September 2024
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 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). NBS plays 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 leukodystrophies your state screens for my visiting LDNBS.org . Just click on the state you reside in to see the details.
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.
Be a part of Leukodystrophy and Newborn Screening Awareness Month
- Attend or donate to the Ten Candles, Endless Hope Event at Hershey Garden in Hershey, PA, on September 7. All the details are here.
- Attend one of our informational webinars this month.
- Share your leukodystrophy story and the impact of newborn screening on your social media channels and tag us @krabbeconnect!
Informational Webinars
Are All Transplants Created Equally for the Treatment of Krabbe Disease?
Date & Time:
Friday, September 13th at 4:00 pm – 5:15 pm EST
About the Webinar:
This meeting will explore the different types of stem cell transplants, their effectiveness, and the latest research in treating Krabbe Disease. Whether you’re a healthcare professional, researcher, or someone affected by the disease, this session will provide valuable information and perspectives on the nuances of stem cell therapy for this rare condition.
Guest Speaker:
Dr. Paul Szabolcs, Chief, Division of Blood and Marrow Transplantation and Cellular Therapies at the University of Pittsburgh School of Medicine.
Caregiver Panel: Experience Navigating Treatment for Krabbe
Date & Time:
Monday, September 16th at 5:00 pm EST
About the Webinar:
This panel will explore various experiences, showcasing the challenges and triumphs in the treatment journey. Each caregiver will also offer valuable advice to help healthcare providers and families better manage the complexities of caring for someone with Krabbe disease. Whether you’re a caregiver, family member, newly diagnosed, or a healthcare provider, this webinar offers valuable perspectives from 4 families navigating Krabbe disease.
Insights and Data from the Reskue and ReKlaim Clinical Trial
Date & Time:
September 26th at 12:00 EST – 1:15 EST
About the Webinar:
This session will provide an in-depth look at the latest findings from these pivotal trials focused on treatments for Krabbe disease. Attendees will gain valuable knowledge on trial outcomes, patient responses, and the potential implications for future therapies. Whether you’re a researcher, clinician, or someone impacted by Krabbe Disease, this webinar offers critical updates and data-driven insights into these groundbreaking studies.
Guest Speaker:
Dr. Maria Luisa Escolar