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Entries in Down Syndrome (7)

Friday
Sep142012

Actors with Down Syndrome Raise Awareness

Pictured from left to right: Lauren Potter, Jordyn Orr, Gail Williamson and Robin Trocki. (Gail Williamson)(NEW YORK) -- When Gail Williamson was pregnant with her son Blair in 1979, there was no one on TV with Down syndrome to help make the diagnosis less scary.

Today, doctors tell parents that their babies will grow up and be like "Becky," a character on Glee who has Down syndrome -- and quite a bit of sass as she rocks a cheerleading uniform at the fictional William McKinley High School.

"It changes it for parents," said Williamson, the woman who connected Glee with Lauren Potter, the actress who plays Becky; Robin Trocki, the actress who played Sue Sylvester's big sister, Jean; and Jordyn Orr, the baby who made her Glee debut as Sue's daughter Thursday night.  They all have Down syndrome.

And the ladies of Glee are not alone, said Willliamson, who now runs Down Syndrome in Arts and Media after spending 12 years at the California Governor's Committee on Employment of People with Disabilities.  Actors with Down syndrome will also be on Shameless, American Horror Story, Blue Bloods, Legit and The New Normal this year, changing the public's perception of the syndrome one viewer at a time.

Down syndrome hasn't been this prevalent in entertainment since Chris Burke played Corky Thatcher on ABC's Life Goes On from 1989 through 1993, Williamson said, adding that she remembers how life changed for Blair after it debuted.

"Waiters would turn to him and say, 'What would you like to eat?'" she said, adding that they'd previously asked her what he wanted instead.  "People didn't realize they could talk to that face … I saw a change.  I saw the difference.  And I saw it again after Glee."

Potter, 22, was a baby when Life Goes On was on television, so she said she never had a television role model who had Down syndrome.  But now, people will run across parking lots and line up for her autograph.

"I just felt like I wanted to cry," Potter said.  "They were saying that I was their inspiration.  These fans are really my heroes."

Her mom, Robin Sinkhorn, said the best thing is when college and high school students aren't afraid to say hello, and tell Potter that she inspired them to learn more about Down syndrome.  Potter is now part of an anti-bullying campaign and is on President Obama's Committee for People with Intellectual Disabilities.

"It's pretty amazing what this kid has done, and this gift that Glee and the producers of Glee have given her," Sinkhorn said.  "She's reached out to a lot of people."

Copyright 2012 ABC News Radio

Sunday
Mar112012

Parents Get $2.9M in Down Syndrome Girl ‘Wrongful Birth’ Suit

Photodisc/Thinkstock(PORTLAND, Ore.) -- The parents of a four-year-old Oregon girl with Down syndrome were awarded $2.9 million after doctors misdiagnosed their daughter as not having the condition during a prenatal screening.

Ariel and Deborah Levy of Portland, Ore., filed a “wrongful birth” lawsuit against Legacy Health System, claiming that they would have terminated the pregnancy had they known they would have a special-needs child.

The Levys said the doctors were “negligent in their performance, analysis and reporting” of test results after their child was born as well.

“It’s been difficult for them,” said David K. Miller, the Levy’s lawyer, according to ABC News affiliate KATU. “There’s been a lot of misinformation out there.

“These are parents who love this little girl very, very much,” Miller said. “Their mission since the beginning was to provide for her and that’s what this is all about.”

The $2.9 million will cover the estimated extra lifetime costs of caring for someone with Down syndrome.

After the decision was announced, Legacy Health issued a statement that read, “While Legacy Health has great respect for the judicial process, we are disappointed in today’s verdict. The legal team from Legacy Health will be reviewing the record and considering available options. Given this, we believe that further comment at this point would not be appropriate.”

It’s unclear what type of genetic testing the couple underwent. Genetic counselors say there are different types of screening options, including amniocentesis, chorionic villus sampling, and an ultrasound combined with blood testing.

A blood test with an ultrasound will only predict the risk of developing Down syndrome or other genetic abnormalities, said Virginia Carver, a prenatal genetic counselor at the University of Miami’s Miller School of Medicine.

Amniocentesis will determine whether or not a child has Down syndrome and is considered the “gold standard” of testing, Carver said. That test is typically about 99 percent accurate.

“But even the most accurate test isn’t 100 percent accurate,” she said. “There is a small percentage of chance that the testing might not be correct because of human error.”

Copyright 2012 ABC News Radio

Friday
Mar022012

Parents Sue Hospital for Child's Misdiagnosis

Pixland/Getty Images(PORTLAND, Ore.)  -- The parents of a 4-year-old Oregon girl with Down syndrome are suing Legacy Health in Portland because they say doctors misdiagnosed their daughter as not having the condition during a prenatal screening.

