An article on Downs Syndrome, and testing
May. 13th, 2007 01:06 am![[personal profile]](https://www.dreamwidth.org/img/silk/identity/user.png){kind=small}
conuly
By the much-beloved Amy Harmon
It comes with a video.
With two videos.
Prenatal Test Puts Down Syndrome in Hard Focus
By AMY HARMON
DETROIT — Sarah Itoh, a self-described “almost-eleven-and-a-half,” betrayed no trace of nervousness as she told a roomful of genetic counselors and obstetricians about herself one recent afternoon.
She likes to read, she said. Math used to be hard, but it is getting easier. She plays clarinet in her school band. She is a junior girl scout and an aunt, and she likes to organize, so her room is very clean. Last year, she won three medals in the Special Olympics.
“I am so lucky I get to do so many things,” she concluded. “I just want you to know, even though I have Down syndrome, it is O.K.”
Sarah’s appearance at Henry Ford Hospital here is part of an unusual campaign being undertaken by parents of children with Down syndrome who worry about their future in the face of broader prenatal testing that could sharply reduce the number of those born with the genetic condition.
Until this year, only pregnant women 35 and older were routinely tested to see if their fetuses had the extra chromosome that causes Down syndrome. As a result many couples were given the diagnosis only at birth. But under a new recommendation from the American College of Obstetricians and Gynecologists, doctors have begun to offer a new, safer screening procedure to all pregnant women, regardless of age.
About 90 percent of pregnant women who are given a Down syndrome diagnosis have chosen to have an abortion.
Convinced that more couples would choose to continue their pregnancies if they better appreciated what it meant to raise a child with Down syndrome, a growing group of parents is seeking to insert their own positive perspectives into a decision often dominated by daunting medical statistics and doctors who feel obligated to describe the difficulties of life with a disabled child.
They are pressing obstetricians to send them couples who have been given a prenatal diagnosis and inviting prospective parents into their homes to meet their children. In Massachusetts, for example, volunteers in a “first call” network linking veteran parents to new ones are now offering support to couples deciding whether to continue a pregnancy.
The parent evangelists are driven by a deep-seated fear for their children’s well-being in a world where there are fewer people like them. But as prenatal tests become available for a range of other perceived genetic imperfections, they may also be heralding a broader cultural skirmish over where to draw the line between preventing disability and accepting human diversity.
“We want people who make this decision to know our kids,” said Lucy Talbot, the president of a support group here who prevailed on the hospital to give Sarah and two teenage friends an audience. “We want them to talk to us.”
The focus on the unborn is new for most parent advocates, who have traditionally directed their energy toward support for the born. But after broader testing was recommended in January, the subject began to hijack agendas at local support group meetings.
A dwindling Down syndrome population, which now stands at about 350,000, could mean less institutional support and reduced funds for medical research. It could also mean a lonelier world for those who remain.
“The impact of these changes on the Down syndrome community is going to be huge,” said Dani Archer, a mother in Omaha who has set aside other Down syndrome volunteer work to strategize about how to reach prospective parents.
The 5,500 children born with Down syndrome each year in the United States suffer from mild to moderate mental retardation, are at high risk for congenital heart defects and a variety of other medical problems, and have an average life expectancy of 49. As adults, some hold jobs, but many have difficulty living independently.
“There are many couples who do not want to have a baby with Down syndrome,” said Deborah A. Driscoll, chief of the obstetrics department at the University of Pennsylvania and a lead author of the new recommendation from the obstetricians’ group. “They don’t have the resources, don’t have the emotional stamina, don’t have the family support. We are recommending this testing be offered so that parents have a choice.”
But the richness of their children’s lives, parent advocates say, is poorly understood. Early medical intervention and new expertise in infant heart surgery stave off many health problems; legally mandated inclusion in public schools has created opportunities for friendship and fostered broader social awareness of the condition.
With no formal financing or organization, parents are arranging to meet with local obstetricians, rewriting dated literature and pleading with health care workers to give out their phone numbers along with test results. Medical professionals have for the most part responded with caution. Genetic counselors, who often give test results to prospective parents, say they need to respect patients who may have already made up their minds to terminate their pregnancy. Suggesting that they read a flyer or spend a day with a family, they say, can unnecessarily complicate what is for many a painful and time-pressured decision.
Their goal, parents say, is not to force anyone to take on the task of parenting a child with disabilities. Many participants in the ad-hoc movement describe themselves as pro-choice. Yet some see themselves as society’s first line of defense against a use of genetic technology that can border on eugenics.
“For me, it’s just faces disappearing,” said Nancy Iannone, of Turnersville, N.J., mother to four daughters, including one with Down syndrome. “It isn’t about abortion politics or religion, it’s a pure ethical question.”
