The day after her baby's bris, Devora received a phone
call that cast a deep shadow on her happiness.
"Hello, is this Devora Levin?" the unfamiliar voice asked.
"Yes, it is."
"I'm calling from Tipat Chalav. Your baby's PKU test has to
be redone. When can you come in to do it?"
Devora was confused. She didn't even know what a PKU test
was, and she hadn't remembered having one done for the baby.
She felt a sense of dread. What was wrong with her baby?
"I'm staying at my mother's house here in Jerusalem," she
managed to get out.
"Okay," the voice said. "Have it taken care of right away,
because it's very important."
Devora conveyed the information to her mother, who
immediately went into action. (The baby's father was in
kollel and could not be reached until later in the
day.) Several phone calls later, she found the Tipat Chalav
nearest her home and found out when the baby could be brought
in to retake the test.
First, though, a call was made to the mohel to find
out if it would be okay to do such a test so soon after the
bris.
"You must wait several days," the mohel said
authoritatively. "Since the PKU test involves taking blood
from the baby, it should not be done too soon after the bris,
when he is in a weakened state."
So they waited.
They didn't wait quietly, though. The phone rang at least
several times a day over the next few days with calls from
various members of the health authority.
"Have you had the baby retested yet?" they wanted to know.
Anxiety mounted in the home as the family tried to gather
information on the mysterious PKU test.
They found that PKU stands for phenylketonuria, a
genetic disease that is expressed only if inherited from both
parents. Blood taken from the baby's heel is sent to a lab to
determine whether the baby has the enzyme to metabolize
(break down) phenylalanine, an essential amino acid found in
protein foods such as milk (also mother's milk), cheese and
meat. If the baby lacks this enzyme, phenylalanine builds up
in the blood and can cause brain damage and mental
retardation.
Routine testing of all newborns within two to three days
after birth prevents damage. If PKU is found, the baby can be
given a special formula (along with mother's milk) and a diet
that prevents any adverse consequences of the condition.
In the United States, approximately 1 in 15,000 babies is
found to have PKU. In Israel, routine neonatal screening
began in 1963. The incidence of PKU is about 1 per 10,000.
Devora also learned that when the first test comes back
positive, a retest is done to confirm the diagnosis.
Aside from the baby's parents and both sets of grandparents,
no one in the extended family knew about the need for a
retest. Why worry others needlessly?
The day before the baby was to be retested, Devora received
yet another phone call from a health care professional. This
time, the speaker was a higher authority with broader
responsibilities for the testing. She, too, wanted to know
when the baby was scheduled to be retested. After hearing
that he would be taken to a nearby Tipat Chalav the next day,
she said casually, "You know why he is being retested, don't
you? It's because not enough blood was taken to complete the
first test."
Devora was floored. That was the reason? It wasn't
because he had tested positive?
By now there was too much anxiety floating around the house
for anyone to feel relief. By now, they all knew too much
about PKU to be anything but nervous.
The next day, Devora took the baby for a retest. She held her
baby as the kindly nurse squeezed drops of blood from the
baby's heel onto both sides of four dime-sized circles on the
testing card.
"They said we had to do the test again," Devora explained to
the nurse, "because there wasn't enough blood the first
time."
The nurse nodded as she carefully filled each circle. "Yes,"
she said, "it's fairly common to have to do a retest."
I sure wish someone had told me about that, Devora
thought to herself. She hugged her baby and gave him a
kiss.
Two weeks later, a phone call gave Devora the PKU test
results. The baby was okay. The shadow over their lives
lifted, and Devora's heart filled with an extra measure of
gratitude to Hashem.
