Heartbroken Dad Lobbies Oregon To Include Rare Disease Krabbe in Newborn Screenings

Nikki Monaco Joe Monaco Emmett Monaco Krabbe Disease Newborn Screenings Dad Lobbies Oregon to Include Krabbe in Newborn Screenings

By Joel Brussels , Parent Herald Jul 15, 11:41 am

Photo: (Photo : Ulrike Mai from Pixabay )

Nikki and Joe Monaco were both devastated when their five-year-old son Emmett died of a genetic disease earlier this year. Their grief turned into anger when they learned that newborn babies are screened for the disease their son had in 10 states, and it is treatable.

Emmett unfortunately was born in a state with no such screening. The smiling, friendly child soon lost his ability to eat, walk, and talk before he succumbed to the disease called Krabbe. His parents are now pushing more states to screen for this genetic disease, so other parents do not have to endure the same loss.

The family suspected something was wrong with Emmett before he was diagnosed. He stopped meeting some milestones when he turned one year old. The family saw dozens of doctors at nearly 100 appointments over the next eight months to find out what was wrong with Emmett and to understand why he suddenly stopped developing and started deteriorating.

Krabbe diagnosis came too late for Emmett

Joe told TODAY that Emmett lost not only the ability to walk, but also the ability to sit up on his own. The Beaverton, Oregon native said that his son lost the ability to eat and he started losing his ability to talk. Joe added that Emmett just could not move and he was just lying in one spot on the couch.

Doctors ordered one more blood test and they finally learned what was wrong with the young tot with Emmett having a rare, fatal disease called Krabbe. The 37-year-old dad said there is a potential treatment option for Krabbe and parents can choose to treat their child if it is diagnosed early enough, before they become symptomatic.

Because Emmett was not screened for the disease, his diagnosis came too late and the treatment could not help him. That was the moment when the Monacos harnessed their anger, sorrow, and frustration into lobbying the state of Oregon to include Krabbe disease in its newborn screenings. They have been unsuccessful thus far, but they are not planning to stop anytime soon.

What is Krabbe disease?

Nikki said she was so heartbroken and she felt like she failed her son because she had been pushing and pushing and researching and still it was too late. The 35-year-old mom added she had a decision to make, saying she can either be swallowed by her grief or she can take that energy and use it to help other families and future children with Krabbe.

According to Mayo Clinic, Krabbe disease is a rare genetic condition that is inherited when both parents carry the gene. Dr. Joanne Kurtzberg, Jerome S. Harris Distinguished Professor of Pediatrics at Duke University School of Medicine, said that it is a fatal disease that affects development of the brain, and it predominantly occurs in very young babies. She said it is caused by a mutation in a gene that codes an enzyme that is necessary for development of the brain.