metachromatic leukodystrophy

Secretary Kennedy Adds MLD to Nationwide Newborn Screening

It took me a moment to come down from the momentum, adrenaline, shock, relief, celebration and joy that came from the last month of 2025. The hopes/wishes I expressed in my last post turned into a reality. On Tuesday, December 16, 2025, Secretary Robert F. Kennedy Jr. added both MLD (Metachromatic Leukodystrophy) and DMD (Duchenne Muscular Dystrophy) to the RUSP (Recommended Uniform Screening Panel) – AKA the foot prick blood test that every baby gets after they’re born.

And it happened much sooner than I expected.

Following our most recent visit to D.C. in the beginning of December (where Keira and I had a meeting at the White House and spoke on a panel at a Congressional Briefing), just a few days later we were invited back for an intimate meeting with Secretary Kennedy. Little did we know, this meeting ended up being a ceremony that was live-streamed and one hour before it started I was told that they would like me to say a few words.

As we walked into the “meeting” room in the Hubert H. Humphrey Building on Independence Avenue, we were surprised to see a U-shaped seating panel in front of many flags with two TV screens on either side. A giant camera was in the middle to live-stream the occurrence and behind it were rows of seats. We assumed these rows were for us, the MLD families in attendance. A few seats had names on them but none for us. As we settled in, Dave turned to me and said “I think your seat is actually up there…” pointing to the U-shaped panel. Shockingly, he was right, it was Secretary Kennedy seated next to his Chief of Staff Dr. Stephanie Haridopolos and to her left was myself, followed by two other parents. To the Secretary’s right were a number of Governors who had supported the reason we were all there that day: to add these two rare diseases who have known curative treatments to nationwide newborn screening.

I didn’t know until that morning what exactly was going to happen at this meeting. And I was in tears when we found out. It was hard not to tear up again as it came time for me to speak, but thankfully I held it together and kept my remarks short and sweet. As I mentioned in my remarks, it was an extremely bittersweet moment with Dave, myself, Eva and Keira in attendance while Livvy was at home with her Grandma, unable to walk, talk or benefit from the treatment her sister received 5 years ago.

But thanks to Secretary Kennedy, his team at HHS, the Governor’s in attendance, as well as those who helped support these efforts along the way – including AZ Congressman David Schweikert and Representative Greg Stanton – soon, no other family will have to live through what we have: losing one child in order to save another.

It truly is a miracle that just over 5 years had gone by since the girls were diagnosed, and in that time the treatment Keira received became FDA approved and now it’s been added to recommended newborn screening panels for the United States. The many families before us have truly paved the way, and worked for decades to get to this point. I sincerely hope the speed with which the treatment became FDA approved and the time until screening is recommended continues to lessen. For MLD alone, one baby is born with it each week. So the longer we wait to implement newborn screening, the more babies will face the same fate as our daughter Livvy (an average lifespan of 6 years old).

And while this addition is a monumental step forward for families like ours, our work isn’t done. Now, the 15 states that are RUSP-aligned (AZ among them), have to actually set up their labs to include the test for MLD. Which can take up for 18-24 months.

Since we returned from D.C. on December 17th, I’ve already emailed both Congressman Schweikert and Representative Stanton’s office, sharing Secretary Kennedy’s actions to include MLD and DMD, along with why it’s so important to implement testing sooner rather than later. I hope that the state of Arizona and its newborn screening department realize the gravity of this situation and how many lives they will save by acting swiftly.

See the full live stream of the ceremony here:

See below for a post from HHS from this meeting, that includes a group photo along with a shot of Secretary Kennedy giving Keira one of his challenge coins.

And below is an article from our local newspaper, the Ahwatukee Foothills News, recapping our family’s journey to this point.

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.
Kendra Riley smiles as her daughters Keira and Eva play around during a briefing event “Protecting Families and Securing Futures: Newborn Screening for Metachromatic Leukodystrophy (MLD)” at a briefing room in the US Capitol in Washington, DC on May 6, 2025. Keira is a survivor of MLD because she was able to receive the care she needed in Milan, Italy.

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.

Livvy’s 6th Birthday Par-Tay

On May 21st, 2024, we hit a milestone we honestly didn’t expect: Livvy turned 6 years old! 

With the average lifespan of a child with late infantile MLD being 6 years of age, it’s a number that’s always in the back of your mind as a parent. But every MLD kiddo is different. Some pass a year after diagnosis, some live to age 12…doctors will never predict this timeline because the disease is so rare, and there’s no way of telling the medical journey each child will take.

Within the past 6 months, she’s declined so much. One day, her oxygen levels would be at 81% and her heart rate at 180…we think “this is it”. Yet the next day, she wakes up smiling. Throwing up one week, seizures the next. It has been a rollercoaster.

