One of the first things a newborn experiences is a nurse pricking their heel to gather blood. A few drops are absorbed onto a special piece of paper which is then sent to the state public health lab. There, they test for everything from sickle cell anemia to cystic fibrosis.
But Oregon checks for fewer diseases in newborns than recommended by the federal government.
The idea is that when disorders are caught quickly, they can be treated to prevent developmental problems and even death.
But Oregon doesn’t screen for it at birth. So Emmett was fine as a newborn, but at 9 months he started having problems.
“The first thing that he lost was his ability to walk. And then from there his ability to eat, or really have the energy to eat. The ability to reach, the ability to sit up, hold his head up,” Monaco said.
It took the family a year and a half to get a diagnosis that Emmett was suffering from Krabbe disease. And by that time, it was too late for the cord blood transplant that might have saved him. By 2, he’d lost his eyesight.
“He would wake up and scream and I couldn’t console him because obviously it’s scary and he doesn’t understand why he couldn’t see anymore,” Monaco said.
“At this point he can still hear, but the processing is slow. And he just recently started blinking, once for yes, twice for no, to communicate with him. So we can ask him: ‘Are you in pain? Are you OK?’”
The prognosis isn’t good. Emmett could die from something as benign as a cold. Few children with his condition live long past the age of 7.
What’s frustrating for Monaco is that in 2015 there was a bill in Salem to include Krabbe disease in Oregon’s newborn screening test.
“If we had screened him at birth, we could have treated him at birth and he would have had a much better outcome,” Monaco said.
Mother of two Tammy Wilson pushed for legislative changes in 2015. Her eldest son died of Krabbe. As a result she had her youngest tested and treated for Krabbe.
Healthy and happy, that son held up a picture of his brother for lawmakers as Wilson spoke at a recent public hearing.
“We failed as a society, a legislature, a government,” Wilson told lawmakers. “We failed our children and now it’s time to act, and fix what we can so easily do.”
Currently Oregon tests for 54 different disorders, which may seem like a lot. But the U.S. Department of Health and Human Services recommends states check for 58. And some states, like Tennessee, check for 70.
Rep. Mitch Greenlick, D-Portland, blocked the 2015 version of the bill because it dealt only with Krabbe, rather than addressing the whole system of adding diseases to the test.
“What I was really hoping for was the development of a process that would guide us in the right direction,” Greenlick said.
House Bill 2563 would add Krabbe to the list of diseases checked. It would also include all the federally recommended tests in Oregon’s program and establish a new advisory board within the Oregon Health Authority. That board would make recommendations about adding diseases as new treatments are developed and early diagnosis becomes more important.
Greenlick thinks the inclusion of the new advisory board should help HB 2563 pass this time.
“I’m pretty confident about it,” he said.
Retired teacher, Rep. Susan McLain, D-Hillsboro, is sponsoring the new bill. She heard the 2015 version died because it only focused on Krabbe, and because the state laboratory didn’t want diseases added one-by-one via legislative bill. She said HB 2563 gets around that opposition by creating the new system for adding diseases.
“Where all of a sudden there was new information, or new science, or there were new types of genetic testings and solutions and cures being found, that we could get those added as tests for our newborns,” McLain said.
She estimates it’ll increase the cost of the test from about $80 to maybe $120. And the state would have to find $64,000 to pay for the new advisory board. But in the context of health care bills, she thinks that’s acceptable.
“I think that that is a reasonable request,” McLain said.
Dr. Joanne Kurtzberg, from Duke University Medical Center, says Oregon would do well to set up a new system for adding diseases to the screening test, in light of innovation in health care research.
“The pace that the therapies are being developed has been accelerated greatly over the last few years. So it’s to be expected that there’ll be novel therapies emerging,” Kurtzberg said.
The Oregon Health Authority declined to comment on the bill. But before it has even passed, the agency is already recruiting people for the new advisory board.