Get Involved

Why should you get involved in the LD NBS Action Network?

As a coalition of advocates, we are all working hard to achieve a common goal: newborn screening for leukodystrophies.

For a leukodystrophy to be added to a newborn screening panel, there needs to be a treatment and a viable newborn screening test in existence.  Right now, that is the case for just a few of the 40+ leukodystrophies that have been identified.  But, we have to start somewhere!  And for the leukodystrophies that are recommended for screening, there is not yet universal implementation.  This means there is a lot of work to be done to ensure that a zip code does not determine life or death.

Some leukodystrophies are in the process of being implemented in more regions while others still need to be put on screening panels first.  With the LD NBS Action Network, we hope you can help further both of these goals.  We have provided guidance and resources from advocates that have been in your very shoes.  And, we are here to support your advocacy journey!

Ways to get involved in the LD NBS Action Network:

  • Becoming an Advocate

    Learn more about Becoming an Advocate today.  

  • Support efforts

    Support efforts by other advocates to further newborn screening for leukodystrophies.

  • Subscribe

    Subscribe to our website for regular updates

  • Attend events

    Attend events about newborn screening as it relates to leukodystrophies and rare diseases.

  • Contact us!

    Let us know about newborn screening efforts and updates in your region! Click Here

3-Hydroxy-3-Methylglutaric Aciduria
3-Methylcrotonyl-CoA Carboxylase Deficiency
Argininosuccinic Aciduria
Beta-Ketothiolase Deficiency
Biotinidase Deficiency
Carnitine Uptake Defect
Citrullinemia, Type I
Classic Galactosemia
Classic Phenylketonuria
Congenital Adrenal Hyperplasia
Critical Congenital Heart Disease
Cystic Fibrosis
Glutaric Acidemia, Type I
Hearing loss
Holocarboxylase Synthetase Deficiency
Isovaleric Acidemia
Long-Chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency
Maple Syrup Urine Disease
Medium-Chain Acyl-CoA Dehydrogenase Deficiency
Methylmalonic Acidemia (Cobalamin Disorders)
Methylmalonic Acidemia (Methymalonyl-CoA Mutase Deficiency)
Primary Congenital Hypothyroidism
Propionic Acidemia
S, Beta-Thalassemia
S, C Disease
Severe Combined Immunodeficiency
Sickle Cell Anemia
Trifunctional Protein Deficiency
Tyrosinemia, Type I
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency