Avery Engelman
with her mom Cherie
and sister Dakota.
wlz
Who Should Be Tested?
Since there is no mandatory screening to determine
who is a carrier of CF, nor is there one for newborns
to see if they have the disease, most doctors do not
routinely suggest either one.
Dr. Ibrahim Abdulhamid, director of Pediatric
Pulmonary Medicine at Children's Hospital of
Michigan in Detroit, says he advises only those cou-
ples with "a family history be screened for CF muta-
tions before pregnancy to see if they are carriers."
That's exactly what Cherie Engelman has heard
from her friends. "Their doctors tell them, 'You
don't know anyone in your family who has it, so for-
get it.'"
But she adds adamantly, "Avery is the first one we
know of in my family. My grandmother is 80 and
doesn't remember anyone having it."
Dr. Abdulhamid confirms that many parents with
children with CF are the first in many years to have
it. "Carriers can pass the gene for generations before
a child is born with CF," he says.
"We were told the disease can stay dormant for
many, many years," says Janet Kaufman of West
Bloomfield, a member of the Beth Ahm carnival
committee, whose 11-year-old niece has CE Until
the diagnosis, no one in Kaufman's family knew if
they were carriers.
"I never thought about whether my husband or I
could be carriers until my sister's daughter in St.
Louis was diagnosed. Everybody was scratching
their heads. We don't recall it being anywhere in
our family."
But, after finding out her niece has the disease,
members of Kaufnian's family were tested, and
stunned to find both of her parents, each of her sib-
lings, her sister's four healthy children and Kaufman
herself are carriers. Armed with the knowledge,
Kaufman's husband was tested prior to her first preg-
nancy and was deemed a noncarrier, so their chil-
dren could not have the disease.
Family Planning
"Most people I talk to are extremely surprised at
the prevalence among Jews," Kaufman says. "We
were tested for Tay-Sachs, but no one ever suggest-
ed testing us for cystic fibrosis."
Tay-Sachs is a fatal genetic disorder causing pro-
gressive destruction of the central nervous system
that is carried by one in every 27 Jews in the
United States.
Prior to planning families, many Jewish couples
receive genetic carrier testing for Canavan disease,
a degenerative and fatal brain disease carried by 1
in every 40 Ashkenazi Jews, and for Gaucher's dis-
ease, a lipid storage disorder that can be fatal and
is carried by as many as one in 10 Jewish people of
Eastern European ancestry. But most are unaware
of their chances of carrying CF.
Janice Traison remembers her sister-in-law Sheri
Devries, who died of a rare form of adult-onset CF
last December, asking, 'Why do they routinely test
for Tay-Sachs, but not for cystic fibrosis?'
"It is important for all Jews to know that they
should be tested," says Traison, whose children
have attended Beth Ahm's nursery school, as did
the Devries' daughter Rachel. "It is so important
for people to know how prevalent cystic fibrosis is
in the Jewish community."
Once potential parents become aware that they
are carriers, Dr. Abdulhamid says, "the chances of
them having a baby with CF are 25 percent."
Cherie Engelman knew what that meant when
she became pregnant with her second child last
year.
Two options are available prenatally to deter-
mine whether a child will have CF: chorionic vil-
lus sampling, (CVS) removal of a small piece of
placental tissue from the fetus at 10 to 12 weeks,
and fetal cell analysis of amniotic fluid obtained at
15 to 22 weeks gestation.
Deciding on CVS, Engelman says, "We put it in
,7Km
kitt4 ,4
God's hands." Results showed their daughter
Dakota, now 7 months old, does not have CE
Research continues in areas including gene therapy
and development of new drugs to control and hope-
fully cure CF.
For CF patients who experience respiratory fail-
ure, lung transplants have been an effective thera-
py for some in the last 10 years. Fifty percent of
CF patients are expected to live until their 30s.
"We are holding the carnival for awareness,"
Cherie Engelman says. "I started by telling every
person I know to go to their doctor and say, 'I
need to be tested.'" When she started getting calls
from Jewish parents of children who have CF
telling her they didn't know there was a test to
determine if they carried the defective CF gene,
she says, "I wanted this to go farther. I want every
person to know that they can go to their doctor
and say, 'I need to be tested.'"
❑
The Avery Monet Foundation Carnival will
take. place noon-4 p.m. on Sunday, June 3, at
Congregation Beth Ahm. Tax-deductible dona-
tions will be divided between the synagogue's
Samantha Erin Rosen Nursery School and the
Metropolitan Detroit Chapter of the Cystic
Fibrosis Foundation. Tickets are $10 in
advance/$15 at the door; cost per family is $40
in advance/$60 at the door; children younger
than 2 are admitted free.
Puppet show, 1-2 p.m.; magic show, 2-3
p.m. For information, call Joyce Epstein at
Beth Ahm, at (248) 851-6880. Rain day, 4 to
8 p.m., Thursday, June 21.
For information on cystic fibrosis, call the
Metropolitan Detroit Chapter of the Cystic
Fibrosis Foundation at (248) 269-8759 or access
the Web site at: www.cfforg/metrodetroit.htm
2001
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