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Fall 2008

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	More of Singh’s patients are developing normally because they have been on a specialized diet practically from their first meal.

Newborns with metabolic disorders struggle not only for insurance coverage but also their lives.
By Valerie Gregg

It’s the news no one wants to hear just after they’ve given birth: their new baby has a genetic disorder. With some of the disorders, the infant most likely will suffer severe mental retardation or even die without rigid dietary restrictions or special foods.
     Then, imagine that the news gets worse. The insurance company won’t cover the necessary special food, and the family has to come up with thousands of dollars for formula—an unanticipated expense it can’t cover.
     For more than 15 years, Rani Singh, a mother herself, has witnessed this scenario too many times. As director of the nutrition program at Emory’s Genetics Metabolic Clinic, she has helped parents through the maze of managing their children’s genetic metabolic abnormalities such as phenylketonuria (PKU), galactosemia, or maple syrup urine disease (MSUD). These disorders affect the way the body processes food into energy. For many years, she saw children in the clinic who were diagnosed too late, after their brains were irreversibly damaged.
     States began screening newborns for a few metabolic disorders in 1962. Today, every newborn in Georgia is screened for more than 50 genetic metabolic conditions. As a result, Singh watches more of her patients develop normally because they have been on a specialized diet for their condition practically from their first meal.
     “It’s a joy to see these children come in at ages 2, 5, and into their teenage years and see that they are completely normal,” she says. “That is possible only with special formulas and medical and modified foods as well as very close management of their diets.”
     Singh and her colleagues have worked diligently for more than a decade to make sure that Georgia screens all newborns just after birth for genetic abnormalities. Efforts like this have helpd make Georgia a leader in this area. Recently, the state received a sensitive new technology called tandem mass spectrometry provided by the March of Dimes. The technology can detect more than 50 genetic disorders, the majority of which are treatable with nutritional intervention. Georgia’s state health department made this testing available to every infant in the state in January 2008, with Emory playing a pivotal role in ensuring that affected children are appropriately diagnosed and entered into proactive treatment.
     Babies in other states have been less fortunate, but that is changing rapidly. This past year, Singh and her team received a $1 million grant from the U.S. Health Resources and Services Administration (HRSA) to bring consistency in genetics testing and treatment to the Southeast Genetics Collaborative. The group comprises southern states, the U.S. Virgin Islands, and Puerto Rico.
     The effort ties in with Emory’s emphasis on prevention and the university’s Predictive Health Institute, Singh says. “We predict the disorders with genetic testing, then prevent the actual disease state through clinical care and personalized nutritional intervention. When we used to see these kids who were already damaged or sick, we were very much in reactive mode. Now we have an opportunity to be proactive, pick up these kids before they are symptomatic, to prevent and possibly arrest their disease.”

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	Metabolic disorders affect the way the body processes food into energy. Eating too much meat, poultry, fish, or dairy products can lead to brain damage or even death.

After the entree

    The staples of childhood—chocolate milk, barbeque chicken wings, and hotdogs—are off limits for children with most of the common metabolic disorders. PKU, MSUD, and isovaleric acidemia all affect how the body breaks down protein. Eating too much meat, poultry, fish, or dairy products could mean irreversible brain damage or death. Patients must adhere to a low-protein diet consisting mainly of medical formula, fruits, and vegetables for the rest of their lives.
     As if a meticulously controlled diet wasn’t bad enough, finding good primary care for these children after they become adults is nearly impossible, Singh says. When many of her patients grow up, they simply continue to come to the Emory genetics team for follow-up because there is nowhere else to go.
     Additionally, there are no consistent published treatment standards for adults with these disorders. Emory is leading regional and national efforts to change that. After serving as a key member of the HRSA Southeast Genetics Collaborative committee on newborn screening and long-term follow-up, Singh recently was asked to work on a national HRSA group to standardize newborn genetic data collection throughout the country.
     Moving beyond newborn testing to treatment is her current challenge. Ideally, treatment should be accessible to every patient in all 50 states, and legislation would require health insurers to pay for medical foods with specialized formulas and modified foods. Singh hopes to make nutrition treatment for children and adults more consistent and available, regardless of their insurance situation.
     That, however, is a tall order. After the initial diagnosis, patients with metabolic disorders need extensive follow-up: ongoing parental education about diet, frequent and regular visits to the clinic for babies, further testing and diagnosis, treatment, nutritional management, evaluation, and continued nutritional education and neurologic testing throughout life. “As state newborn screening programs expand their screening panels to include more conditions, it is imperative to have functioning, long-term follow-up programs in place,” argues Singh in an abstract recently submitted for publication.
     Currently, follow-up care and treatment programs are few and far between. “A lot of funding has gone into the screening process, but now we must concentrate on the huge gap in what happens afterwards,” Singh says. “We’ve come a long way, but we still have far to go.”

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	Finding good primary care for children with metabolic disorders as they grow into adults is difficult, so they continue to see pediatrician Rani Singh and the Emory genetics team.

A full-course plan

Pediatricians often don’t understand metabolic disorders, according to Singh, and neither do health insurers. Required medical foods for these disorders cost an average of $7,000 a year. Many insurance plans don’t consider the special medical foods to be medicine and consequently fail to cover them. With no national medical policy in place for insurance coverage of medical foods, policies vary widely from state to state. Some states have laws requiring insurers to pay for this medical food as a pharmaceutical product, but most do not.
S     ingh and others at the clinic often run interference between insurance companies and patients to get coverage for a portion of the special diets. “Just because nutrition is the main medical intervention doesn’t mean it isn’t a pharmaceutical need,” she says. “Nutrition can arrest the disease and completely stop it from progressing. It’s terrible that we can predict the disease and prevent it, but we cannot give care because of insurance.”
     Singh is drawing on the power of numbers to address that challenge. The Public Health Informatics Institute, an Emory partner, and others figure largely in her long-term plan for following newborns who test positive for genetic metabolic abnormalities. The local, nonprofit institute is helping develop a long-term informatics program to process data on the infants collected in the Emory metabolic disorders clinic over months and years. Tracking treatments and outcomes will help researchers develop models for best practices for long-term treatment.
     “This is a chance for us to catch up with the clinical history of this disease, how it progresses over a lifetime,” says Singh. “We also hope to work with informatics to come up with a uniform process for every baby diagnosed. We’re proposing a model to diagnose the baby, confirm the diagnosis, and then standardize treatment and management.”
     In the past, PKU, MSUD, and other similar conditions were like genetic natural disasters ready to wreak havoc as soon as a baby’s first meal. Soon, through a combination of informatics, changes in national health policies, and passionate work by researchers and clinicians, they may be digested and shut down before they ever start, giving kids the chance to live to be healthy adults.