As a result of doctors’ reassurances, according to a local station, the parents decided to continue the pregnancy.  They are suing for $7 million; an amount they say will pay for the girl’s care for life.

Court documents were not immediately available, so it’s unclear what type of genetic testing the couple underwent.  Genetic counselors say there are different types of screening options, including amniocentesis, chorionic villus sampling, and an ultrasound combined with blood testing.

A blood test with an ultrasound will only predict the risk of developing Down syndrome or other genetic abnormalities, said Virginia Carver, a prenatal genetic counselor at the University of Miami’s Miller School of Medicine.

Amniocentesis will determine whether or not a child has Down syndrome and is considered the “gold standard” of testing, Carver said.  That test is typically about 99 percent accurate.

“But even the most accurate test isn’t 100 percent accurate,” she said.  “There is a small percentage of chance that the testing might not be correct because of human error.”

Neither the hospital nor the couple would comment on the case, which is now being heard in a Multnomah County court.

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Copyright 2012 ABC News Radio

Tuesday
Feb212012

Down Syndrome Basketball Player Inspires Tennessee Team

ABC News(MEMPHIS, Tenn.) -- David Andrews plays for his freshman basketball team at Germantown High School outside of Memphis.

He wears the number 40. He leads the pregame chant. He swishes threes. And he has Down syndrome.

When Andrews’ mother, Maureen, asked coach Wes Crump if her son could be part of the team that his brother was already on, the coach immediately agreed. But she never expected to see her son practice, let alone play.

“Maureen wasn’t asking for anything other than David maybe getting a sweatsuit, team shoes, and for him to be on the bench with the team,” Crump told ABC News.

What Crump and the team soon realized was Andrews, 18, was going to have a bigger impact than anyone could have imagined. Andrews started participating in practice and during the team’s fourth game he took to the court to chants from the crowd of “We want David! We want David!”

“During the first offensive play, David ran down the left side of the floor into the deep corner. Our point guard passed David the ball, and without hesitating, he shot. Swish!” Crump wrote. “From that game on, it seemed our team had a new goal of getting so far ahead of the other team, that David would have an opportunity to play some minutes.”

Fortunately for Andrews, the Red Devil’s were more than pretty good. They lost only one game all season and he was able to play quite a bit.

Crump said Andrews has put the game into perspective for him. One time after he received a technical foul going into halftime, Andrews’ antics during warmups prior to the second half lifted his mood.

Andrews was hitting shot after shot from the top of the key and the crowd took notice.

“The CBHS parents were applauding his every basket,” Crump told ABC News. “David turned to the stands every time they applauded and flexed for them. As I watched that exchange, I realized just how little the game meant, and how much David means to me and to the people who get to be around him. It completely changed my attitude. I sat there and just smiled.”

Copyright 2012 ABC News Radio

Tuesday
Oct182011

Safer Down Syndrome Test Hits Market Monday

Comstock/Thinkstock(SAN DIEGO) -- Starting Monday, moms-to-be can opt for a safer prenatal test for Down syndrome -- a genetic condition marked by mental retardation and early death that affects one in 691 babies.

MaterniT21, developed by San Diego-based biotech company Sequenom, can detect fetal DNA in the mother’s blood as early as 10 weeks into the pregnancy. That DNA reveals whether the fetus has the extra copy of chromosome 21 that causes Down syndrome.

Current prenatal tests, which require a sample of either amniotic fluid or placenta, are more invasive and carry a small risk of fetal injury or miscarriage.

“We believe that the MaterniT21 [test] will provide physicians and their patients with critical new information to help them make better informed decisions about the patients’ healthcare and pregnancies,” Sequenom CEO Harry Hixson Jr. said in a statement.

In a Sequenom-sponsored study, MaterniT21 spotted 209 of 212 Down syndrome cases -- a feat researchers say would save lives.

“This method can substantially reduce the need for invasive diagnostic procedures and attendant procedure-related fetal losses,” the study authors wrote in a report published Monday in the journal Genetics in Medicine.

But some experts worry the safer test could lead to more screening and more terminated pregnancies.

“The number of American women who will have to grapple with this information prenatally will substantially increase,” Dr. Brian G. Skotko of the Down syndrome program at Children’s Hospital Boston told The New York Times.

While MaterniT21 correctly identified 98.6 percent of Down syndrome cases, it incorrectly identified three of 1,471 normal fetuses as having the disorder, earning it a false positive rate of 0.2 percent. The existing tests -- amniocentesis and chorionic villus sampling -- have a false positive rate of up to five percent.

