WSJ:The Toughest Test
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OCTOBER 25, 2008
The Toughest Test
By GAUTAM NAIK
GRAND RAPIDS, Mich. -- When Jennifer Carden was told that her unborn
child had a rare and potentially fatal genetic condition two years
ago, she was convinced that the diagnosis could be wrong and the baby
might survive. Her doctors and husband disagreed. They tried, but
failed, to persuade her to terminate the pregnancy.
The Cardens' baby, Parker, was born on Valentine's Day 2007, and
doctors said he had a kidney disease that often kills infants in their
first year. But Parker survived and is now 20 months old. He has poor
language and motor skills and may never walk. Already hospitalized
three times, Parker's medical odyssey has stretched the Cardens'
finances and put a huge strain on their relationship.
Thanks to ultrasound technology and the advent of amniocentesis in the
U.S. about four decades ago, doctors have long been able to get basic
information about the genetic and biochemical status of a fetus. Now,
major strides in prenatal diagnosis are providing a clearer window
into the womb, yielding extremely detailed data about the health of
the fetus.
This has allowed couples to prepare for the birth of a child with
special needs, or, in some cases, intervene to improve the health of
the fetus. It also means more couples face difficult choices about
whether to continue a pregnancy.
Many conditions diagnosed prenatally are rare and their genetic
underpinnings still poorly understood. Most physicians have little or
no genetics training. In some cases, doctors can diagnose an illness
but struggle to predict how it might unfold or how long a baby will
survive.
More than eight years after the human genome was deciphered, advances
in genetic knowledge are moving from lab to clinic, altering the
practice of everyday medicine. In addition to expanded prenatal
diagnosis, for example, most states have increased routine screening
for rare genetic disorders in newborns. More couples with family
histories of genetic ailments are getting tested before trying to have
children of their own.
As such tests proliferate, pregnancy could become an increasingly
medicalized -- and anxious -- experience. In an essay published last
year in the medical journal Lancet, Evelyne Schuster, of the Office of
Medical Ethics at the Philadelphia Veterans Affairs Medical Center,
wrote: "Prenatal genetic screening allows parents to take on the role
of gene police, and to erect a roadblock at which they search and
examine their children-to-be before birth."
On Oct. 1, 2006, when Jennifer Carden was 19 weeks pregnant, she went
for a routine ultrasound at a hospital near her home in St. Clair
Shores, Mich. The doctor told Mrs. Carden and her husband, Charles,
that the fetus had enlarged kidneys and a portion of the brain was
thickened.
According to the Cardens, the doctor told the couple that their window
to terminate was small -- just five weeks -- and recommended they see
a specialist to confirm the diagnosis via another ultrasound and an
amniocentesis. The diagnosis: A potentially fatal genetic disorder
called autosomal recessive polycystic kidney disease.
Mrs. Carden, now 31 years old, contacted the ARPKD/CHF Alliance, a
patient group based in Kirkwood, Pa. She learned that ARPKD is a rare
disorder and poorly understood condition; genetic tests for it became
available only a few years ago. The disorder occurs in about one in
20,000 individuals, and up to 75% of babies afflicted with it die in
the first year after birth. After that, their chances of survival are
good. But more than one-third need dialysis by the age of 10.
A year later, in a blog called "Our Family Whirlwind," Mrs. Carden
recalled how she wrestled with the diagnosis: "It wasn't until I
started reaching out and met other families who had children like
Parker that things started to look up a little. I knew there were
shades of gray and there had to be some hope for us."
The Cardens already had a tumultuous family life. Each had an 8-year-
old son from a previous relationship, and Mrs. Carden's first boy
lived at the Carden home. The Cardens also had a child of their own,
Jackson, then a year-and-a-half old, who was recovering from major
abdominal surgery needed to stave off a life-threatening intestinal
blockage. A few months earlier, Mr. Carden had moved 150 miles away to
Grand Rapids to take a sales-training job with J.P. Morgan Chase & Co.
His wife planned to join him later.
The prospect of having another seriously ill child and the additional
financial burden worried Mr. Carden. He suggested the couple terminate
the pregnancy and try to have another child. When he first broached
the idea during a kitchen conversation with his wife, Mrs. Carden
flung his dinner plate into the sink and said: "I won't terminate.
It's a marriage breaker."
Looking back at that difficult period, Mr. Carden, 32, says: "It was
about the fear of having a baby we'd lose. I didn't know how our lives
would be affected."
