metachromatic leukodystrophy

In Florida, we have a, um, a mandatory, you can opt out of it, but it's a mandatory newborn screening panel that has 60 conditions.

With the addition of Duchenne, in this past session, we also added, uh, in addition to Duchenne, uh, MLD and, and Krabbe.

So now we'll have 63 conditions.

But working on, on the, on, uh, the DMD condition, it, it was just such a heavy lift to add one condition to that panel.

It has.

I'm surprised at the quickness with which we've been able to proceed and move things forward for the MLD community, but also rare disease community.

So the fact that this treatment my daughter got in Italy is now FDA approved was a huge milestone for Secretary Kennedy then approved adding that disease to newborn screening in December of last year.

So it's been an amazing trajectory of how many lives we've been able to save and how many families like ours won't have to deal with a situation like ours where they lose one child in order to save another.

So fast forward to March of 2020, when the world was shutting down, we were... you know, trying to get an MRI.

Thankfully we did, did get a misdiagnosis, which is a common problem with rare diseases in general.

Thankfully had a second opinion a couple of days later and found out it was metachromatic leukodystrophy or MLD.

What this disease basically does or doesn't is the body doesn't create something called the ARSA enzyme.