Others admit freely to a selfish motive for their new activism. “If all these people terminate babies with Down syndrome, there won’t be programs, there won’t be acceptance or tolerance,” said Tracy Brown, 37, of Seattle, whose 2-year-old son, Maxford, has the condition. “I want opportunities for my son. I don’t know if that’s right or wrong, but I do.”
Ms. Brown has taken it upon herself to serve as a community resource on Down syndrome for prospective parents. She was encouraged when a counselor at the University of Washington Medical Center sent her an e-mail message recently with a question from a patient.
What developmental age equivalent, the patient wanted to know, do most people with Down syndrome reach?
For parents on an e-mail list where Ms. Brown solicited answers, the question underscored the difficulty in conveying the pleasure of parenting a child with Down syndrome to someone who has the option to reject it.
“Verbally,” wrote one mother of her teenager, “she’s at a 6-month level, but what 6-month-old do you know who can climb out a window and dance on a roof?!?!? We joke that she could climb Mt. Everest.”
“If someone had told me Sam would still be in diapers at age 5 — ugh — I probably would have died,” wrote another. “Living through it, not such a big deal. Because you don’t give birth to a 5-year-old, you grow with and love this kid for five years.”
Doctors have long recommended an amniocentesis test for pregnant women 35 and over, whose age puts them at greater risk for chromosomal defects. But because it carries a small risk of miscarriage, it has not been routinely offered to younger women, who give birth to the majority of children with Down syndrome.
Now, with a first-trimester sonogram and two blood tests, doctors can gauge whether a fetus has the extra 21st chromosome that causes Down syndrome with a high degree of accuracy and without endangering the pregnancy.
But many parents see expanded testing as a step toward a society where children like theirs would be unwelcome. The Newsweek columnist George F. Will labeled it a “search and destroy mission” for a category of citizens that includes his adult son, Jon Will.
Dr. Brian Skotko, a medical resident who has studied how mothers were told of prenatal diagnoses, found a high level of dissatisfaction. He said that most doctors have little or no training on how to relay a prenatal diagnosis of Down syndrome.
When he talked to obstetricians, geneticists and medical students at Massachusetts General Hospital in Boston about the subject last month, though, he was questioned sharply.
One doctor asked about studies suggesting there is a higher risk of early-onset Alzheimer’s disease in people with Down syndrome, potentially saddling parents with another caretaking burden as they themselves age. Others take issue with the notion that they do not give parents a balanced portrayal of the condition.
“It’s a mistake to say ‘your baby is going to be mentally retarded, you should have a pregnancy termination,’ ” said Dr. Allan Nadel, director of prenatal diagnosis at the hospital. “By the same token, I don’t think it’s quite fair to say ‘these are wonderful lovely human beings, you can deal with all of their problems and it’s not that big of a deal.’ We strive to have the proper balance.”
Parent advocates have some advice: don’t begin with “I’m sorry,” or “I have bad news,” as many of their own doctors did.
Weeks after Patricia Lanter decided to continue her pregnancy, having learned that Down syndrome had been diagnosed in her fetus, her doctor reminded her that she could still get an abortion in Kansas if an ultrasound indicated the baby would need heart surgery. Ms. Lanter, an emergency physician from Norwich, Vt., has secured an invitation to lecture the obstetricians in her hospital this summer.
In Wilmington, Del., Kristin Pidgeon recalled her doctor’s gloomy forecast for a local hospital audience: “She may be able to count change for the bus,” he had said of her as-yet-unborn daughter. “But what’s going to happen when the bus doesn’t come?” (Her daughter Aliza, now 5, does not yet take the bus, Ms. Pidgeon said, but she does ride horses as part of her therapy.)
In the Detroit suburbs, Ms. Talbot is still working out the best strategy to drive her points home to medical professionals. When one doctor suggested she had chosen to show them only “high-functioning kids” like Sarah and her own daughter, Megan, she asked Trevor Taylor, who lacks the ability to communicate verbally, to join the lineup.
At the Henry Ford visit, Mr. Taylor, 19, a natural ham, acted out his speech as Megan, 18, read it, before hitting the music and signing along to “What a Wonderful World.”
At the end, he blew a kiss to the audience. Then he hugged his mother.
It also comes with letters.
To Raise a Down Syndrome Child (6 Letters)
To the Editor:
Re “Prenatal Test Puts Down Syndrome in Hard Focus” (“The DNA Age” series, front page, May 9):
It may be informative for mothers carrying Down syndrome fetuses to hear an 11-year-old patient say that “even though I have Down syndrome, it is O.K.,” but can children understand the challenges they face as they grow older and are significantly more likely to suffer from an early onset of heart disease, diabetes and Alzheimer’s disease?
Fighting Down syndrome with prenatal screening does not “border on eugenics.” It is a “search and destroy mission” on the disease, not on a category of citizens.
As a graduate student studying genetic disease, I hope that parents will harness the potential of widespread genetic testing (of both adults hoping to conceive and of fetuses) to eradicate a spectrum of painful and debilitating diseases.
