The Test That Saved My Baby's Life

Screening every newborn for rare genetic diseases can seem unnecessary and invasive -- unless your child is the one who is diagnosed.

One little prick in an infant's heel can give his doctor crucial health information.

When it comes to making choices about her family's health, Korissa Olson admits that she tends to be cautious. She prefers to buy organic food and to use natural remedies whenever possible. "I'm always aware of what we are putting in our body," says the professional singer from Brooklyn Park, Minnesota. So when she was about to give birth to her second child in April 2008, she and her photographer husband, Darren, decided to skip the heel-prick blood test in the hospital that would screen their newborn for extremely rare illnesses. "I figured that I'd had a perfectly normal pregnancy, and we had no known diseases in either of our families."

What's more, someone at church had given her a pamphlet that had soured her on the idea of newborn screening. Distributed by a grassroots organization that she never knew the name of, the flier warned that the state's screening for diseases was an invasion of personal privacy. It said that spots of babies' blood are stored on paper cards by the Department of Health -- and claimed that the state might use a baby's DNA for research or even maintain the genetic information so that it could become the basis for future discrimination. "My ears prick up when I hear things like that," Olson says.

But she is still stunned by what happened after her son Everett was born. At the last minute, she changed her mind and decided to let him be screened. Everett was found to have a potentially deadly genetic disorder -- a 1 in 60,000 fluke -- that has no obvious symptoms at birth. Thanks to a surprisingly simple treatment, he is now a healthy toddler. "I have no doubt that the test saved his life," says Olson.

Every year, state health departments screen the blood of more than 4 million newborns for an array of serious diseases. Although the heel-stick test is routinely given to all babies in the hospital -- and a few drops of their blood are placed on a paper card and later analyzed -- parents in every state except Nebraska can request that their baby not be screened. Now, activist groups around the country are frightening expectant parents by waving the red flag about privacy issues. "These groups are not large in number, but they seem to be increasingly vocal and fairly well organized," says Mark McCann, director of the newborn screening program in Minnesota. With fliers, petitions, and hearings before state legislatures, they've already posed a threat to what's arguably been one of the most successful public-health programs in recent history.

Next: Crucial Clues

Crucial Clues

Thanks to newborn screening tests, each year nearly 12,000 babies who have a serious or life-threatening disorder are diagnosed in time to be treated. (In fact, one of the criteria that a state typically uses when deciding whether a disease should be included in its screening panel is whether there's an effective and affordable treatment.) All 50 states and the District of Columbia now require that every baby be screened for 21 or more of the 29 disorders on the uniform panel recommended by the American College of Medical Genetics. Parents are probably familiar with cystic fibrosis and sickle cell anemia, but other conditions are so rare that you may never have heard of them. The majority are metabolic disorders, in which babies lack a critical cellular function needed to break down, store, or use vital nutrients. Without those nutrients, babies can suffer seizures, organ failure, and even sudden death. "With many of the diseases we screen for, a baby seems perfectly normal at birth," says Parents advisor Jane Morton, M.D., clinical professor of pediatrics at Stanford University School of Medicine. "By identifying the disease quickly, we can prevent serious problems that could cause irreversible damage to the baby."

Doctors can prescribe drugs or supplements, or make careful modifications to a baby's diet that mean the difference between life and death. For example, with one metabolic disease -- phenylketonuria, or PKU -- babies lack an enzyme that converts the amino acid phenylalanine to another amino acid. As a result, this protein building block rises to toxic levels and can cause mental retardation. But if PKU is diagnosed within days of birth, a child will be put on a special infant formula and, later, a rigorously monitored diet that is low in meat, cheese, and legumes that contain the problematic amino acid.

Even though diseases like PKU are caused by genetic abnormalities, the heel-prick test doesn't actually look for faulty genes. It identifies elevated levels of biochemical markers within the dried spots of a baby's blood that indicate a biological process may not be working quite right. An abnormal result won't provide a definite diagnosis, but means a child should have more specific follow-up tests. When parents pass along faulty genes, they usually don't have symptoms of the disease themselves or know of similar conditions in their genealogy. "In more than 90 percent of cases, an infant's diagnosis comes as a complete surprise to the family," says Amy Gaviglio, a genetic counselor with the Minnesota Department of Health.

Parents on Both Sides of the Fence

Since newborn screening began in the 1960s, parent advocacy groups have played a pivotal role in its expansion. As technology has become available to detect additional diseases, they've lobbied state legislators and health commissioners to include new screens. They pushed, for instance, to get cystic fibrosis added to California's screening panel, which now tests for 76 disorders and is one of the country's most comprehensive. "Many of the parents who have worked the hardest to draw attention to a particular condition had already lost a child to that disease, but they didn't want other families to have to go through the same heartbreak," says Catherine Camacho, deputy director of California's Department of Health.

However, other parents feel just as strongly about limiting universal screening. In Minnesota, the Citizens' Council on Health Care has suggested that newborn screening may represent "the new eugenics," and lobbied the legislature to require that parents sign informed consent papers before the test is done. "We want parents to decide whether they want the state to have genetic information about their child," says Twila Brase, a nurse and president of the organization. The group has also pushed to get the state to destroy the cards with babies' blood spots after screening is done. It claims that "government warehousing" and sharing of newborn blood samples with researchers makes citizens "involuntary subjects of genetic research" and poses the possibility that a genetic flaw, even one not detectable by today's technology, could be used in the future by a company to deny an individual health insurance. A group of parents has also filed a lawsuit against the Minnesota Department of Health claiming that the storage of blood spots violates the state's Genetic Information Law. Although it was dismissed last November, at press time the parents were preparing an appeal. A similar suit was filed in Texas, where a group of parents claimed that it was unconstitutional for the state health department and Texas A & M University to store babies' blood spots and provide them to researchers without getting parents' explicit consent.