His wife, who is Catholic, had other reasons for wanting to see the
pregnancy through. When she was 18 and unmarried, Mrs. Carden had an
abortion. She says she still felt guilty about it, and that was
another reason she didn't want to go through the procedure again.
The pressure to do so, though, was intense. She later wrote on her
blog: "I felt completely robbed of my pregnancy. Every ultrasound was,
'We don't know if [your] baby will be alive the next time we see you.'
This continued every two weeks for the rest of my four months of being
pregnant."
But Mrs. Carden became determined to see the pregnancy through. To
save money, the couple let go their house cleaner and agreed to accept
financial help from their families to pay for groceries. They also
began to fight a lot more. If Mr. Carden phoned from work, his wife
wouldn't answer or would hang up. She occasionally told him to not
bother coming home at all.
Mr. Carden worked late to avoid coming home. "We got to talking about
separation and divorce," says Mrs. Carden.
Her husband adds: "We were sleeping back-to-back."
The doctors scheduled a Caesarean section for the baby, because they
felt the baby might not survive if allowed to go to term. About a
month before the birth, Mrs. Carden says a pediatric specialist in
kidney disease told the couple to "prepare for a rough ride," saying
that the baby would likely be on a ventilator right after birth. On
the drive back from that meeting, she called a local church to inquire
about last rites for a newborn. She also called her insurance company
to see if her yet-unborn child could be added to her life-insurance
policy, so that the burial costs would be covered.
At 8:14 a.m. on Valentine's Day in 2007, while St. Clair Shores was
under 10 inches of snow, Parker was born. Though the neonatal
intensive-care unit was standing by, the baby's condition was stable.
He was fed a special formula and, three days later, the Cardens took
him home. That April, Mrs. Carden and the rest of the family joined
her husband in Grand Rapids. "We had to learn to live with each other
again," she says.
In August 2007, Parker's condition began to deteriorate. His kidneys
couldn't hold on to nutrients, so he'd get dehydrated and had to drink
two liters of water a day. He rarely slept through the night. He
picked up infections and was often on antibiotics. He would eventually
need surgery to install a feeding tube.
On New Year's Day this year, Mrs. Carden wrote in her blog: "My
marriage made it through another year...today is our anniversary."
Referring to her husband of four years, she added: "Through it all, we
are still best friends and I have learned to lean on him when I need
to -- not take it all on myself."
Parker was born on the same day as a child in Virginia who had also
been diagnosed with ARPKD. Mrs. Carden learned about the boy through
the patient group and stayed in contact with his mother. She called
their sons' shared birthday a "Valentine bond." But in March, the boy
in Virginia died. Mrs. Carden says it was a stark reminder about "the
mortality of Parker's condition."
It remains far from clear what exact genetic ailment Parker has. The
National Human Genome Research Institute, part of the National
Institutes of Health, is overseeing a clinical trial to better
understand and seek a cure for an entire range of polycystic kidney
diseases, which are among the most common inherited genetic
conditions. The Cardens have agreed to participate once Parker is
stable enough to make the trip to Bethesda, Md.
Meral Gunay-Aygun, a pediatric geneticist at the NIH involved in the
trial, says several patients in the trial had problems similar to
Parker's at birth, such as breathing difficulty and large kidneys, but
went on to do far better than doctors predicted. Many made it safely
to adulthood; some didn't even require dialysis.
"Advanced imaging means we can identify more patients prenatally,"
says Dr. Gunay-Aygun. "But the data we're using to determine these
children's fate is outdated. There's the discrepancy."
Indeed, it turns out Parker doesn't have ARPKD, according to his
current geneticist, Helga Toriello of Spectrum Health Hospitals in
Grand Rapids. She says Parker doesn't have any of the classic signs of
ARPKD -- high blood pressure, an abnormal liver and multiple cysts in
the kidneys. She says it's unclear what Parker has.
"Prenatal diagnoses are subject to the interpretation of the person
doing the ultrasound," says Dr. Toriello. "There are cases where
things are missed or misinterpreted."
Still, in the past few months, doctors have told the Cardens that
their son now has about 60% of his kidney function. Because Parker may
never walk, his mother has ordered a wheelchair. His life is a series
of appointments, including physical therapy, occupational therapy,
feeding therapy and language therapy.
But every now and then, Mrs. Carden grows more hopeful. In August, she
saw her son push himself up into a sitting position. It was the first
time he'd managed it entirely by himself.
"This is so big, big, big!!" she wrote on her blog. "He was a little
surprised -- but every time he does it he looks at me and smiles."
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