When Lisa Sandoval put her toddler in bed for his afternoon nap on a normal day three years ago, she had no way of knowing that he would have a seizure while sleeping. She also had no way of knowing that the seizure would be caused by an untreated genetic disorder. It never occurred to her that the disorder could have been detected at birth with the use of expanded newborn screening.
Margarette Burnette

Instead, Sandoval returned to her son a few hours later to find him unresponsive, and she frantically called 911.

"We rushed him to the nearest trauma center," the California mom recalls. She had to endure several days of her son's hospitalization, testing and even interviews with local authorities (who initially suspected her of child abuse).

Her son survived, but he was diagnosed with a rare metabolic disorder called Glutaric Acidemia Type 1, or GA1, that prevents his body from breaking down certain proteins. The seizure has left him with cerebral palsy and other complications.

If Sandoval had given birth in another state, her son may have automatically been tested for this disorder as a newborn. When diagnosed, he could have started the only treatment available to him -- a strict vegetarian diet -- that may have prevented his seizure.

"We could have controlled his diet," says Sandoval, but her state did not offer the screening, and she did not know to ask for it.

Newborn screening
Newborn screening is not something new. Since the 1960s, all babies born in the United States have been required to be tested for a genetic disorder called phenylketonuria (PKU).

An infant is pricked on the heel to obtain a blood sample when they are about 48 hours old, usually on the day they are to be discharged from the hospital. The sample is then sent to a state laboratory for testing. Over the years, screenings for additional diseases have become available, but they usually required separate tests. Recently, however, a new technology called Tandem Mass Spectrometry (MS/MS) makes it possible for one blood sample to test for as many as 30 different conditions, including GA1.

Some states are beginning to mandate MS/MS testing as part of their expanded newborn screening programs. Others states limit testing to a smaller number of diseases. To help explain this disparity, Dr Jay Goldsmith, a neonatologist at Ochsner Clinic Foundation Hospital of New Orleans, Louisiana, emphasizes the need to understand the difference between testing and screening.

"'Testing' is when you suspect a disease. There are signs," he explains, "or a family history of disease." When there are signs, as in Sandoval's case, it is obvious that testing is necessary. "Screening," he says, "is independent of any signs. It is really a public health measure to look at diseases." The necessity is not as obvious.

According to the National Institutes of Health, PKU (the most widely screened disorder) only occurs in about 1 of every 14,000 births. Several diseases are even more rare. Other disorders have no known cure. According to a US General Accounting Office study (March 2003), several states choose not to screen for diseases that do not have a cure.

If states do choose to adopt expanded newborn screening, there may be other legal and ethical issues to consider. According to Dr Goldsmith, some diseases may not "present themselves" for several years. That raises the question of whether a positive result would limit a parent's ability to obtain insurance for their infant, even though the disorder would not currently affect the child.

Privacy issues also remain a concern. Families of affected children may be stigmatized if their information is not kept confidential. Additionally, receiving a false positive would cause unnecessary stress to many families.

Sandoval understands these concerns, but her objection is that she was not informed that such tests were even available, much less given the choice to use more comprehensive screening. "I wanted to have a chance to say 'yes' or 'no'," she says. Sandoval turned her disappointment into action. She was one of several parents who wrote California Governor Arnold Schwarzenegger urging him to expand newborn screening.

They received a victory this past summer when he signed a bill that nearly tripled the number of disorders screened, including GA1.

Private lab options
Parents who want to test their newborns for disorders like GA1, but who do not live in states that offer expanded screening, have the option of using private testing labs. Jane Cooper, CEO of Patient Care, a New Orleans, Louisiana patient-advocate company, sees this as part of a larger trend.

"The whole healthcare area is changing," she says. "Individuals are becoming more involved." However, she cautions that there is a cost to this involvement. As more patients determine their medical direction, they will have to be more willing to "pay out of their own pocket," she explains.

Cooper, whose company helps patients solve billing and insurance issues, believes this trend will continue. Private screenings can cost up to $90 and may require a separate visit to a pediatrician. Sandoval believes the test is worth it, even if it is not covered by insurance. To date, she estimates that her son's medical expenses have totaled nearly $700,000.

Understanding the results
There may also be an emotional cost to expanded newborn screening. Dr Stephanie Hassel, an Atlanta, Georgia pediatrician, advises parents to make sure they are emotionally ready to receive a positive result. "Parents should be comfortable with whatever the outcome of the tests are," she says, "even if there is no cure." If parents do receive a positive result, experts emphasize that they should keep calm.

"First, do not panic," advises Dr Goldsmith. "Second, go to the pediatrician, have a retest and make sure you get the results."

The odds are that the initial outcome is a false positive. Results are generally sent from state laboratories directly to the pediatrician's office, so it should be the pediatrician who calls the parent. However, mix-ups can happen, so mothers and fathers should proactively ask their child's doctor about screening results.

Donna Upchurch of Alpharetta, Georgia, is the mother of a toddler who was diagnosed with GA1 after an expanded newborn screening test. "I had never heard of metabolic disorders," she recalls. She received the private screening kit while banking her infant's cord blood. Her pediatrician administered the test, and Upchurch was surprised when it came back positive.

Her daughter was retested and Upchurch was eventually put in touch with specialists who put her baby on a strict diet. Now, her daughter is two years old and thriving. "She's perfectly normal," says Upchurch, except for her diet. The mom encourages families to be informed about expanded newborn screening tests. "Everybody should have a choice. Everybody should be aware," she maintains. "It is to your child's benefit."

More Information
March of Dimes -- www.modimes.org

American Academy of Pediatrics -- www.aap.org

To determine which screening tests are offered in your state, visit the National Newborn Screening and Genetics Resource Center -- http://genes-r-us.uthscsa.edu

Pediatrix (private testing lab) -- www.pediatrix.comPregnancyAndBaby.com

Tags: tests

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