PWCS mother advocates for support of children with rare diseases
Posted on 07/02/2019
Jana and her husband with their children Stephen, Nicholas, Alexander, and Caroline at church.Jana Monaco was advocating for an accessible playground for PWCS students long before she knew it would benefit her own son, Stephen. Her two older sons, Nicholas, now 28, and Alexander, now 25, attended Lake Ridge Elementary School, giving Jana an opportunity to be involved. She frequently had her then toddler, Stephen, with her during her frequent visits.

As a substitute teacher and active volunteer parent at Lake Ridge Elementary School, Jana said, “Stephen went with me all over the place in PWCS. He would try out the playground equipment. He was my tester.”

Jana said that although Stephen was a picky eater, he was a very healthy toddler. But that all changed very quickly. When Stephen was 3 ½ years old, he became very sick.

The evening after Memorial Day, Jana said she put Stephen to bed, and she believed, based on the symptoms, that Stephen had a stomach ache. When she entered Stephen’s room the next morning, she found him unresponsive in his crib.

Stephen was rushed to the hospital, where he experienced several seizures and slipped into a coma. Doctors told them if Stephen survived, he would never be the same. Stephen’s condition perplexed the doctors, but after multiple tests, the Monaco’s would receive the heartbreaking news – Stephen was diagnosed with isovlaeric acidemia, a rare metabolic disorder affecting one in 250,000 people in the United States.

According to the National Organization for Rare Disorders (NORD), “isovaleric acidemia (IVA) is a type of organic acid disorder in which affected individuals have problems breaking down an amino acid called leucine from the food they eat.” Symptoms can range from very mild to life-threatening.

In Stephen’s case, IVA caused brain damage, confining him to a wheelchair. Jana praised the support of the Lake Ridge Elementary School community while the family experienced this very difficult time. She said they provided meals and encouragement.

More devasting than Stephen’s diagnosis is the fact that his symptoms and subsequent serious health issues could have been prevented by a newborn screening tool. Not long after Stephen’s diagnosis, Jana learned she was pregnant. At that time, she learned that both she and her husband Tom carried the gene that could cause the illness in their new baby.

Armed with critical information, they prepared for their baby girl’s arrival by planning an in utero screening. Their new daughter, Caroline, also had IVA, but because they were able to begin treatment immediately, “Caroline is a child growing up and thriving with this condition,” Jana said. Caroline attended Lake Ridge Elementary and Lake Ridge Middle School, and will begin her junior year at Woodbridge High School this fall. She loves horseback riding.

After Caroline was born, Jana made it her personal mission to ensure other families were spared from the preventable and unfathomable situation her family endured. She began to lobby for the expansion of newborn screenings to include IVA.

“A baby’s fate was determined by the state they live in,” she said. “When Stephen got sick, this all came to the forefront.”

In 2005, Jana shared her family’s story and convinced a state delegate to sponsor a bill, which was later signed by Governor Mark Warner, expanding the number of conditions for which newborns are screened from 9 to 29 in Virginia.

Jana also served for nearly six years as a member of the Advisory Committee on Heritable Disorders in Newborns and Children, which is a federal advisory committee in the Health and Human Services Administration. This Committee recommends to states that every newborn screening program include a Uniform Screening Panel that screens for 35 core disorders and 26 secondary disorders. Her advocacy work also contributed to the passage of the Newborn Screenings Saves Lives Act, which was signed into law in 2008.

For the past 11 years, Jana has served on the Children’s National Health System Patient and Family Advisory Council, where she advocates for all patients and families, while she continues to fight for improved newborn screening policies. She is also the Virginia Volunteer State Ambassador for the NORD Rare Action Network advocating for those with rare diseases.

When Stephen turned 18 in 2015, the family celebrated with the Annual Stephen Monaco Charity Golf and Dinner Event to benefit the Rare Disease Institute of the Children’s National Health System. The 5th Annual Stephen Monaco Charity Golf and Dinner Event will be held on Oct. 25, at Old Hickory Golf Course in Woodbridge. More information.

Jana said that due to her husband’s job, she has had the ability to stay home and take care of Stephen, in addition to advocating on behalf of people with rare diseases.

“Our family has been able to take care of him and we have great friends and a support network,” she said.

Jana said Stephen, who is now 21, has taught her family that “every day is a gift.”

Rare Disease Day is February 29, 2020. Learn more on NORD.