September 2025
September is Leukodystrophy and Newborn Screening Awareness Month! The goal is to encourage parents, healthcare providers, and policymakers to advocate for the inclusion of more conditions, like leukodystrophy, in routine newborn screening panels.
The awareness month highlights the importance of education, funding, and research to ensure that every baby receives the opportunity for early diagnosis and treatment, offering hope for a better quality of life for those affected by these devastating conditions. It also encourages individuals and parents impacted by leukodystrophy to tell their story to help inform others about the signs, the symptoms, and the significance of early detection.
By spreading awareness about leukodystrophy and the life-saving potential of newborn screening, this month serves as a reminder of the power of early detection in protecting children’s futures and improving health outcomes for rare genetic disorders.
Frequently Asked Questions About Leukodystrophy
What’s a Leukodystrophy?
A rare group of inherited disorders that affect the white matter (myelin) in the brain and spinal cord.
What is myelin?
Myelin is a fatty substance that surrounds and insulates nerve fibers, allowing them to efficiently transmit electrical signals throughout the nervous system.
What happens to the myelin in individuals with leukodystrophy?
The myelin either fails to develop properly or is destroyed over time. This disruption in the brain’s communication pathways can lead to progressive neurological decline, affecting movement, speech, vision, hearing, and cognitive abilities.
Are there different kinds of leukodystrophies?
Yes, there is! In fact, there’s more than 50 kinds of leukodystrophies. Some of the more common leukodystrophies are as Metachromatic Leukodystrophy (MLD), Adrenoleukodystrophy (ALD), and Krabbe Disease, each caused by genetic mutations that interfere with the body’s ability to produce or maintain myelin.
Are there different severities of leukodystrophies?
Yes, there is! The onset and severity of symptoms vary widely among individuals, with some types presenting in infancy and others developing later in life. For example, the infantile and late-infantile Krabbe subgroups of diseases are more severe than the juvenile and adult-onset subgroups.
Is there a cure for leukodystrophies?
There’s treatment for some leukodystrophies but most are fatal. However, early detection and intervention, including supportive care, medication, or bone marrow transplants, can sometimes improve the quality of life and slow disease progression.
September is Leukodystrophy Awareness Month and Newborn Screening?
Yes! Families love sharing Leukodystrophy Awareness Month with Newborn Screening(NBS). NBSplays a crucial role in raising awareness about conditions like leukodystrophy and the importance of early detection through newborn screening.
What is the newborn screening test?
Newborn screening involves a simple blood test performed within the first 24-48 hours of life to detect over 30 serious conditions, including some types of leukodystrophies, before symptoms become apparent. When identified early, treatments or interventions can begin before irreversible damage occurs, potentially preventing severe outcomes.
Are all state newborn screening panels the same?
No! Newborn screening programs are standard practice in the United States however, the specific conditions tested vary by region. We invite you to learn what conditions your state screens for by visiting Baby’s First Test website here.
Why is early detection important?
Early detection is especially important because symptoms often do not appear until significant neurological damage has already occurred. For example, in Krabbe disease (KD), early screening can identify babies at risk before the disease starts to manifest, allowing for treatment such as bone marrow transplantation that can significantly slow the progression of the disease. Learn more about treatment here.
What can I do to be a part of Leukodystrophy and Newborn Screening Awareness Month?
- Download the Facebook Profile image, add your loved-one impacted by Krabbe disease.
- Share out our Leukodystrophy and Newborn Screening Awareness Flyer
- Join Anywhere Strides — help raise funds to bring a cure to the bedside of patients.