This Week

Cover Story

GER

Avery Engelman's cystic fibrosis
prompts her parents to fight
for screening of the disease,
prevalent among Jews

SHELLI LIEBMAN DORFMAN
Staff Writer

S earthing for answers after their daughter,
Avery Monet, was diagnosed with the genet-
ic, hereditary disease cystic fibrosis, Cherie
and Daniel Engelman of West Bloomfield
poured through literature that described everything
from symptoms to treatment and research.
But they found the tapes and books they consult-
ed were missing one shocking fact. "There was noth-
ing that told how prevalent cystic fibrosis is among
Jews," Cherie Engelman says.
The couple soon discovered that among those with
no known family history, the second highest group to
be carriers of the disease are Ashkenazi Jews, or Jews
of Eastern European descent, which includes both
the Engelmans. In fact, one of every 29 individuals
born to this group are carriers of CF. The highest
incidence falls among Caucasian individuals of
Northern European ancestry, with one in 25 births.
"We knew absolutely nothing about cystic fibrosis
before Avery was born," Daniel Engelman says.
"Until you have a child with it, you can't understand
what it means."
Their experience motivated their desire to make
certain everyone they come in contact with knows
about the disease and how common it is in the
Jewish community.
They began to seek ways to promote awareness of
what cystic fibrosis is, its frequency in the Jewish
community and the need forJews to determine if
they carry the disease. Turning to their synagogue,
Congregation Beth Ahm, they elicited the help of
Joyce Epstein, director of the Samantha Erin Rosen
Nursery School, where 2-year-old Avery is a student.
Together they created the Avery Monet Foundation
Carnival. Proceeds will be shared by the nursery school
and the Metropolitan Detroit Chapter of the Cystic
Fibrosis Foundation in Troy. The event will take place

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noon-4 this Sunday, June 3, at the synagogue.
As soon as the carnival was publicized, Epstein
began hearing from others whose lives have been
touched by CF.
"I was very surprised at how many people at Beth
Ahm were affected by the disease," she says.

What Is Cystic Fibrosis?

Avery is one of 30,000 American children and adults
with the disease that can affect respiratory, digestive
and reproductive organs.
The hereditary, genetic disorder can cause mucus,
saliva and intestinal fluids to be thick and sticky. For
those whose lungs are involved, breathing problems,
infections and lung damage may occur. They may
also have persistent coughing, recurrent pneumonia,
wheezing, sinus infections and nasal polyps.
When the digestive system is affected, as Avery's is,
digestion of food may be difficult, causing excessive
appetite, but poor weight gain.
Avery, like many other infants with CF-related
digestive disorders, was diagnosed when she was
born. She had meconium ileus, an obstruction of the
intestine, common to those with CF.
Her disease \Alas confirmed with blood work and a
sweat test," an assessment of salt levels in the sweat.
High levels, typical to CF patients, indicate the
faulty transport of sodium and chloride within the
cells lining affected organs.
Avery had surgery to repair the intestinal blockage
the day after she was born. "She was 3-weeks-old, to
the day, when we brought her home," Cherie
Engelman says of her first child.
With no cure for CF, symptoms are controlled
with various treatments. In many patients, medicat-
ed vapors or aerosols ease breathing and postural
drainage. Daily chest physical therapy involving
pounding on the chest or back may help dislodge
mucus from the lungs.

"

Many patients, like Avery, take pancreatic
enzymes with meals to help digest food. "Ever
since we brought her home from the hospital, she
has been taking them," Engelman says. "At 3
weeks, I would open the pills and spoon feed
them to her in applesauce. Now she is so used to
them, she takes them at school and camp and
anywhere she goes. Before she eats she'll say,
`Mommy, I need my enzymes.'"
An enriched diet and replacement vitamins may
also be taken by some patients.
Most males and some females with CF are infertile.

Screening For CF

Until Avery was diagnosed, neither of the Engelmans
was aware they were among 10 million symptom-
free carriers of the disease that is transmitted when
both parents carry the defective CF gene.
"I remember when I was pregnant, my doctor
asked me if I had a family history of cystic fibrosis,"
Cherie Engelman says. "When I told him no, he
told me the chances were very slim of having a baby
with it. The test for it is very expensive — 5300 —
and not covered by insurance and I would have had
to go to a different doctor's office to get it."
She was unaware then that the most common type
of CF gene mutation (the DF508 deletion) is pres-
ent in 30 percenr of Ashkenazi Jewish CF carriers. A
simple analysis of blood or cells, typically scraped
from the inside of the mouth, detects 95 percent of
the carriers with this deletion.
Currently, the American College of Obstetricians
and Gynecologists (ACOG) . recommends CF carrier
screening be offered to spouses of those with CF or
those with a family history of the disease, even
though 80 percent of children with CF are born to
parents with no prior history. For the last four years
the ACOG has been investigating the possibility of
also recommending screening to those planning a
pregnancy or seeking prenatal care.

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