Young boy’s parents fight to add rare Krabbe disease to newborn screening test

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    BEAVERTON, Oregon (KPTV) — A 5-year-old Beaverton boy is fighting a rare disorder called Krabbe disease. His parents say it’s possible his life could’ve been saved had the Oregon legislature acted more quickly.

Krabbe disease is a neurological condition that only affects 1-in-100,000 people. It’s slowly shutting down each of Emmett Monaco’s body’s systems, and his strong will to live won’t be enough to beat it.

“He was born healthy and at around 18 months old he lost the ability to walk, and then the next month he lost another skill,” said Joe Monaco, Emmett’s father.

For infants who are already symptomatic, there is no treatment that can change the course of Krabbe. It is generally fatal before age two.

However, according to the Mayo Clinic, when a stem cell transplant is performed before symptoms begin, children may have slower disease progression and improved quality and length of life.

But currently in Oregon the only way to know your child does have Krabbe is with the onset of symptoms, meaning it’s too late to provide the possibility for treatment. Oregon does not include the disease in its newborn screening test.

“I feel like we don’t matter to the OHA or the state lab,” said Nikki Monaco, Emmett’s mother.

Local families have fought to add Krabbe to Oregon’s screening panel since 2013.

Right now, only eight states screen for the disease, according to Baby’s First Test, a national resource center for newborn screening information.

“It doesn’t seem fair that whether a child lives or dies is based off of their zip code,” said Nikki.

Emmett’s parents became involved in Oregon legislation in 2019.

House Bill 2987 is scheduled for a hearing Tuesday. It directs the Oregon Health Authority to add dozens of rare diseases, including Krabbe, to the screening panel, but the Monaco’s aren’t confident the bill will succeed.

Rep. Susan McLain, D-Hillsboro, who is one of the bills’ sponsors said in a statement in part, “When these diseases are not detected at birth, it means these children lose out on the window of opportunity for treatment, and it also means that it becomes very costly for the state to take care of them…We got a hearing because we are trying to convince the state laboratory and the advisory committee that we set up in 2019, to be supportive of adding Krabbe to the testing list. We will continue to work with the Health Committee Chair, the advisory committee, and the state lab to look for another vehicle besides this bill for adding Krabbe to the list. We will also be talking to the Chairs of the Ways and Means Committee about the budget for the state lab.”

The Oregon Health Authority said in a statement to FOX 12: “Our hearts go out to families facing Krabbe disease and other rare and life-threatening diseases in infants. Oregon’s public health lab conducts timely newborn screening to find serious disorders in infants that can be treated. The state’s laboratory’s screening criteria are developed by an independent panel of medical experts. This panel has not recommended that the state public health laboratory test for Krabbe disease.”

“I would never wish this condition on anyone, or anyone else’s family, or any other kids. But at the same time, I kind of wish that someone in power had this happen to them or somehow be affected by it. Because then it would matter,” Emmett’s parents told FOX 12.

McLain said they’re looking for other ways besides HB2987 to add Krabbe to the list. While it won’t save Emmett’s life, his parents are desperate to help others.

“We do want his life to mean more than it does just inside these four walls [of our home], and we want it to be able to impact other people. We want Emmett to be able to leave a legacy.”

The Monaco family and McLain said they are also working at the federal level to get Krabbe listed on the “Recommended Uniform Screening Panel.”

Supplemental screening is available to purchase for your newborn to detect diseases like Krabbe, no matter where you live, through this website: huntershope.org/newborn-screening.

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