People with Down syndrome have something extra. It is not only the extra 21st
chromosome that causes all the physical, developmental and cognitive problems –
but the extra soul, delightfulness and gentleness that they seem to have at any
age. Those who have seen Down syndrome children at play or adults volunteering
in the Israel Defense Forces, working with children or in a service profession
knows they are especially giving and undemanding.
“It should not be Down
syndrome but Up syndrome,” said Efrat Dotan, a buoyant and beautiful 28-year-old
born to modern Orthodox Jerusalem parents who refused to abort a fetus with the
syndrome. Efrat not only works for her living at Jerusalem’s Shalva Center for
Disabled Children, taking care of babies with the same disability, but doubles
as an interviewer of statesmen, politicians, celebrities, physicians, scientists
and others, and is due to be dispatched by Shalva to Washington to put her
microphone in front of even more people.
“Living Independently” – like
Efrat, who introduced the speakers – was the name of an all-day conference to
mark World Down Syndrome Day at Hadassah University Medical Center on
Jerusalem’s Mount Scopus recently. It was held a few days belatedly, as the
international day is intentionally held on the 21st (referring to the
chromosome) of March (the third month, referring to the excess chromosome). The
Hadassah Medical Organization hosted the fifth-annual event, while organizers
and participants included Shalva, the Jerusalem Municipality, the Ministry of
Welfare and Social Affairs, the Shalem Foundation, the Hebrew University and
Yated – all of whom devote efforts to improving the life, treatment and
integration of Down syndrome children and adults.
Outgoing HMO
director-general Prof. Shlomo Mor- Yosef, who greeted the hundreds of (mostly
female) participants, revealed that he himself has a sister, now 58, who was
born with Down syndrome. “I am very proud that Hadassah is part of this activity
and work to help people with the syndrome,” he said.
John Langdon Down
was the British doctor who first described the syndrome in 1866. In 1959, the
cause – having a total of 47 instead of 46 chromosomes – was discovered by
Jerome Lejeune, who identified the 21st chromosome trisomy. While in the
mid-20th century, those born with the defect survived maybe into their 30s or
40s, better understanding, imaging and treatment have raised mean survival to
60.
As people with Down syndrome often have a multitude of health
problems and a variety of checkups to be performed, Hadassah on Mount Scopus has
a multidisciplinary, one-stop clinic for them, eliminating the need to run from
one facility to another. It offers not only strictly medical diagnoses, but also
psychological, genetic, dietary, communications and scanning help.
PROF.
EITAN KEREM, the new head of pediatrics at Hadassah University Medical Center in
Jerusalem’s Ein Kerem, was promoted from the pediatric department on Mount
Scopus, where this expert in pediatric respiratory medicine directed the cystic
fibrosis center. “We have on Mount Scopus a chronic disability unit for
childrern, and the Down syndrome center, where many of the patients are now
adults.” That is due to the fact that Down syndrome is better diagnosed
prenatally, and in the near future such diagnosis will be 100 percent accurate
at an early stage of gestation, allowing earlier abortions. But even with
threedimensional imaging and invasive amniocentesis and chorionic villus
sampling, about 150 Down babies are born in Israel each year, as some families –
both observant and secular, Jewish and Arab – oppose the destruction of these
pure souls.
Dr. Ariel Tenenbaum, head of Hadassah’s Down center and main
host of the conference, said that an easy test of a pregnant woman’s blood
discovered by researchers in Cyprus less than two months ago to identify the
genetic syndrome in fetuses at 11 or 12 weeks with 100% accuracy could
significantly reduce the number of mentally disabled children born in
Israel.
The new blood test discovery, published in Nature Medicine by
lead author Dr. Philippos Patsalis of the Cyprus Institute of Neurology and
Genetics, showed 100% sensitivity and 100% specificity in all Down syndrome
pregnancies. The blood test was examined in 14 women with proven Down syndrome
fetuses and 26 with normal fetuses. It is premature for pregnant women to ask
for the test now, because it has to be tried in more women, approved by the
authorities and produced on a commercial basis; then it is likely to become a
standard test in high demand around the world. One foreign company said it could
launch the new test in about a year. The team of researchers from Cyprus,
Britain and Greece said they correctly identified 14 Down syndrome cases and 26
normal fetuses in a double-blind test. The blood exam could easily be performed
in ordinary labs that test pregnant women’s blood.
Until then, women who
want to know for sure if they have a Down fetus will have to undergo invasive
tests (amniocentesis or chorionic villus sampling, which can raise the risk of
miscarriage and other complications). They can get less-accurate results by
having conventional blood test screening, which most Israeli women (but many
fewer haredim) undergo today.
TENENBAUM, whose center has been operating
for some seven years, discussed the numerous physical problems that appear in
people with the syndrome. These, he said, include sleep apnea, recurrent lung
infections, heart defects, gastrointestinal blockages, reduced hearing, hip
dislocations, hypothyroid conditions, diabetes, cataracts and dental disorders.
