One in a Million ®

NORD raises awareness of rare diseases by telling the stories of affected individuals and families. In these “One in a Million” stories, we hope to communicate that every life is important and no disease is rare when it affects someone you love.

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Jana Monaco

Jana Monaco’s career as an advocate began the day she realized that her son Stephen’s ordeal was preventable. If Jana and her husband, (name), had known that Stephen was born with a metabolic disorder, they could have taken steps to stabilize his condition. If the problem had been detected when Stephen was first admitted to a hospital at age three and a half, the outcome might have been better.

“But you can’t play the finger-pointing game,” Jana says today. “They (the medical staff at the hospital) didn’t know. So all you can do is work to raise the standard of care.”

Jana and (husband) have four children, the youngest two of whom have isovaleric acidemia. This is a disorder in which the body is unable to metabolize certain proteins properly because of an enzyme deficiency. In about half of the cases, the problem becomes apparent soon after birth and symptoms include vomiting, seizures, and lethargy. In other cases, like Stephen’s, signs and symptoms don’t appear until later.

This disorder is inherited in an autosomal recessive pattern, which means that both parents of the affected child carry an altered gene. However, the parents may not display any signs or symptoms, and often are unaware of any potential problem.

This was the case for the Monacos. They thought Stephen had a stomach bug when he first became ill six years ago. They took him to their local community hospital.

Instead of a minor gastrointestinal flare-up, however, Stephen was actually experiencing a metabolic crisis. By the time his illness was diagnosed, brain damage had occurred. He spent four weeks in an ICU in Virginia and then was transferred to the University of Virginia, where he spent an additional six weeks.

Today, Stephen is severely disabled. He’s in a wheelchair, doesn’t speak, and is fed through a gastrostomy tube.

For Jana, one of the most painful parts of this ordeal is knowing that an earlier diagnosis might have led to a better life for Stephen. “Once you learn what the problem is, you look back and the signs were there: picky eating, strange odor, and so forth,” she says. One characteristic feature of isovaleric acidemia is a “sweaty feet” odor, caused by the buildup of isovaleric acid in affected individuals.

However, the lessons learned through Stephen’s ordeal did lead to a better life for his younger sister, Caroline. Less than a year after Stephen’s crisis, Jana learned that she was pregnant again. This time, prenatal screening for isovaleric acidemia was performed. The test was positive.



Armed with this knowledge, the Monacos and their medical team were able to take steps to stabilize the new baby’s condition before a crisis occurred. Labor was induced and the infant, Caroline, was transferred to the Neonatal Intensive Care Unit at Children’s Hospital in Washington, DC, where physicians with expertise on her disorder cared for her from the start.

As a result of this early diagnosis and preventive care, Caroline’s life has been very different from Stephen’s. She has been spared the kind of metabolic crisis that Stephen endured.

Meanwhile, armed with this knowledge, Jana has become an advocate for newborn screening. When Stephen was born, the state of Virginia (where the Monacos lived) required screening for eight disorders. Today, thanks in part to Jana’s advocacy, screening is performed for 29 disorders in Virginia. This includes all the disorders recommended for screening by the American College of Medical Genetics.

In a recent email to friends, Jana noted that since the screening in Virginia was expanded in March 2006, 22 babies have screened positive for the newly added disorders, in addition to 21 who tested positive for the original disorders. “It is much more than anticipated. The work has been worth it!” Jana wrote.

She also serves on a Health Resources and Services Administration (HRSA) Advisory Committee, which recently recommended that all states should notify parents of the option of expanded screening. Many parents don’t realize that they can request additional screening for their infants, beyond what their states require.

In addition, Jana is involved in a program called LEND through the Children’s Hospital in Washington. Through this program, she and others help teach graduate students in the health professions what it’s like to care for a child with disabilities.

“This doesn’t change anything for us, but it brings a little peace to know that we’re helping,” Jana says.