William Motley
Oxford, England, May 10, 2007
The writer is a doctoral candidate in genetics in a partnership program between the University of Oxford and the National Institutes of Health.
•
To the Editor:
Your article about Down syndrome took me back 38 years to my daughter’s birth. Her condition came as a complete shock. I knew nothing positive about the syndrome, only the negative.
We were offered an opportunity to put her in a private institution “for the sake” of our other child. Thank goodness we didn’t!
This child has turned out to be a highlight of my life. She is not high functioning and will never live independently, but she walks, runs, talks, sings, laughs and feels, and her favorite activity is playing games on her computer and surfing the Internet.
Until you live with your child, of course you don’t think you can do it. You could say to prospective parents: “Don’t let the prospect of mental retardation totally throw you. There may be difficulties, but there are also tremendous joys in raising a child with Down syndrome, and most parents are able to do it. Your child will be more like normal children than not. And you will be amazed at how deeply you will fall in love.”
Susan Colodney
North Bridgewater, N.J., May 9, 2007
•
To the Editor:
I am the mother of a 20-year-old with autism. Her differences, however, do not require me to be so selfish as to want other parents to have children with a disability so that there is no impact on my daughter’s future.
I find your article to be disturbing in that here is a group that is concerned that there will be a “shortage” in the future with people afflicted with Down syndrome. I most certainly want there to be a shortage of autism in this world. What am I missing here?
Sue Palmer
Paradise Valley, Ariz., May 9, 2007
•
To the Editor:
I am shocked to hear of people who because of reasons of acceptance or tolerance of their own children with Down syndrome would advocate that others go through the tremendous social, medical and monetary burdens that are inevitable parts of this disorder.
As a pediatric cardiologist who cares for many of these very sweet children who have heart disease (approximately 50 percent incidence in children with Down syndrome), I am aware of the tremendous time and resources that parents have to devote to their child’s care and the effect that it has on family dynamics.
While cardiac surgery has made many strides to correct most of these problems, many of these children are still left with a lifetime of significant illness. This is on top of the myriad other problems that are realized to some degree in all Down syndrome children.
Medicine is often said to be “in the business of putting itself out of business” by promoting preventive care, including prenatal testing. For those who would not choose to terminate under any circumstance, there is no need to obtain testing, but for those who would like to know and possibly terminate (90 percent, according to the article), these tests are invaluable, should be made available to all and may help individuals possibly avoid a very significant life-changing illness.
Gil Herzberg, M.D.
Larchmont, N.Y., May 10, 2007
•
To the Editor:
What happens to these children once parents are no longer available to care for them?
What percentage of Down syndrome adults can live independently and earn a decent living?
While raising a child with this syndrome can be a positive experience, it is crucial that future parents approach the decision of giving birth to such a baby with a realistic view of the entire life cycle: both that of inevitably aging parents and that of an aging adult with Down syndrome.
Marion Hunt
Chapel Hill, N.C., May 9, 2007
•
To the Editor:
The parents you interviewed echo what attitude research has shown for 50 years: that people with intellectual disabilities continue to be challenged by the public’s misperceptions and limited expectations.
A national survey recently conducted by our center conclusively demonstrated that the American public believes that most people with intellectual disabilities are moderately impaired and dependent on others for their daily care.
In reality, approximately 85 percent of people with intellectual disabilities, including Down syndrome, are mildly impaired and capable of a wide range of self-help and independent living skills.
Unfortunately, the prognoses that doctors give to parents are often informed by misperceptions, leading parents to believe that a child with a disability can never achieve the quality of life demonstrated by the children in your article.
To help parents and policy makers make informed decisions about these issues, an appreciation for the wide range of competence among people with intellectual disabilities is critical.
Gary N. Siperstein
Boston, May 10, 2007
The writer is a professor and director of the Center for Social Development and Education at the University of Massachusetts, Boston.
Of course, there is commentary out there:
Link
Link
And there is a related article here
Genetic Testing + Abortion = ???
By AMY HARMON
SARAHLYNN LESTER, 32, considers herself a supporter of abortion rights. She gives money to the National Abortion Rights Action League and volunteers for Planned Parenthood.
But as a woman who continued a pregnancy after learning that her child would have Down syndrome, she also has beliefs about the ethics of choosing, or not choosing, certain kinds of children.
“I thought it would be morally wrong to have an abortion for a child that had a genetic disability,” said Ms. Lester, a marketing manager in St. Louis.
As prenatal tests make it possible to identify fetuses that will have mental retardation, deafness, early-onset Alzheimer’s disease and a range of other conditions, such personal deliberations are adding a new layer to the fraught political debate over abortion.