Children with the syndrome have a widely recognized appearance, with a head that
may be abnormally small and perhaps with a flat area on the back; the inner
corner of the eyes may be rounded or slanted upward like an Oriental instead of
pointed like a Westerner’s.
The Hadassah pediatrician also described the
characteristic flattened nose, decreased muscle tone at birth, excess skin at
the nape of the neck, small ears and mouth, single crease in the palm of the
hand, and typical behavioral problems such as short attention spans, slow
learning, impulsive behavior and, as teens, frustration over their
limitations.
They also often have below-average cognitive ability, but a
few have severeto- profound mental disability. One out of three have attention
deficits, he added.
PROF. SIMCHA YAGEL, director of the ultrasound center
of Hadassah-Mount Scopus’s obstetrics/gynecology department – who actually
delivered Efrat in 1983 – said the scanning of Down fetuses is incredibly
detailed today.
About 40% of congenital defects appear in the developing
heart.
When defects are diagnosed early in the womb with advanced 3-D
imaging, surgeons may be able to repair the defect even before birth, said Yagel
as he showed images of a hypoplastic left heart and transposition of the great
arteries. One can also look at blood flow in other blood vessels, including the
veins.
“There may also be a blockage in the esophagus that can be
treated,” he continued.
He recalled vividly Efrat’s mother’s delivery.
“It was my privilege to bring you into the world,” he said, hugging the young
woman. “It was great that I was born – even with Down syndrome. I am different,
but I am worth it!” she unabashedly replied.
Dr. Michal Luria of
Hadassah’s sexual health clinic focused on the touchy subject – especially among
the observant – of sexual relations between Down syndrome adults who don’t get
married (although a handful do). “This matter is on the border where culture,
ethics, religion, ethics, ideals, psychology and biology meet,” she
said.
“It is not just about having sex, but the basic right of every
person to be happy and make connections with friends and lovers, experiment with
their body, have sexual feelings and learn social skills. They need sex
education, lessons on hygiene and how to take care of oneself, to understand
anatomy and how the body develops, empowerment and setting limits.” She noted
that there have been numerous cases of sexual abuse of Down people and others
who are mentally disabled. “When we counsel them, we make a mark on the floor,
explaining that the individual decides who is allowed to come into their space,
that there is touch that is good and touch that is not good. They must
understand whether a behavior is appropriate, whether you can hit your brother,
wave to a neighbor, kiss your dentist, what private parts are, and how to
protect yourself in public bathrooms or bedrooms.”
There should be more
places for Down individuals to meet and create social lives, she said. The
feeling of embarrassment disappears with time. “But they need information and
supervision; they must be helped with birth control, as a pregnancy to a Down
syndrome couple inevitably means more disability. If we see such a couple kiss,
we should educate them, as they have normal urges. Those with Down can be
homosexual as well. We usually don’t think of this. We have to honor this, as
nobody chooses it; they are born with it.”
In recent years, numerous
films have portrayed Down syndrome in realistic ways, said Emanuel Schein of the
organization Shekel, but others still spread stigma. “The media and movies
influence opinion and can create or break stereotypes. I am now doing a
doctorate on cinema and disability. Some are patronizing, portraying the
disabled as sick and victims of violence. There are also Down people who say
they are ‘ill.’ Some may be shown as a burden on society and their families, as
being their own worst enemy and dangerous to society because they supposedly
can’t control themselves.”
But Schein insisted that disabled people work
in the media and films. “We developed a TV community showing the disabled how to
edit movies.” A new local film that will soon be at the Tel Aviv Film Festival
has actors who have Down. He also presented an American documentary about a non-
Orthodox family having a moving bar mitzva for the Down child in their
family.
Thanks to this film, such celebrations are not foreign to
us.”
Shalva, founded in 1990 by Rabbi Kalman and Malki Samuels, can take
a lot of credit for the advancement of Down children. Their son Yossi was born a
normal child 34 years ago, but a tragic bad vaccination led to him becoming both
deaf and blind. Their experience with the challenge of raising a special-needs
child, coupled with a strong desire to help families in similar situations, was
the inspiration behind the creation of Shalva.
Its facilities provide
services to more than 500 with special needs, including infants, children,
adolescents and young adults through a variety of specially designed programs
and round-the-clock therapies, seven days a week; Shalva, staffed by
professionals as well as volunteers, accompanies the child and family from birth
to adulthood, and its Learning and Development Institute, led by Tel Aviv Prof.
Malka Margalit, works to advance understanding of the special-needs population.
The institute hopes to extend this knowledge to field professionals as well as
to the lay population.
It is no surprise that Efrat Dotan and her family
praise both Prof. Reuven Feuerstein’s International Center for the Enhancement
of Learning and Shalva (where she spent years as a child) for encouraging her
and – in the end – hiring her to advance those like her.