5/9/2007 - Prenatal Test Puts Down Syndrome in Hard Focus

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.

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