Abortion rights supporters — who believe that a woman has the right to make decisions about her own body — have had to grapple with the reality that the right to choose may well be used selectively to abort fetuses deemed genetically undesirable. And many are finding that, while they support a woman’s right to have an abortion if she does not want to have a baby, they are less comfortable when abortion is used by women who don’t want to have a particular baby.
“How much choice do you really want to give?” asked Arthur Caplan, chairman of the department of medical ethics at the University of Pennsylvania School of Medicine. “That’s the challenge of prenatal testing to pro-choicers.”
For many women and their partners, the decision to terminate a pregnancy after a prenatal diagnosis of a serious genetic defect can be harrowing, often coming after a painful assessment of their own emotional and financial resources.
And there is widespread support for such an option: 70 percent of Americans said they believe that women should be able to obtain a legal abortion if there is a strong chance of a serious defect in the baby, according to a 2006 poll conducted by the National Opinion Research Center.
“This issue underscores the importance of families making personal, private decisions without political interference,” said Nancy Keenan, president of Naral Pro-Choice America, in a statement. “The decision should be with women, their families, and their doctors.”
But as more tests become available for conditions that do not involve serious disabilities, childhood diseases or death in early childhood, the emerging ethical questions may inject more nuance into a perennially polarized discussion.
“It will capture where the mainstream of Americans are on prenatal testing and abortion,” Dr. Caplan added. “Which is, some reasons seem good, and some don’t.”
Traditional anti-abortion advocates, from conservative politicians to Pope Benedict, have in recent months criticized the growing use of prenatal testing as a subtle form of eugenics. But the specter of fetuses being selectively targeted for elimination also has the potential to disturb solid supporters of abortion rights.
Some disabilities rights advocates, for example, are pressing the need to reconcile protecting abortion rights with a democratic imperative to embrace human diversity.
“If the response is simply, ‘You all are just anti-women’s-right-to-choose,’ I think that misses some of the important disabilities rights issues that are being raised,” said Andrew Imparato, president of the American Association of People With Disabilities.
Mr. Imparato said he was disturbed to learn recently that in several states with legislative efforts to restrict abortion rights, groups like Planned Parenthood often lobby for an exemption for women who learn their child would have a disability.
But he said that the person who alerted him was a Planned Parenthood lobbyist who was herself troubled by the tactic because it seemed to run counter to the progressive political agenda that supports both choice and tolerance of human difference.
“You’ve got these two basic liberal values on a kind of collision course,” said Rayna Rapp, an anthropologist at New York University who has studied attitudes toward prenatal testing.
Ms. Rapp argues that it doesn’t need to be that way. One solution, she said, is to make sure the world is a more welcoming place for people with disabilities. Other disabilities rights advocates emphasize the need to educate prospective parents about the positive aspects of raising disabled children.
Still, social policy may be unable to sway a seemingly strong personal preference for avoiding children with perceived genetic defects. About 90 percent of women who learn they are carrying a fetus with the extra 21st chromosome that causes Down syndrome choose an abortion. Studies have shown that many women choose to abort for diagnoses of less serious conditions.
And a growing number of fertile couples are using in vitro fertilization to gain greater control over the genetic makeup of their children. Under a procedure known as preimplantation genetic diagnosis, doctors screen embryos for a high risk of developing breast cancer or arthritis, and implant only embryos with the desired genetic makeup.
The questions may only become murkier if testing extends to traits like homosexuality or intelligence.
But Kirsten Moore, president of the pro-choice Reproductive Health Technologies Project, said that when members of her staff recently discussed whether to recommend that any prenatal tests be banned, they found it impossible to draw a line — even at sex selection, which almost all found morally repugnant. “We all had our own zones of discomfort but still couldn’t quite bring ourselves to say, ‘Here’s the line, firm and clear’ because that is the core of the pro-choice philosophy,” she said. “You can never make that decision for someone else.”
The rhetoric of “choice,” however, can take on a more troubling resonance when it comes to selecting children with new reproductive technologies, disabilities rights advocates say. “It so buys into this consumer perspective on our children,” said Marsha Saxton, a senior researcher at the World Institute on Disability in Oakland, Calif., who is an abortion rights supporter.
With a new, more conservative Supreme Court, which has just upheld a law banning a procedure critics call partial-birth abortion, disabilities rights advocates say they fear that the reproductive rights movement sees such discussions only as an opening to abortion opponents.
“The fear is that this will be used as an excuse to limit women’s access to abortion,” said Sujatha Jesudason, associate director of the Center for Genetics and Society, a nonprofit group promoting limits on reproductive technology. “But as these selective technologies are getting popularized we need to try to agree on a set of principles without giving up the fight for reproductive rights.”
If that doesn’t happen, some abortion rights supporters say they are worried that their opponents may hijack the discussion.
“Some religious conservatives say that they trust God to give them the child that is meant to be,” wrote Ann Althouse, a law professor in Madison, Wis., who identifies herself as an abortion rights supporter on her legal blog. “But isn’t there something equivalent for social liberals? Shouldn’t they have moral standards about what reasons are acceptable for an abortion?”
