On May 8-9, 2025, Metachromatic Leukodystrophy (MLD) was to be voted upon as a disease to add to nationwide newborn screening panels (the foot prick every baby gets after birth to ensure they do not have a variety of rare diseases). With this in place, any baby diagnosed with MLD at birth would be able to receive the same gene therapy treatment as Keira – a treatment that is now FDA approved and available in Minnesota.

But as of eight days ago, that is no longer the case. Now, families will have to hear this diagnosis just like we did with Livvy – when symptoms occur. When it is too late to receive this life-saving gene therapy treatment. These children and their families will be faced with this crushing diagnosis and an estimated average life span of age 6.

To say it has been a devastating few weeks for the MLD community is an understatement.

So why did this happen? After the expansive cuts across federal health agencies like the Department of Health & Human Services, with it came the termination of the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC), the committee responsible for deciding which diseases go on the Recommended Uniform Screening Panel or RUSP.

This committee was solely responsible for adding new conditions – that have actual treatments that work – in order to prevent outcomes like what we will see with Livvy. The next diseases to be added were metachromatic leukodystrophy (MLD) and Duchenne muscular dystrophy (DMD). Now, both hang in the balance…with no redirection and no hope. We are back at square one: where families will continue to lose one child in order to save another, as we will with Livvy and Keira.

The MLD community is now rallying (again, after a decade+ of work to get to this point) to speak with legislators about this devastating loss and figure out a way to ensure this will be on newborn screening, to ensure these babies get treated before it’s too late and to ensure we save hundreds of more lives each year.

I’ll continue to keep you updated as we hear more. In the meantime, you can help by contacting your Congressional representative and asking them to reinstate this committee immediately (feel free to share this blog post). And you can read more on the devastating effects of this change in The Boston Globe, TIME Magazine and Med Page Today.