Advocacy groups stress joys and potential, but some doctors caution that the prospect can be daunting

From the Chicago Tribune:

Down syndrome advocacy groups have embarked upon “one of the most aggressive campaigns in decades to change the public perception” around the condition.

The effort has been given a boost by the candidacy of Sarah Palin, whose son Trig has Down syndrome, and is particularly timely now that Congress has approved the Prenatally and Postnally Diagnosed Conditions Awareness Act. The bill, passed last week, would provide up-to-date information for parents who receive a diagnosis of Down syndrome or other conditions.

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.

Angie Picchi, 28, (above, with her mother Linda) is nicknamed the “Myth Buster” for her work meeting with groups of doctors and refuting stereotypes and low expectations.

See also: Parents of children with special needs see hope in Palin’s advocacy — Shreveport Times

The House has joined the Senate in passing a measure that disability rights advocates hope will fundamentally change the conversations that are taking place between pregnant American women and their doctors.

Passed on a voice vote on Thursday, the bill would provide for accurate, up-to-date information and support for parents who receive a diagnosis of Down syndrome or other disabilities such as spina bifida or cystic fibrosis either prenatally or up to a year after the birth of their child. President Bush is expected to sign it.

Passage of the measure marks the culmination of an unprecedented bipartisan effort that has joined supporters of abortion rights, led by co-sponsor Sen. Edward M. Kennedy (D-Mass.), with opponents of abortion, led by co-sponsor Sen. Sam Brownback, and disability rights advocacy groups. Kennedy is also a longtime advocate for people with disabilities.

While members of this loose coalition may have profound disagreements about what may be acceptable at the end of a pregnancy, they came together around another key question in prenatal care: What kind of information and support should be available to pregnant women if initial testing reveals the presence of a disability?

The question has become more urgent in recent years as more women are postponing childbearing, putting them at a greater risk of having pregnancies marked by genetic and other abnormalities, and as the offer of prenatal testing has become standard care.

(more…)

From Associated Press, CNN, company press release, Fox News:

Shares of Sequenom Inc., a San Diego biotech company, rose again sharply in premarket trading today after the company announced new results on a prenatal test for Down syndrome that relies on a sample of the mother’s blood.

The company announced yesterday that its SEQureDx test detected Down syndrome accurately in the first and second trimester of pregnancy in about 200 tests with no false positives or false negatives, matching earlier data from another 200 samples.  The company said it hopes to bring the test to market next summer.

Shares jumped $3.39, or 16.5 percent, to $23.95 from $20.56 during premarket training.

Presently available noninvasive prenatal screening methods for Down syndrome can only tell women the statistical risk that their fetus has Down syndrome, but do not offer a conclusive diagnosis of individual pregnancies. Presently, women must undergo amniocentesis or chorionic villus sampling in order to know for sure whether the baby they are carrying has Down syndrome. Amnio and CVS are invasive techniques that both carry a small but significant risk of miscarriage.

Analysts hailed Sequenom’s announcement, with Lazard Capital Markets analyst Sean Lavin raising his price target to $44 per share, up from $34. The company’s stock was trading at around $5 before the announcement of the new technology earlier this year.

The market for prenatal testing is estimated to have multi-billion dollar potential.

See earlier posts here.

See the company’s share price here.

The Senate yesterday approved by unanimous consent a bill designed to provide support to parents and prospective parents who receive a diagnosis of a disability. The measure now goes to the House, as it appears increasingly likely that Congress will extend beyond this Friday’s scheduled adjournment.

Promoted by Sens. Edward M. Kennedy (D-Mass.) and Sam Brownback (R-Kan.), the measure provides that families receiving a prenatal or postnatal diagnosis of Down Syndrome or other conditions would be offered up-to-date information about the nature of the conditions and be connected to support services. It would also set up a registry of parents willing to adopt children with disabilities.

It was among a package of health care bills that went down in July when Senate Republicans blocked them in a partisan power play, and also failed to muster the Senate’s unanimous consent last week when Sen. Brownback brought it up again. The House passed a different version of the bill earlier.

The bill, known as the Prenatally and Postnatally Diagnosed Conditions Awareness Act, represents a rare moment when advocates on opposing sides of the abortion debate join forces.

Sen. Kennedy, a staunch advocate of abortion rights for women, has promoted it as a pro-family measure that would provide needed support to couples who are routinely undergoing prenatal testing as part of obstetrical care. With more women postponing childbearing to later years, more of them are receiving diagnoses of genetic and other abnormalities in their pregnancies.

Sen. Brownback, who passionately opposes abortion, has portrayed the measure as an effort to save the lives of babies with Down syndrome. “To deny children with disabilities a chance at life will make us more insensitive, callous and jaded, and will take away from the diversity of American life,” he said in remarks on the Senate floor last week. “I don’t think this is what we were meant to do.”

Presidential candidate John McCain signed on as a co-sponsor to the bill earlier this month shortly after naming Alaska Gov. Sarah Palin as his running mate. Palin’s son, Trig, has Down syndrome.

See also:

Reid: Senate work far from finished — UPI

Finish line is slipping away for Congress – The Hill

From Scientific American, the New York Times:

Sergey Brin, a co-founder of Google, says he has a genetic mutation that increases his likelihood of getting Parkinson’s disease, a condition which is shared by his mother and her aunt.

Brin discovered the genetic mutation in a test from 23andMe, his wife’s gene-screening company. He estimated his risk of getting the disease at somewhere between 20 percent and 80 percent.

Forbes magazine recently estimated Brin’s personal fortune at $15.9 billion. He said he may help provide more money for research into the disease.

(Photo from Scientific American)

John Krull, writing in the Indianapolis Star, says journalists should ask Sarah Palin whether she and her husband talked about abortion when they got a prenatal diagnosis of Down syndrome. Krull is director of the Pulliam School of Journalism at Franklin College in Franklin, Indiana, and former executive director of the Indiana Civil Liberties Union.

A colleague objects, he says, judging the question to be “too personal.”

Asking Sarah Palin whether she ever considered having an abortion is intensely personal. So is asking Barack Obama about his relationship with his minister and his faith. The same goes for asking John McCain about the collapse of his first marriage or Joe Biden about his grief at the deaths of family members.

But Palin, Obama, McCain and Biden are asking us something intensely personal, too. They’re asking us to trust them

Kevin Myers, writing in the Irish Independent, says he was “revolted” by the sight of the Palins holding Trig on the state of the Republican convention like the “trophy at the end of a World Cup Final.” An excerpt:

It would be bad enough if Trig were just the human blob that all infants are at that age, but, of course, he is more than that: he also has Down syndrome. And was that the semi-subliminal message that we were being given? That not merely is Sarah Palin a fundamentalist Christian, but she is also an anti-abortionist who consciously chose to have what used to be called a Mongoloid baby: and look, here’s his little face to prove it?

.. So this little lad became the first-ever infant to assist its mother to launch her campaign to become the vice-president of the USA. And such are the new taboos which now prevail that anyone who had referred to little Trig as a Mongoloid child would probably have been lynched.

No doubt, that is a good taboo: but, meanwhile, another taboo has apparently vanished. It is the one which protected the very young — never mind the mentally handicapped and physically impaired — from being publicly exploited by their parents for political gain …