It comes with a video.
With two videos.
Prenatal Test Puts Down Syndrome in Hard Focus
By AMY HARMON
DETROIT — Sarah Itoh, a self-described “almost-eleven-and-a-half,” betrayed no trace of nervousness as she told a roomful of genetic counselors and obstetricians about herself one recent afternoon.
She likes to read, she said. Math used to be hard, but it is getting easier. She plays clarinet in her school band. She is a junior girl scout and an aunt, and she likes to organize, so her room is very clean. Last year, she won three medals in the Special Olympics.
“I am so lucky I get to do so many things,” she concluded. “I just want you to know, even though I have Down syndrome, it is O.K.”
Sarah’s appearance at Henry Ford Hospital here is part of an unusual campaign being undertaken by parents of children with Down syndrome who worry about their future in the face of broader prenatal testing that could sharply reduce the number of those born with the genetic condition.
Until this year, only pregnant women 35 and older were routinely tested to see if their fetuses had the extra chromosome that causes Down syndrome. As a result many couples were given the diagnosis only at birth. But under a new recommendation from the American College of Obstetricians and Gynecologists, doctors have begun to offer a new, safer screening procedure to all pregnant women, regardless of age.
About 90 percent of pregnant women who are given a Down syndrome diagnosis have chosen to have an abortion.
Convinced that more couples would choose to continue their pregnancies if they better appreciated what it meant to raise a child with Down syndrome, a growing group of parents is seeking to insert their own positive perspectives into a decision often dominated by daunting medical statistics and doctors who feel obligated to describe the difficulties of life with a disabled child.
They are pressing obstetricians to send them couples who have been given a prenatal diagnosis and inviting prospective parents into their homes to meet their children. In Massachusetts, for example, volunteers in a “first call” network linking veteran parents to new ones are now offering support to couples deciding whether to continue a pregnancy.
The parent evangelists are driven by a deep-seated fear for their children’s well-being in a world where there are fewer people like them. But as prenatal tests become available for a range of other perceived genetic imperfections, they may also be heralding a broader cultural skirmish over where to draw the line between preventing disability and accepting human diversity.
“We want people who make this decision to know our kids,” said Lucy Talbot, the president of a support group here who prevailed on the hospital to give Sarah and two teenage friends an audience. “We want them to talk to us.”
The focus on the unborn is new for most parent advocates, who have traditionally directed their energy toward support for the born. But after broader testing was recommended in January, the subject began to hijack agendas at local support group meetings.
A dwindling Down syndrome population, which now stands at about 350,000, could mean less institutional support and reduced funds for medical research. It could also mean a lonelier world for those who remain.
“The impact of these changes on the Down syndrome community is going to be huge,” said Dani Archer, a mother in Omaha who has set aside other Down syndrome volunteer work to strategize about how to reach prospective parents.
The 5,500 children born with Down syndrome each year in the United States suffer from mild to moderate mental retardation, are at high risk for congenital heart defects and a variety of other medical problems, and have an average life expectancy of 49. As adults, some hold jobs, but many have difficulty living independently.
“There are many couples who do not want to have a baby with Down syndrome,” said Deborah A. Driscoll, chief of the obstetrics department at the University of Pennsylvania and a lead author of the new recommendation from the obstetricians’ group. “They don’t have the resources, don’t have the emotional stamina, don’t have the family support. We are recommending this testing be offered so that parents have a choice.”
But the richness of their children’s lives, parent advocates say, is poorly understood. Early medical intervention and new expertise in infant heart surgery stave off many health problems; legally mandated inclusion in public schools has created opportunities for friendship and fostered broader social awareness of the condition.
With no formal financing or organization, parents are arranging to meet with local obstetricians, rewriting dated literature and pleading with health care workers to give out their phone numbers along with test results. Medical professionals have for the most part responded with caution. Genetic counselors, who often give test results to prospective parents, say they need to respect patients who may have already made up their minds to terminate their pregnancy. Suggesting that they read a flyer or spend a day with a family, they say, can unnecessarily complicate what is for many a painful and time-pressured decision.
Their goal, parents say, is not to force anyone to take on the task of parenting a child with disabilities. Many participants in the ad-hoc movement describe themselves as pro-choice. Yet some see themselves as society’s first line of defense against a use of genetic technology that can border on eugenics.
“For me, it’s just faces disappearing,” said Nancy Iannone, of Turnersville, N.J., mother to four daughters, including one with Down syndrome. “It isn’t about abortion politics or religion, it’s a pure ethical question.”
Others admit freely to a selfish motive for their new activism. “If all these people terminate babies with Down syndrome, there won’t be programs, there won’t be acceptance or tolerance,” said Tracy Brown, 37, of Seattle, whose 2-year-old son, Maxford, has the condition. “I want opportunities for my son. I don’t know if that’s right or wrong, but I do.”
