No family should have to watch their child suffer from a disease that could have been caught early. Today, Senator Jeremy Miller (R-Winona) stood alongside families, medical experts, and advocates at the Minnesota State Capitol to unveil a bipartisan bill (SF 1494) that would spare many more families from this pain by adding Metachromatic Leukodystrophy (MLD) to the state’s newborn screening list. For infants with this rare but fatal disorder, early detection can mean the difference between a chance at life and no chance at all.
“One of my favorite parts of being a state senator is working directly with constituents on issues that matter to them,” Senator Miller said. “And in this case, it’s even better because these efforts are literally saving young lives right here in Minnesota. You have families who have lost a loved one to a rare disease turning their grief into action to help others get the early diagnosis and treatment their child never had. Their selflessness is the reason this grassroots bill exists — and the reason more children will have a fighting chance. I couldn’t be prouder to join these families in helping get this done.”
ADVOCATE QUOTES:
- Nick and Shanna Quimby, MLD advocates and the parents of Gavin Quimby, who passed away from MLD: “If MLD had been on the newborn screening panel, Gavin’s life would have been exponentially different. We have seen children who were treated early with gene therapy. These children are now healthy and thriving with their lives – a life we wished we had for Gavin. MLD moves quickly and devastatingly; we need this screen to get babies early enough so no other Minnesota parents will ever go through the tragedy of losing their child to MLD.”
- Laura Alberts, MLD Advocate, mom of Thomas who passed away from MLD: “This is a remarkable opportunity. Medicine has come a long way. We need to take this great opportunity and put MLD on the Newborn Screening List so no family ever has to hear ‘go home and make memories with your child.’ If we were given the opportunity to have this gene therapy for Thomas, we would for sure have taken it to have even one extra day with him.
- Erica Barnes, Executive Director of the Rare Disease Advisory Council and mom of Chloe who passed away from MLD: “The story of MLD is the same story as a number of rare diseases. Science has come a tremendous way since those of us who lost our children to MLD. Things that were out of reach of medicine even a decade ago are now within reach. When Chloe was diagnosed with MLD and only a slim chance a treatment, we did what any parent would do: we fought like hell to save our child. With every new piece of nightmarish diagnosis, we tried to shift our expectations to whatever her future might look like. A couple days before Chloe died, Phillip and I sat beside her bed and made her a sacred promise: that we would do all the good in the world that she would have done had she lived. This promise has been a driving force in our lives. In 2014, we founded Chloe’s fight. We dreamed that someday MLD would be added to the Newborn Screening Panel so that no other family had to experience the horrible diagnostic journey and loss that we did.
- Eva Barnes, daughter of Erica Barnes, shared a story of Norah, a girl living with MLD: “My mom told me that there is a new therapy that will cure children like me when they are still babies. But we need to find them. My mom and dad didn’t know I had MLD when I was born, and they wish they could have saved me. I wish I could have had a normal life without pain. I know I am going to have a short life, but I want my life to matter. Please add MLD to the Newborn Screen so other Minnesota children and their families have a chance to live their life fully.”
- Julie Eisengart, PhD, LP University of Minnesota, Center for Leukodystrophy: “For MLD, gene therapy allows for much better testing scores. They show the gift of development forward rather than regression backward. But the caveat is timing. When MLD begins to rob a child of their skills, there is no recovering what has been lost. There is no going back to normal. There is no time to wait for an MLD diagnosis. On the other hand, children who are treated before MLD begins chipping away at their skills do not lose their abilities. Not only do their abilities increase, but they have a quality of life that they deserve. They continue to play, they run, they jump. They talk and joke and laugh. And they don’t lose these skills. With newborn screening, all affected children have a chance at treatment while MLD is still invisible – to keep it invisible. We know newborn screening works. All children deserve a chance at a timely diagnosis. Minnesota has been a leader at newborn screening; we can and should continue to lead at saving the lives of these children.
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.