health experts say.

Part of the Edmonton clinic's mandate is educational, to share updated information with other doctors and the wider health-care community.

Three years after she made her decision, Skelton said her daughter is a happy little girl bringing joy to everyone around her.

"She's doing amazing. She's walking, running, she's starting to talk. She just does everything in her own time.

"She touches everyone's life that she meets."

Caitlyn has three older brothers, and they've learned a lot from her already, Skelton said.

"It's really taught them about love, and care, and not to judge."