A bipartisan bill (SF 1494) authored by Minnesota State Senator Jeremy Miller (R-Winona) to add Metachromatic Leukodystrophy (MLD) to the state’s newborn screening list received its first hearing in the Senate’s Health and Human Services Committee on March 18.
Metachromatic leukodystrophy (MLD) is a rare genetic disease that mostly affects young children, although it can also develop in teens and adults. It happens when the body is missing an enzyme needed to break down certain fats. As these fats to build up in the brain and nerves, it leads to worsening problems with movement, thinking, and body control. For infants with this rare but fatal disorder, early detection can mean the difference between a chance at life and no chance at all.
Winona MLD advocates Nick and Shanna Quimby, who lost their Gavin Quimby to MLD, testified in support of the bill: “MLD is a swift and devastating disease that is difficult to successfully treat without early detection. Every minute counts with this disease. The sooner a child is diagnosed with MLD — like at birth — the sooner treatment can begin. Gavin didn’t have this option because the technology for MLD newborn screening wasn’t available. It is now. The science and technology are here today. The time is now to add MLD to Minnesota’s newborn screening panel so no child will have to suffer like Gavin and other MLD children have.”
“Nick and Shanna did an amazing job sharing their story,” Senator Miller said. “So many parents have faced unimaginable loss due to MLD, and it is inspiring to see them share their story in an effort to raise awareness and highlight the importance of adding MLD to Minnesota’s newborn screening list. They are committed to helping ensure Minnesota families can get early detection and diagnosis so they have the best possible chance of a positive outcome. The efforts of the numerous MLD advocates will literally help save lives here in the state of Minnesota.
Jennifer Braun, Nurse Practitioner and clinical director in clinical trials office of the Masonic Cancer Center at the University of Minnesota, and Dr. Julie Eisengart, PhD, LP University of Minnesota, Center for Leukodystrophy provided medical reasoning for the urgency behind adding MLD to the newborn screening list. In addition, Shanna Quimby read written testimony from Professor Michael Gelb from the University of Washington Department of Chemistry.
MLD: A rare disease with devastating consequences
Metachromatic Leukodystrophy (MLD) is an ultra-rare and fatal neurodegenerative disease that affects approximately one in 100,000 live births. It is caused by a genetic mutation that prevents the body from producing the enzyme arylsulfatase A (ARSA). Without enough ARSA, harmful substances called sulfatides build up in the nervous system, leading to neurological damage and progressive loss of motor and cognitive functions.
According to the Mayo Clinic, symptoms include loss of motor skills, such as walking, moving, speaking, and swallowing, loss of intellectual, thinking and memory skills, loss of the ability to detect sensations, such as touch, pain, heat and sound, and loss of vision.
There are three types of Metachromatic leukodystrophy — infantile, juvenile, and adult form. Juvenile is its most severe form. Children appear healthy at birth but, within just a few years, lose the ability to walk, talk, and interact with the world. Most do not survive beyond five years after symptoms begin.
The tragic reality is that by the time MLD is diagnosed, treatment options are often too late to be effective. Without newborn screening, families are left in the dark until symptoms appear, at which point irreversible damage has already occurred.
Why Newborn Screening is critical
The key to combating MLD is early detection. While there currently is no cure for MLD, medical experts emphasize that treatments exist that can significantly improve outcomes — but only if administered before symptoms develop. Minnesota has the resources and expertise to help these children, but without screening, many will never get the chance.
Technology has advanced to a point where accurate and reliable testing is possible with minimal risk of false positives. By adding MLD to the screening list, Minnesota can give families the knowledge and tools they need to pursue life-saving treatment.
This bill is the latest in a series of efforts by Senator Miller and rare disease advocates to expand Minnesota’s newborn screening program. In 2015, Sen Miller championed the SuperGav Act, named for the Quimby’s young son, Gavin, whose story took Winona by storm before he lost his life to MLD at age 5. The Super Gav Act helped drive the Minnesota Department of Health to expand its newborn screening program in 2016.
The Quimby and Barnes families along with other passionate advocates were also instrumental in working together with Sen. Miller on the creation of Minnesota’s Rare Disease Advisory Council in 2019. The council has been a driving force in improving care and providing resources for rare disease patients and ensuring that families have a voice in state policy.