Newborn Screening

With the approval of gene therapy drug Lenmeldy® by the FDA, our next task is to ensure that children with MLD are identified as quickly as possible by screening for MLD at birth.

At present, two states, New York and Illinois, have taken steps to add MLD to their newborn screening list. Each state has their own process for adding conditions and diseases to their newborn screening registry. Some require legislation to be passed, others add based on recommendations from a panel through their department of health, and others adopt what is added by the federal Recommended Uniform Screening Panel, RUSP. The MLD Foundation has recently submitted their application to have MLD added to the RUSP. 

To learn about how you can help support newborn screening efforts in your state and in the RUSP, visit MLD Newborn Screening.

My Baby’s Newborn Screening Indicated they have MLD. Now what?

This is no doubt a challenging and scary time. We are here to help you navigate what is next in your child’s health and story. Here’s what you can expect in the days and months ahead:

  • Diagnostic Confirmation. A more thourough blood test with targeted genomic sequencening will be performed to eliminate the possibility of a false positive as well as to determine the type of MLD they have. This may also be confirmed with testing of the parents to confirm them to be carriers.


  • Learn about MLD. Take some time to learn about MLD and treatment options including gene therapy. To read information a bout MLD, you can find more at MLD-101. We also have a video overview of MLD.
  • Connect with MLD Experts. Find a regional specialist or connect with some of the nation’s foremost experts on MLD.
  • Build a local MLD care team and support network. This can include your PCP, various specialists, your family and friends. Find people you can lean on for tangible and emotional support as you begin this new chapter.
  • Investigate Available Therapies. In conjunction with your care teams, learn about various therapeutic options to provide your baby with a good quality of life.