The risk of Down syndrome increases with maternal age, rising from one in 1,250 for a 25-year-old to roughly one in 100 for a 40-year-old. Sequenom said it developed the test for the estimated 750,000 high-risk pregnancies in the U.S. each year.

Like similar tests used to determine unborn babies’ sex or paternity, MaterniT21 has not been approved by the U.S. Food and Drug Administration.

Copyright 2011 ABC News Radio

Wednesday
Jan122011

New Down Syndrome Test Could Cut Healthy Baby Deaths

Photo Courtesy - Getty Images(HONG KONG) -- Pre-natal screening for Down syndrome, which affects one in every 800 pregnancies, is fraught with unclear test results, risks to the unborn baby and profound anxiety for expectant mothers and their partners.

But now, a new maternal blood test has the potential to reduce the number of women referred for invasive testing for Down syndrome by 98 percent.

A study, led by researchers at Li Ka Shing Institute of Health Sciences at The Chinese University of Hong Kong (CUHK) and published this week in the Journal of British Medicine looked at the new technology, which uses the latest tools in gene sequencing to detect abnormalities in the fetus.

The technology was developed in 2008, but this is the first large-scale study, including more than 750 blood samples from pregnant women in Hong Kong, Britain and the Netherlands -- 86 from those who were carrying a child with Down syndrome.

The most robust version of the new blood test tested on 314 pregnancies detected Down syndrome in 100 percent of the cases, with only a 2.1 percent false positive rate.

"Over the years, several versions of the test have been developed, but this test is one of the most promising in terms of diagnostic performance," said Dr. Rossa Chiu, first author of the study and a clinical chemist at CUHK.

"The availability of the safe DNA blood test could therefore greatly reduce the number of pregnant couples having to bear the emotional burden of going through a potentially risky and daunting procedure, like amniocentesis," Chiu added.

Copyright 2011 ABC News Radio

Wednesday
Oct132010

Down Sydrome Adults, Living Longer, Marry

Photo Courtesy - HBO/Time Warner(NEW YORK) -- When Monica and David were born in the 1970s, children with Down syndrome  had a life expectancy of under 25. Many parents were told by well-meaning doctors that their children would never walk, talk or lead meaningful lives.

Their generation defied those predictions, and now this Miami couple, both in their 30s and expected to live well beyond their 60s, has shattered misconceptions about the lives of those who are intellectually disabled.

Monica and David are married and share all its love and intimacies.

Their journey to independence with parental support is chronicled in Monica & David, which won Best Documentary Feature at the 2010 Tribeca Film Festival, and premieres October 14 on HBO.

"It gives viewers an unprecedented chance to get to know people with Down syndrome better," said Nancy Abraham, senior vice president of HBO documentary films. "It's relatable and really eye-opening."

Because the couple addresses having children, the film also is "definitely a catalyst for discussion," she said.

The film is the first by director and producer Alexandra Codina, 32, whose universal love story grew out of her close relationship with her cousin Monica, 38.

In intimate footage and personal interviews, she explores the challenges the family faces, trying to give the couple independence but, at the same time, shield them from a world that might reject them.

More than 400,000 Americans are living with Down syndrome -- born with three, rather than two, copies of the 21st chromosome, according to the National Down Syndrome Society (NDSS).

Their cognitive abilities are varied -- some are profoundly incapacitated while others are very high-functioning -- but their need for love, affection and acceptance is as ordinary as all adults.

They have an increased risk for heart defects, respiratory and hearing problems, Alzheimer's disease, childhood leukemia and thyroid conditions. But because many of these conditions are now treatable, most now lead healthy lives.

And now, with more social acceptance, a small, but growing number of those adults are taking marriage vows.

"One of the biggest misconceptions is they are angelic, always happy," said Codina. "But loneliness is very typical and a difficult experience for a lot of adults with disabilities. Even if the mainstream environment is still fighting against the stigma, they have to work harder to live an ordinary life."

Monica and David live in a separate apartment under the close supervision of her mother, Maria Elena, and stepfather, Bob, who try to respect their privacy while helping to structure their daily lives.

But even those close to the couple struggle to view them as fully actualized adults.

"Monica and David's love and their desire for an adult life is very real," she said. "Like all issues relating to adults with intellectual disabilities -- dating, marriage, housing, employment, education, the future, and parents' roles -- there is no clear line. Monica and David are adults capable beyond traditional expectations, but they can also be childlike and need assistance."

Copyright 2010 ABC News Radio







ABC News Radio