State health departments, already sensitive to patient privacy issues, have been quick to point out that blood spots are kept under lock and key. Most specimens are securely stored with only basic demographic information about the mother and child included with them. "These stored blood spots are invaluable because we can seek parental permission to use them to develop tests for new diseases," says Piero Rinaldo, M.D., Ph.D., a pediatrician and geneticist at the Mayo Clinic, in Rochester, Minnesota, who's one of the leading experts developing the technology to screen for metabolic disorders. Recently, his team used an 18-year-old blood sample to verify a new test for Wilson's disease, a rare genetic condition in which too much copper is absorbed in the liver. It can be symptomless in infancy but is always fatal when it appears out of the blue in adolescence. However, if a child with Wilson's disease is diagnosed at birth, she can take medicine to limit copper absorption and avoid eating copper-rich foods.

If states pass restrictive laws, health officials are worried that this kind of important medical research will be jeopardized and screening programs themselves may be threatened. "When you require informed consent as opposed to an opt-out, fewer babies are going to get screened and then we will risk losing children," says McCann. Right now, Nebraska is the only state where screening is absolutely mandatory; if parents refuse to participate, health officials come to their house to ensure screening takes place. Dissenters have sued, and the case has gone to the state's Supreme Court, but the law has been upheld.

Experts are also concerned that the publicity surrounding these cases will cause more parents -- even health-conscious ones like Korissa Olson -- to avoid having their children screened. Since the lawsuit was filed in Texas, a small number of parents have asked to have their baby's blood-spot cards destroyed, and the state honored these requests. In California, the number of parents who have opted out of screening in the last year has risen slightly, and so has the number of parents who have requested that their baby's specimen be destroyed. Approximately 600 families in the state now refuse screening each year. While that is only a small fraction of the annual 560,000 births in California, statistically it's almost enough to miss one child a year who has a serious condition. Just recently, one of the families who refused screening had a newborn with PKU that went undetected -- and as a result, the child now has severe mental retardation.

Next: A Lucky Find

A Lucky Find

Everett Olson was indeed fortunate that his mother had a change of heart. Even though she had initially turned down the screening, a nurse returned to Olson's hospital room three times to gently ask if she'd like to reconsider. Olson had been worried about her son getting any type of medication, including the antibiotic eyedrops that are routinely given to newborns. When the nurse pointed out that nothing harmful would enter Everett's body during the heel-prick test, she finally consented. "I believe God told me it was the right thing to do," she says.

The test was sent to the state health department, and his mother forgot about it. Everett seemed perfectly healthy as he got the hang of breastfeeding, so five days after her son's birth, Olson was caught off guard when the pediatrician told her at his first checkup that the screening suggested he might have galactosemia, a very rare inherited condition that interferes with a child's ability to break down the sugars in breast milk and most formulas. "I didn't believe it," she says. "I figured it was a false positive." She made an appointment to have Everett tested with a more conclusive blood test, but that very afternoon he became lethargic and jaundiced. "Then I wasn't able to wake him up," she says.

Everett was admitted to the neonatal intensive care unit, and his liver enzymes were found to be dangerously high. At such elevated levels, he was at risk of complications that could easily destroy his liver, wreak havoc on his kidneys, and cause brain damage. But because he had a tentative diagnosis from the newborn screening, doctors were able to bypass a long list of diagnostic tests to figure out what was wrong. Instead of treating the condition as jaundice, which would call for more intensive breastfeeding to help reduce levels of bilirubin in the blood, they urged Olson to stop nursing because the milk was acting like a poison. Over the next few days, as the diagnosis of galactosemia was confirmed, doctors were able to lower his liver enzymes to a normal range and prevent any damage to his organs. They switched Everett to an amino acid-based formula specially designed for children with conditions like his. The Olsons were shocked to learn that when galactosemia doesn't get diagnosed or treated, 75 percent of babies with the disease will die.

Today, laughing and wrestling with his father in his family's suburban home, 23-month-old Everett looks like the picture of health. For the rest of his life, he'll adhere to a diet avoiding milk and milk-based products (as well as legumes and tomatoes, which contain smaller amounts of the same sugar that's in milk), and he'll have his liver enzymes and blood levels monitored. Olson meticulously reads labels for unexpected dairy-derived additives in foods that could give him trouble. She, her husband, and their 4-year-old son, Emerson, have now all been tested and found to be carriers of the gene that causes galactosemia -- which Olson feels will be helpful for Emerson to know when he's interested in having children of his own some day. Looking at Everett, and knowing how differently things might have turned out without the newborn screening, she marvels, "It's amazing how a simple test could impact our lives in such a powerful way -- if the diagnosis was even one day later, Everett's outcome could have been very different. We can't believe how much joy he has brought to our lives."

Support Screening

Six years ago, the March of Dimes -- a longtime advocate for the prevention of birth defects -- became a national force in favor of newborn screening. At the time, living on one side of a state line could mean having access to tests that weren't available in an adjacent state. The organization's campaign initially pushed for all states to test for ten diseases. Now they're working to make sure they test for all 29 recommended disorders (see a state-by-state report card at "If your state already tests, it's still important to contact your governor and state legislators and tell them you want them to protect funding for the newborn screening program," says Jennifer L. Howse, Ph.D., president of the March of Dimes.

Originally published in the March 2010 issue of Parents magazine.

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