Ms. Brown has taken it upon herself to serve as a community resource on Down syndrome for prospective parents. She was encouraged when a counselor at the University of Washington Medical Center sent her an e-mail message recently with a question from a patient.
What developmental age equivalent, the patient wanted to know, do most people with Down syndrome reach?
For parents on an e-mail list where Ms. Brown solicited answers, the question underscored the difficulty in conveying the pleasure of parenting a child with Down syndrome to someone who has the option to reject it.
“Verbally,” wrote one mother of her teenager, “she’s at a 6-month level, but what 6-month-old do you know who can climb out a window and dance on a roof?!?!? We joke that she could climb Mt. Everest.”
“If someone had told me Sam would still be in diapers at age 5 — ugh — I probably would have died,” wrote another. “Living through it, not such a big deal. Because you don’t give birth to a 5-year-old, you grow with and love this kid for five years.”
Doctors have long recommended an amniocentesis test for pregnant women 35 and over, whose age puts them at greater risk for chromosomal defects. But because it carries a small risk of miscarriage, it has not been routinely offered to younger women, who give birth to the majority of children with Down syndrome.
Now, with a first-trimester sonogram and two blood tests, doctors can gauge whether a fetus has the extra 21st chromosome that causes Down syndrome with a high degree of accuracy and without endangering the pregnancy.
But many parents see expanded testing as a step toward a society where children like theirs would be unwelcome. The Newsweek columnist George F. Will labeled it a “search and destroy mission” for a category of citizens that includes his adult son, Jon Will.
Dr. Brian Skotko, a medical resident who has studied how mothers were told of prenatal diagnoses, found a high level of dissatisfaction. He said that most doctors have little or no training on how to relay a prenatal diagnosis of Down syndrome.
When he talked to obstetricians, geneticists and medical students at Massachusetts General Hospital in Boston about the subject last month, though, he was questioned sharply.
One doctor asked about studies suggesting there is a higher risk of early-onset Alzheimer’s disease in people with Down syndrome, potentially saddling parents with another caretaking burden as they themselves age. Others take issue with the notion that they do not give parents a balanced portrayal of the condition.
“It’s a mistake to say ‘your baby is going to be mentally retarded, you should have a pregnancy termination,’ ” said Dr. Allan Nadel, director of prenatal diagnosis at the hospital. “By the same token, I don’t think it’s quite fair to say ‘these are wonderful lovely human beings, you can deal with all of their problems and it’s not that big of a deal.’ We strive to have the proper balance.”
Parent advocates have some advice: don’t begin with “I’m sorry,” or “I have bad news,” as many of their own doctors did.
Weeks after Patricia Lanter decided to continue her pregnancy, having learned that Down syndrome had been diagnosed in her fetus, her doctor reminded her that she could still get an abortion in Kansas if an ultrasound indicated the baby would need heart surgery. Ms. Lanter, an emergency physician from Norwich, Vt., has secured an invitation to lecture the obstetricians in her hospital this summer.
In Wilmington, Del., Kristin Pidgeon recalled her doctor’s gloomy forecast for a local hospital audience: “She may be able to count change for the bus,” he had said of her as-yet-unborn daughter. “But what’s going to happen when the bus doesn’t come?” (Her daughter Aliza, now 5, does not yet take the bus, Ms. Pidgeon said, but she does ride horses as part of her therapy.)
In the Detroit suburbs, Ms. Talbot is still working out the best strategy to drive her points home to medical professionals. When one doctor suggested she had chosen to show them only “high-functioning kids” like Sarah and her own daughter, Megan, she asked Trevor Taylor, who lacks the ability to communicate verbally, to join the lineup.
At the Henry Ford visit, Mr. Taylor, 19, a natural ham, acted out his speech as Megan, 18, read it, before hitting the music and signing along to “What a Wonderful World.”
At the end, he blew a kiss to the audience. Then he hugged his mother.
It also comes with letters.
To Raise a Down Syndrome Child (6 Letters)
To the Editor:
Re “Prenatal Test Puts Down Syndrome in Hard Focus” (“The DNA Age” series, front page, May 9):
It may be informative for mothers carrying Down syndrome fetuses to hear an 11-year-old patient say that “even though I have Down syndrome, it is O.K.,” but can children understand the challenges they face as they grow older and are significantly more likely to suffer from an early onset of heart disease, diabetes and Alzheimer’s disease?
Fighting Down syndrome with prenatal screening does not “border on eugenics.” It is a “search and destroy mission” on the disease, not on a category of citizens.
As a graduate student studying genetic disease, I hope that parents will harness the potential of widespread genetic testing (of both adults hoping to conceive and of fetuses) to eradicate a spectrum of painful and debilitating diseases.
