CNN Newsource ran a special report about five-year-old Emmett Monaco of Beaverton, Oregon who is fighting to stay alive, but his body is slowly failing him. Emmett was diagnosed with Krabbe disease, a rare neurological disorder. The disease affects one in one hundred thousand individuals.
Krabbe disease is also known as Globoid Cell Leukodystrophy. It is a genetic disorder affecting the central and peripheral nervous systems.
Based on information from the Mayo Clinic, Emmett’s parents believe that his life could have been saved if the Oregon legislature had joined eight other states that perform newborn screening for Krabbe disease. Ever since 2013, a group of Oregon parents has been petitioning the legislature.
According to reports and specifically a report by the Mayo Clinic, if the disease is diagnosed before symptoms appear and a child is given a stem cell transplant, the disease can be controlled to a degree. It will also add to the child’s life span. But once symptoms appear the disease is fatal. There is no treatment that will alter the course of the disease.
An Added Burden
Emmett’s symptoms first appeared when he was eighteen months old. He completely lost the ability to walk. He has managed to survive to the age of five, but his system is gradually breaking down.
Emmett’s mother Nikki told FOX that the family feels as if they do not count to the state or to the Oregon Health Authority (OHA). Nikki said that it seems unfair that a child could live or die depending on their zip code.
In 2019 Emmett’s parents sought to help with the push for early Krabbe testing by getting involved with the legislature. And this year House Bill #2987 will go to hearing on Tuesday, April 13th. The bill would authorize the OHA to add a list of rare diseases to the panel and Krabbe disease is on that list.
Still a Long Way to Go
Help came from Representative Susan McLain, Democrat/Hillsboro, and a sponsor of the bill. Rep. McLain points out that this disease must be diagnosed at birth otherwise the children cannot receive effective treatment. Also, in this scenario, the state will be impacted financially.
Rep. McLain explained that the hearing is for the purpose of convincing the state’s lab and the newly formed advisory committee to support the addition of Krabbe to the lists of tests.
The OHA issued a statement to FOX 12 stating its sympathy for patients and their families struggling with Krabbe and other rare diseases.
This statement was followed by another focusing on the state’s screening criteria and that it has not recommended the state’s public health lab screen for Krabbe disease.
Never Too Late to Help Others
Rep. McLain and Emmett’s parents are searching for alternative ways to get Krabbe disease on the list. Their goal is to save others even though it is too late to save Emmett.
The trio has begun to work at the federal level hoping to get Krabbe added to the Recommended Uniform Screening Panel. Emmett’s parents would like this to be Emmett’s legacy.
Note that supplemental screening that detects diseases such as Krabbe disease, can be purchased for your newborn by accessing: huntershope.org/newborn-screening.