Congressional Briefing #2

While our trip to D.C. in May was both successful and hopeful in sharing our family’s story with lawmakers, truly moving the needle seemed to warrant another trip and another Congressional Briefing.

This past week, Keira and I returned to the Capital, where we were included in a panel discussion about our family’s experience and how newborn screening for MLD could change – and save – the lives of so many.

Included among the panel were the following:

It was a great discussion with perspectives from each of the panelists.

One glaring statistic I learned: the test for MLD newborn screening (to be added to the foot prick test after birth) only costs $5-8 per baby! Compared to the millions in costs for a single symptomatic child, like our daughter Livvy, who will need a variety of special needs equipment, 10+ medications/day, and numerous hospital and ER visits (to name a few things) before passing away at an average age of 6.

In attendance were other MLD families as well as members of a variety of House and Senate committees. The feedback seemed very positive.

Earlier that day, we also had an unexpected meeting with the White House Domestic Policy Council staff to similarly share our family’s story and the importance of adding MLD to newborn screening when there has been an FDA approved treatment for it for well over a year and a half.

It was also a positive meeting, and little did we know it may have actually made a difference.

A mere 48 hours later we were invited back.

I don’t know what this meeting entails, but we are VERY hopeful that it will include ensuring nationwide screening for MLD so that any child diagnosed will have access to the same FDA approved treatment that Keira received.

We will keep everyone updated!

In the meantime, here are a few photos from last week’s trip to D.C.

Recap of MLD on the Hill

In May of this year, we had the incredible opportunity to go to Washington D.C. with other MLD families, doctors, scientists and supporters to share our stories, and why Newborn Screening is necessary for MLD.

Time got away from me so I’m just now posting about it…one week before we return to D.C. (more on that later).

During our initial trip, where I took Keira and Eva and Dave stayed home with Livvy, we met with several lawmakers (and their teams) and I was among a few parents who spoke at a Congressional Briefing on the Hill. Not something I had on my bingo card for 2025…or ever, for that matter!

It was an amazing experience but also very eye opening to see in-person the inner workings of our government and the processes by which things get done (or sometimes don’t). Not unlike having to be an advocate for your children at the hospital, it is up to us at citizens to be an advocate for things we know are important to this nation – and in this case, are life-saving.

Following the ACHDNC being shuttered by the Trump administration – a mere one week prior to the vote on adding MLD to the RUSP – the entire MLD community was up in arms and determined to somehow move the vote forward.

So we, along with other MLD families across the nation, went to Capitol Hill to show lawmakers what newborn screening for MLD can do; to show them, in person, the lives that have already been saved.

During the trip, we met with Rep. Greg Stanton, along with staffers from the offices of Senator Mark Kelly, Senator Ruben Gallego and Rep. Buddy Carter from Georgia.

I also spoke alongside three other parents at a Congressional Briefing at the Capitol Hill Visitor Center, where a variety of lawmakers listened to our stories of tragedy and how they have the power to turn this into a triumph for the many families who will also be faced with this devastating diagnosis.

Below are a few photos from our trip. Keira and I are looking forward to going back to DC next week! Feel free to follow along on that journey on my Instagram, @mrskendrariley.

Kendra Riley and her daughters Eva and Keira meet US Representative from Arizona, Greg Stanton at his office in the US Capitol in Washington, DC on May 7, 2025 to advocate for gene therapy and newborn screening for MLD.

MLD Newborn Screening Has Halted…

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.

Why We Need Newborn Screening for MLD

Now that the U.S. has an FDA approved treatment for Metachromatic Leukodystrophy (MLD), you’d think they would automatically add it to the nationwide Newborn Screening recommendations for all states in order to immediately begin saving lives, right? Wrong.

Accomplishing this is also quite the process and one that requires the entire MLD community to share their stories, educate the committee who makes the decision as to what goes on the RUSP (Recommended Uniform Screening Panel) and make it completely obvious that doing so would save thousands of lives (especially now that there is an approved treatment which must be given before children become symptomatic in order for it to be effective).

So, who is this committee? It’s called the ACHDNC, or Advisory Committee on Heritable Disorders in Newborns and Children. According to their website, it is comprised of 10+ doctors whose specialties range from pathology, genetics and public health practice to laboratory services, pediatrics and molecular biology (to name a few). It is they who determine whether a disease gets added to the RUSP and therefore recommended to every state in the nation to be included in the foot prick blood spot test that every baby gets at their first visit to the pediatrician.

Only then will MLD be diagnosed in time for a child to receive the FDA approved treatment. Without it, babies with MLD will ultimately become symptomatic, and it will be too late. But they may be able to spare their future children now knowing it’s genetic. Just as we have with Livvy and Keira, families across the nation will be forced to lose one child in order to save another. Which is absolutely unacceptable when there is this life-saving treatment available in the U.S.

So, what do we as a community do? We speak up.

Last year, myself along with many other MLD families made public comments to the ACHDNC in support of adding MLD to the RUSP.

You can view my remarks (with Livvy by my side) below at the 1:33:52 mark.

Today, on Friday, May 10th, I’ll be speaking with the committee again. But this time, I’ll have Keira with me so they can see for themselves the power of this gene therapy treatment to not just transform but save lives.

To think this therapy has been approved since March 18, 2024…just imagine how many babies have been born since then whose parents have no idea their child could become symptomatic with MLD and by the time they find out it will be too late.

That is exactly what we are trying to prevent. Hopefully they hear us loud and clear.