William Motley
Oxford, England, May 10, 2007
The writer is a doctoral candidate in genetics in a partnership program between the University of Oxford and the National Institutes of Health.
•
To the Editor:
Your article about Down syndrome took me back 38 years to my daughter’s birth. Her condition came as a complete shock. I knew nothing positive about the syndrome, only the negative.
We were offered an opportunity to put her in a private institution “for the sake” of our other child. Thank goodness we didn’t!
This child has turned out to be a highlight of my life. She is not high functioning and will never live independently, but she walks, runs, talks, sings, laughs and feels, and her favorite activity is playing games on her computer and surfing the Internet.
Until you live with your child, of course you don’t think you can do it. You could say to prospective parents: “Don’t let the prospect of mental retardation totally throw you. There may be difficulties, but there are also tremendous joys in raising a child with Down syndrome, and most parents are able to do it. Your child will be more like normal children than not. And you will be amazed at how deeply you will fall in love.”
Susan Colodney
North Bridgewater, N.J., May 9, 2007
•
To the Editor:
I am the mother of a 20-year-old with autism. Her differences, however, do not require me to be so selfish as to want other parents to have children with a disability so that there is no impact on my daughter’s future.
I find your article to be disturbing in that here is a group that is concerned that there will be a “shortage” in the future with people afflicted with Down syndrome. I most certainly want there to be a shortage of autism in this world. What am I missing here?
Sue Palmer
Paradise Valley, Ariz., May 9, 2007
•
To the Editor:
I am shocked to hear of people who because of reasons of acceptance or tolerance of their own children with Down syndrome would advocate that others go through the tremendous social, medical and monetary burdens that are inevitable parts of this disorder.
As a pediatric cardiologist who cares for many of these very sweet children who have heart disease (approximately 50 percent incidence in children with Down syndrome), I am aware of the tremendous time and resources that parents have to devote to their child’s care and the effect that it has on family dynamics.
While cardiac surgery has made many strides to correct most of these problems, many of these children are still left with a lifetime of significant illness. This is on top of the myriad other problems that are realized to some degree in all Down syndrome children.
Medicine is often said to be “in the business of putting itself out of business” by promoting preventive care, including prenatal testing. For those who would not choose to terminate under any circumstance, there is no need to obtain testing, but for those who would like to know and possibly terminate (90 percent, according to the article), these tests are invaluable, should be made available to all and may help individuals possibly avoid a very significant life-changing illness.
Gil Herzberg, M.D.
Larchmont, N.Y., May 10, 2007
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To the Editor:
What happens to these children once parents are no longer available to care for them?
What percentage of Down syndrome adults can live independently and earn a decent living?
While raising a child with this syndrome can be a positive experience, it is crucial that future parents approach the decision of giving birth to such a baby with a realistic view of the entire life cycle: both that of inevitably aging parents and that of an aging adult with Down syndrome.
Marion Hunt
Chapel Hill, N.C., May 9, 2007
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To the Editor:
The parents you interviewed echo what attitude research has shown for 50 years: that people with intellectual disabilities continue to be challenged by the public’s misperceptions and limited expectations.
A national survey recently conducted by our center conclusively demonstrated that the American public believes that most people with intellectual disabilities are moderately impaired and dependent on others for their daily care.
In reality, approximately 85 percent of people with intellectual disabilities, including Down syndrome, are mildly impaired and capable of a wide range of self-help and independent living skills.
Unfortunately, the prognoses that doctors give to parents are often informed by misperceptions, leading parents to believe that a child with a disability can never achieve the quality of life demonstrated by the children in your article.
To help parents and policy makers make informed decisions about these issues, an appreciation for the wide range of competence among people with intellectual disabilities is critical.
Gary N. Siperstein
Boston, May 10, 2007
The writer is a professor and director of the Center for Social Development and Education at the University of Massachusetts, Boston.
Of course, there is commentary out there:
Link
Link
And there is a related article here
Genetic Testing + Abortion = ???
By AMY HARMON
SARAHLYNN LESTER, 32, considers herself a supporter of abortion rights. She gives money to the National Abortion Rights Action League and volunteers for Planned Parenthood.
But as a woman who continued a pregnancy after learning that her child would have Down syndrome, she also has beliefs about the ethics of choosing, or not choosing, certain kinds of children.
“I thought it would be morally wrong to have an abortion for a child that had a genetic disability,” said Ms. Lester, a marketing manager in St. Louis.
As prenatal tests make it possible to identify fetuses that will have mental retardation, deafness, early-onset Alzheimer’s disease and a range of other conditions, such personal deliberations are adding a new layer to the fraught political debate over abortion.
Abortion rights supporters — who believe that a woman has the right to make decisions about her own body — have had to grapple with the reality that the right to choose may well be used selectively to abort fetuses deemed genetically undesirable. And many are finding that, while they support a woman’s right to have an abortion if she does not want to have a baby, they are less comfortable when abortion is used by women who don’t want to have a particular baby.
