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."
