Newborn Screening
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My Baby’s Newborn Screening Indicated they might 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 thorough blood test with biochemical and targeted genomic sequencing will be performed to eliminate the possibility of a false positive as well as to determine the type of MLD your child has. This may also be confirmed with testing of the parents to confirm they are carriers of the MLD defect.
NBS LAB & ADVOCATE STATUS
fiveWith the 2024 approval of the gene therapy drug Lenmeldy® by the FDA and five US Qualified Treatment Centers established, our current focus is to ensure MLD is identified as quickly as possible by screening for MLD at birth. This is when the therapy is most effective and “curative.”
The state of New York became the first US state to start population-wide screening for MLD on September 12th, 2025!!
Illinois, Minnesota, Pennsylvania, and Tennessee are actively working towards implementation. North Carolina has an opt-in screen, Massachusetts and Utah are in active committee review, nominations/requests for consideration have been submitted to many other states, and a number large and small states are waiting for federal RUSP approval
Each state has their own process for adding conditions and diseases to their newborn screening lists. Some require legislation to be passed, others add based on recommendations from an advisory panel through their department of health, and others adopt what is added by the federal Recommended Uniform Screening Panel, RUSP.
MLD Foundation submitted the MLD RUSP Nomination in July, 2024. We are still working towards formal RUSP addition.
The MLD screen screen has been tested on over 500k babies and works beautifully with zero false positive and no false negatives to date. MLD Foundation is actively workign to get MLD added to the RUSP – we have identified a pathway to the RUSP that we hope will work in the absence of the ACHDNC.
An external Expert Evidence Review of all of the evidence in support of RUSP addiiton was hosted by Everylife Foundation on September 12, 2025. The video is embedded below:
To learn about how you can help support newborn screening efforts in your state and in the RUSP, visit MLD Newborn Screening.
- Learn about MLD. Take some time to learn about MLD and treatment options including gene therapy. To read information about MLD, you can find more at MLD overview. 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.