“How much choice do you really want to give?” asked Arthur Caplan, chairman of the department of medical ethics at the University of Pennsylvania School of Medicine. “That’s the challenge of prenatal testing to pro-choicers.”
For many women and their partners, the decision to terminate a pregnancy after a prenatal diagnosis of a serious genetic defect can be harrowing, often coming after a painful assessment of their own emotional and financial resources.
And there is widespread support for such an option: 70 percent of Americans said they believe that women should be able to obtain a legal abortion if there is a strong chance of a serious defect in the baby, according to a 2006 poll conducted by the National Opinion Research Center.
“This issue underscores the importance of families making personal, private decisions without political interference,” said Nancy Keenan, president of Naral Pro-Choice America, in a statement. “The decision should be with women, their families, and their doctors.”
But as more tests become available for conditions that do not involve serious disabilities, childhood diseases or death in early childhood, the emerging ethical questions may inject more nuance into a perennially polarized discussion.
“It will capture where the mainstream of Americans are on prenatal testing and abortion,” Dr. Caplan added. “Which is, some reasons seem good, and some don’t.”
Traditional anti-abortion advocates, from conservative politicians to Pope Benedict, have in recent months criticized the growing use of prenatal testing as a subtle form of eugenics. But the specter of fetuses being selectively targeted for elimination also has the potential to disturb solid supporters of abortion rights.
Some disabilities rights advocates, for example, are pressing the need to reconcile protecting abortion rights with a democratic imperative to embrace human diversity.
“If the response is simply, ‘You all are just anti-women’s-right-to-choose,’ I think that misses some of the important disabilities rights issues that are being raised,” said Andrew Imparato, president of the American Association of People With Disabilities.
Mr. Imparato said he was disturbed to learn recently that in several states with legislative efforts to restrict abortion rights, groups like Planned Parenthood often lobby for an exemption for women who learn their child would have a disability.
But he said that the person who alerted him was a Planned Parenthood lobbyist who was herself troubled by the tactic because it seemed to run counter to the progressive political agenda that supports both choice and tolerance of human difference.
“You’ve got these two basic liberal values on a kind of collision course,” said Rayna Rapp, an anthropologist at New York University who has studied attitudes toward prenatal testing.
Ms. Rapp argues that it doesn’t need to be that way. One solution, she said, is to make sure the world is a more welcoming place for people with disabilities. Other disabilities rights advocates emphasize the need to educate prospective parents about the positive aspects of raising disabled children.
Still, social policy may be unable to sway a seemingly strong personal preference for avoiding children with perceived genetic defects. About 90 percent of women who learn they are carrying a fetus with the extra 21st chromosome that causes Down syndrome choose an abortion. Studies have shown that many women choose to abort for diagnoses of less serious conditions.
And a growing number of fertile couples are using in vitro fertilization to gain greater control over the genetic makeup of their children. Under a procedure known as preimplantation genetic diagnosis, doctors screen embryos for a high risk of developing breast cancer or arthritis, and implant only embryos with the desired genetic makeup.
The questions may only become murkier if testing extends to traits like homosexuality or intelligence.
But Kirsten Moore, president of the pro-choice Reproductive Health Technologies Project, said that when members of her staff recently discussed whether to recommend that any prenatal tests be banned, they found it impossible to draw a line — even at sex selection, which almost all found morally repugnant. “We all had our own zones of discomfort but still couldn’t quite bring ourselves to say, ‘Here’s the line, firm and clear’ because that is the core of the pro-choice philosophy,” she said. “You can never make that decision for someone else.”
The rhetoric of “choice,” however, can take on a more troubling resonance when it comes to selecting children with new reproductive technologies, disabilities rights advocates say. “It so buys into this consumer perspective on our children,” said Marsha Saxton, a senior researcher at the World Institute on Disability in Oakland, Calif., who is an abortion rights supporter.
With a new, more conservative Supreme Court, which has just upheld a law banning a procedure critics call partial-birth abortion, disabilities rights advocates say they fear that the reproductive rights movement sees such discussions only as an opening to abortion opponents.
“The fear is that this will be used as an excuse to limit women’s access to abortion,” said Sujatha Jesudason, associate director of the Center for Genetics and Society, a nonprofit group promoting limits on reproductive technology. “But as these selective technologies are getting popularized we need to try to agree on a set of principles without giving up the fight for reproductive rights.”
If that doesn’t happen, some abortion rights supporters say they are worried that their opponents may hijack the discussion.
“Some religious conservatives say that they trust God to give them the child that is meant to be,” wrote Ann Althouse, a law professor in Madison, Wis., who identifies herself as an abortion rights supporter on her legal blog. “But isn’t there something equivalent for social liberals? Shouldn’t they have moral standards about what reasons are acceptable for an abortion?”
