ATTENTION
All newborns born in the United States have the opportunity to be tested for treatable, severe diseases through newborn screening. While each state guides their own specific panel, the highest standard is set by the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). After a year of careful review by experts, only the diseases with the strongest evidence are added to the Recommended Uniform Screening Panel (RUSP). On May 8th, 2025, the ACHDNC was expected to strongly support the addition of metachromatic leukodystrophy (MLD). This would have marked a life-saving step towards early diagnosis and treatment Unfortunately, weeks before the final vote, this process was terminated. The path forward without RUSP is unknown and will likely cost time and the lives of children.
During "MLD on the Hill," we will gather together and share our stories during the week of the missing vote to urge officials to join us in action and to bring back a path forward for newborn screening for MLD. “MLD on the Hill” is a fight to save lives through newborn screening.
What is newborn screening?
The US newborn screening system is the envy of the world. We test for more treatable diseases than any other developed nation. U.S. newborn screening helps more than 14,000 children annually. Because of this, it is one of the most impactful public health programs in US history.
What is the RUSP?
RUSP (the Recommended Uniform Screening Panel) is the approved list of 61 metabolic disorders in children that cause death or severe disability. To be included on the RUSP, diseases must have met high standards and criteria for population-based screening.
While it is up to the states to decide which conditions they screen for, all look to the RUSP for guidance. Many states even have laws to ensure the conditions in their newborn screening program align with those on the RUSP.
Learn more about the ACHDNC termination from the Boston Globe by clicking here: Trump administration dissolves newborn screening committee.
Why is MLD newborn screening important?
MLD is a rare genetic disorder that affects the way the brain develops in early childhood. In its most common and most severe form, otherwise normal children begin to lose their ability to move and speak around the age of 2 years. Untreated, MLD always leads to early death.
The incidence of MLD is estimated to be 1 in 100,000 births in the U.S. or approximately 30–40 births per year. Most families have no idea they are at risk for MLD.
It is costly to suffer from MLD, as children are dependent on their families and the medical system in all ways. For Calliope Joy Foundation founder, Maria Kefalas, her daughter’s care cost over $2 million over the course of a decade. This is not uncommon. These are only the medical costs - they do not include lost wages, psychological and emotional stress, increased divorce rates and family instability, the physical toll on caregivers, trauma to siblings, and the disruption of a family who must provide complex and 24/7 care to a child with MLD.
Click here to learn more from families who have been impacted by MLD all over the US.
With great hope, we celebrate that MLD is now a TREATABLE disease with an approved therapy. Experts in the field consider MLD's gene therapy to be among the safest and most transformative gene therapies in the world. We must act upon this chance to save lives.
The oldest US patient, Giovanni, is 15 years old and has no symptoms of the disease. He has the chance to grow up and lead a full life. A chance his sister didn’t have.
Gene therapy can only treat children before the damage to the brain and central nervous system occur. Presently, the only way to save a child from MLD is to diagnose an older sibling - who is usually too far progressed for treatment - to save a younger one. Newborn screening would save families from the horror of watching one child die to save another.
Newborn screening is not just the right thing to do, it makes sense financially to the health care system. An untreated child requires costly care for decades, a heel prick blood test can prevent this devastating outcome.
Dear Friends and Supporters,
I am writing to you with a heart full of gratitude and appreciation. When we founded The Calliope Joy Foundation in 2013, our mission was to drive awareness, fund research, and support families affected by leukodystrophy. Thanks to your unwavering generosity and advocacy, we have seen what once seemed impossible become a reality. With this year’s FDA approval of gene therapy treatment for Cal’s disease: metachromatic leukodystrophy (MLD). We have reached a milestone that once felt like a distant dream.
This remarkable achievement means that children diagnosed with MLD now have a second chance at life, offering a breakthrough that has the power to change lives and bring hope where there once was none. It is a victory for every family who has faced this devastating diagnosis, and it marks a turning point in the fight against leukodystrophies. With this success, The Calliope Joy Foundation will be pausing our operations as we
assess and reflect on our next steps. For the time being, we are stepping back from active fundraising and programming to determine how we can best support this new chapter for MLD research and treatment.
During this pause, please know that my commitment to the leukodystrophy community remains as strong as ever. If you have questions or need to reach me, I will always welcome your outreach.
If you would like to continue supporting efforts in MLD and leukodystrophy research, I encourage you to direct donations to the Leukodystrophy Center at the Children’s Hospital of Philadelphia (CHOP), which remains at the forefront of leukodystrophy research, care, and innovation. You can make a gift directly here.
The past twelve years have been nothing short of extraordinary. Together, we have raised critical funds, helped families gain access to life-changing treatments, and built a community of support and hope for those affected by leukodystrophy. Our collective efforts have changed lives, and I am forever grateful for each and every one of you who made this possible.
Thank you for being part of this journey and believing in our mission. While this is a pause, it is not a goodbye. It is a moment to reflect on what we have accomplished together and what the future may hold.
With deepest gratitude,
Maria Kefalas
Founder, The Calliope Joy Foundation
