Simple Test Can Detect Babies’ Rare Diseases

The mother’s story mixes heartache with anger: Her seemingly healthy 8-month-old baby died suddenly one morning. No warning, just a panicked phone call from the baby-sitter that Jim had quit breathing.

Doctors called it Sudden Infant Death Syndrome. But Jamie Lazzaro later discovered her baby instead had suffered from a genetic metabolic disease--a treatable one, if only the hospital had run a simple $25 test to detect it when Jim was born.

Few hospitals test newborns for a group of 30 rare but devastating metabolic diseases, although experts say diagnosis at birth might prevent several hundred deaths and life-threatening illnesses a year.

For many, staying healthy can be as simple as a special diet.

“It’s a bitter pill to swallow,” Lazzaro says. “If there was a test, then why didn’t we get it?”

That’s a question more people may be asking soon. As scientists complete mapping of the human genome later this year, they’ll be poised to develop countless new tests to detect rare diseases before symptoms appear.

But just because a test is determined valuable doesn’t mean doctors quickly embrace it.

Consider the inherited metabolic diseases, which have such tongue-twisting names that many go by acronyms like VLCAD and MCAD.

Most are fatty acid oxidation disorders, in which patients lack enzymes that change stored fat into energy. If patients go longer than about eight hours without eating or catch an illness that causes vomiting, they can suddenly die. Undigested fats also clog their hearts and livers.

Affected babies appear healthy at birth. But the first attack sometimes is lethal, and early childhood is the riskiest period.

Every state now tests every newborn for two rare diseases that cause retardation if untreated: hypothyroidism and the metabolic disease phenylketonuria.

Now, using technology called tandem mass spectrometry, doctors also can test for these 30 other metabolic diseases. It requires just a drop of blood, costs less than $25 and takes mere minutes.

But it does require special training and a $400,000 machine.

Plus, many doctors know little about metabolic diseases, or that they’re treatable. They are fairly rare, altogether thought to strike one in 5,600 babies.

“It’s been a hard road” to persuade states to add the tests to standard newborn screening, said Dr. Charles Roe of Baylor University Medical Center in Dallas.

“I find this very difficult to deal with. . . . These are unnecessary deaths,” Roe said.

Added David Millington, who along with Roe developed the test at Duke University: “It’s the most useful test ever done on most people at birth, by far.”

Hospitals in North Carolina, Massachusetts, Wisconsin, South Dakota and Texas have begun offering supplemental testing for metabolic diseases. Some Pennsylvania hospitals hire Pittsburgh-based Neo Gen Screening for testing. Parents also can seek testing on their own.

That’s how Jamie Lazzaro learned VLCAD killed her baby. When Jim was 8 months old, he vomited one night but seemed OK by morning. Hours later, he died while napping. The pathologist noted a puzzling enlarged heart but termed the death SIDS.

A year later, pregnant again, the Louisville, Ky., woman learned about metabolic diseases and wondered. She sent Jim’s medical records to Roe, who said about 3% of SIDS cases turn out, like Jim’s did, to be a metabolic disease gone undiagnosed. Post-mortem diagnosis is important--it signals that other children in an affected family need testing.

What’s a parent to do?

Ask if your hospital offers supplemental metabolic testing, Roe says. If the hospital doesn’t, parents can get more information about the diseases or how to seek a test by calling (800) 4-BAYLOR or by checking https://www.neogenscreening.com. Check https://www.fodsupport.org for information for affected families.

And stay tuned, because tandem mass spectrometry is powerful enough that as treatments become available--a requirement for routine testing--more tests can be easily added.

It “is going to really revolutionize newborn screening,” said Neo Gen Screening President Edwin Naylor.