October is Down Syndrome Awareness Month. It should be: Down Syndrome is at the center of a critical human-rights issue.
Many recent headlines concerning Down have extolled the “life-saving” advantages of a new blood test, administered in the first trimester of pregnancy, which can determine, with high accuracy, if an unborn child had the syndrome. The test, MaterniT21, will eliminate the miscarriage risk of chorionic villus sampling and amniocentesis, both invasive tests, and is far more reliable than current early blood tests.
But it is not a life-saving discovery for everyone. The fact is: 92% of mothers who discover that their unborn child has Down syndrome choose abortion.
Researchers like Dr. Brian Skotko of Children’s Hospital Boston heard the complaint from thousands of mothers that once a diagnosis is made, it is presumed by the medical staff that the mother will have an abortion. There is not enough effort to inform women about the positive aspects of life with Down syndrome, the support services available or that there is a list of hundreds of families waiting to adopt a child with Down syndrome.
Early screening results like those of MaterniT21 may arrive before the mother has had a chance to bond with her baby, and the thought of having an abortion at eight weeks is less abhorrent to many women than at 18-22 weeks, when the results of amniocentesis are available.
So, abortion rates for babies with Down are likely to increase when the test is available. To make matters worse, prenatal tests soon will be offered free to all expectant women, regardless of age, thanks to regulations requiring preventive care under the Patient Protection and Affordable Care Act — the new health-care reform ushered in by President Obama.
Mark Leach, an attorney and father of a daughter with Down syndrome, writes in The Public Discourse:
The regulation is the result of HHS’ adopting, in its entirety, the Institute of Medicine’s (IOM) report on Clinical Preventive Services for Women. Buried in the IOM report is the recommendation for no-cost well-woman visits; these visits include prenatal care — and thus prenatal testing for “genetic or developmental conditions.”
There are national health-care systems, which, because of such universal prenatal testing, expect that Down syndrome will in this way be eliminated from the population as a cost-saving measure. According to a recent article on the official website for Denmark:
A medical review from 2002 of elective abortions in the U.K. and the U.S. found that around 92% of all fetuses diagnosed with Down syndrome were aborted. In Denmark, medical experts estimate the rate of abortions to be even higher. If the current trend continues, it is predicted that the last Down syndrome baby in Denmark could be born in 2030.
In spite of the threat universal prenatal testing brings to unborn babies with Down, families of those with the syndrome consider them to be a blessing. This is confirmed by a new study by Skotko, who said this on his blog:
“We mailed surveys to families around the country, and 3,150 mothers, fathers, brothers, sisters and people with Down syndrome responded. Here is just a sample of what we found:
• 99% of people with Down syndrome said they were happy with their lives;
• 97% of people with Down syndrome liked who they are;
• 99% of parents said they love their child with Down syndrome;
• 5% of parents felt embarrassed by their child;
• 97% of brothers/sisters, ages 9-11, said they love their sibling.”
Skotko has a sister with Down syndrome and is a specialist in the Down Syndrome Program at Children’s Hospital Boston. The survey results have just been published in the American Journal of Medical Genetics and received significant press.
However positive the reaction, though, it isn’t sufficient to counteract negative attitudes, according to Arthur Caplan, director of the University of Pennsylvania’s College of Bioethics. He doubted that the survey would convince all women to carry their babies with Down syndrome to term because, “many are having smaller families. I do not think they will be willing to accept a child with cognitive and other impairments as might parents of bigger families. Also, they are bombarded with messages of perfection in babies and about parenting from all manner of media, and this shapes their view of disability.”
In order to change these statistics, Caplan said, “one would need to change attitudes overall about disability and perfection in society.” Nevertheless, he asserts, “we will include these studies in student reading” as well as classroom visits from “parents from our world-famous children’s hospital who frequently come to class along with their babies and kids.”
Advances in research and educating the public are bolstered by political activism. U.S. Rep. Cathy McMorris Rodgers, R-Wash., whose son Cole has Down syndrome, formed the Congressional Down Syndrome Caucus and has recently submitted two bills which would dramatically increase research funding to improve the cognitive delays inherent in Down syndrome:
The Trisomy 21 Research Resource Act of 2011 authorizes current efforts already under way by national patient-advocacy organizations, together with the National Institute of Child Health and Human Development, to establish three research databases that will provide the research community with access to information that has been otherwise hard to obtain. The second bill, the Trisomy 21 Centers of Excellence Act of 2011, recognizes six centers of excellence around the nation that will be dedicated to conducting and coordinating translational research.
In concert with Rogers’ effort, the National Institutes of Health has joined with organizations interested in Down syndrome to “form a consortium that will foster the exchange of information on biomedical and biobehavioral research on the chromosomal condition,” according to a recent press release. Researchers will have a clearinghouse for information and patients willing to participate in clinical trials of new medications.
The first clinical trials for medications to improve learning, speech and memory in those with Down syndrome this past year have garnered amazing results, according to the Genetique Press Review. In Barcelona, Mara Dierssen successfully carried out a pre-clinical trial with a molecule derived from green tea on 10 adult patients. She is now preparing a clinical trial on 100 patients. Dr. Alberto Costa conducted a clinical trial with the Alzheimer’s drug memantine, with dramatic cognitive improvements noted by the patients’ parents, as reported in The New York Times Magazine. Dr William Mobley, a noted Down syndrome researcher at the University of California-San Diego, says in the article, “There’s just been an explosion of information. As recently as the year 2000, no drug company would possibly have thought about developing therapies for Down syndrome. I am now in contact with no less than four companies that are pursuing treatments.” According to Mobley, a drug which makes the learning and memory of those with Down syndrome completely normal will be developed within a decade.
Such an accomplishment is a tribute to the legacy of Dr. Jerome Lejeune, the French geneticist who discovered Trisomy 21, the cause of Down syndrome, in 1959. The Jerome Lejeune Foundation has contributed more than $21 million dollars to research initiatives around the world and sponsors meetings where researchers can network and share knowledge.
But a problem haunts advocates of Down syndrome like Costa. “It’s like we’re in a race against the people who are promoting those early-screening methods,” he said in the Times article. “These tests are going to be quite accessible. At that point, one would expect a precipitous drop in the rate of birth of children with Down syndrome. If we’re not quick enough to offer alternatives, this field might collapse.”
Because there will be no more patients with Down syndrome to benefit from his research.
Register correspondent Leticia Velasquez writes from Canterbury, Connecticut.