I, honestly, did not expect her to make it to her birthday. But I also knew we had to make it a big deal. So despite the “what ifs” rolling through my mind, the planning began.

For the theme…we knew since seeing Taylor Swift’s Eras Tour on Disney+ all three girls have become major Swifties (Taylor Swift is even on Livvy’s eye gaze device so she can request to watch the concert). So, naturally, we asked Livvy…do you want a Taylor Swift birthday?? And she got the BIGGEST smile on her face.

From the invite, outfits, and decor to the cake and party favors, everything was Swiftie themed, and approved by Livvy.

Here’s a glimpse of her special day, along with some links to things I bought, in case you’re planning a Swiftie party of your own!

The invite, and some of the things we bought, to make the day extra special:

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.

FDA Approves Gene Therapy Treatment for MLD

It’s been a while since I’ve posted to the blog, but not for lack of updates…lack of time.

While much has happened since my last post in November 2023 (Keira turned 4, I continued advocacy efforts for Right to Try 2.0, which you can read in the Wall Street Journal, USA Today and The Epoch Times and all three girls immediately became Swiftiies after seeing the Eras Tour on TV). But one of the most important updates is that the FDA approved the gene therapy treatment Keira received in Italy (called Libmeldy in Europe and Lenmeldy in the US)!

If you haven’t yet read the details of the FDA approval, you can find it here.

We have been overwhelmed with emotion, thinking of all the families who will be spared from losing a child to this disease now that this treatment is approved. A huge round of applause goes to all of the doctors, nurses, advocates, gene therapy families, and many more who have had a role to play in this process. It has been years in the making!

Since the approval, I have also had the honor of sharing the girls’ story with CNN and NewsNation, which you can watch here:

It’s always bittersweet to share the girls’ story with the world, but I know it’s an important one that is helping to create massize change for other families like ours.

Thank you to all of you have been along with us on this journey!

Next step: getting MLD added to nationwide Newborn Screening so that all babies are tested in time to actually get the FDA approved treatment! More on that soon…

Keira’s 3-Year Post Gene Therapy Check Up

I can’t believe it’s been three+ years since Keira received this life-saving treatment. As we do annually, one of us heads back to Italy with her, along with Eva and one of our Moms (while the other stays home with Livvy), for her usual check up.

But this is not just your typical pediatrician visit. It’s 4-5 full days of various tests, blood draws, and evaluations to ensure everything internally is working as it should and that there are still no signs of MLD.

Here is what each day entailed:

Day 1

  • Basal Blood Sample + Urine Tests
  • EEG
  • General Clinical Evaluation
  • Audio/Visual Evaluation
  • Left Hand Wrist X-Ray to determine bone age
  • Cardiological Exam + Echocardiogram and Electrocardiogram

Day 2

  • Psychological Exam

Day 3

  • Abdomen + Thyroid Ultrasound
  • Neurological Motor Examination

Day 4

  • MRI
  • Bone Marrow Aspirate
  • Electromyography
  • Lumbar Puncture
  • Blood Draw

Day 5

  • Endocrinological Evaluation

I am happy to report that all of her tests (so far) have come back great! The white matter in her brain that, as a baby, showed some inital signs of degeneration have actually now shown signs of regeneration in the MRI. There is no other word for it than miraculous.

And Keira handled it all very well, all things considered. When we spoke with her on WhatsApp one day, she nonchalantly said, “Oh ya, I just got a blood draw at the hospital.” Then continued on with the conversation about the playground they went to the other day.

We knew she was doing well, and is even advanced in some areas, but to have this confirmation from the doctors that everything internally is just as it appears externally, is a huge relief!

It is amazing to see her grow and develop in ways we never got to see with Livvy, and we can’t wait to see what the future holds for Keira.

Because all went so well, we now only have to go back every other year for check-ups. See you in 2025, Milano!

See a few photos from her time at Ospedale San Raffaele below:

A Sound Bath for Livvy

As Livvy has continued to regress, we have noticed one thing has remained true – her love of music! After getting a facial recently at Nourish Face & Body, the owner Brooke used these chimes during my session that I instantly knew Livvy would love, called Koshi Chimes. We bought a set for her 5th birthday, and hearing them always makes her smile.

After sharing that with Brooke, she asked if Livvy would enjoy a sound bath (or sound healing session). It was something we had never even considered before – she usually just receives music therapy once a month through Hospice of the Valley – but jumped at the chance for her to have a new experience and got it scheduled.

So, what is sound healing? It’s a therapy that uses different sound waves to balance energy in the body and enhances relaxation that taps into your parasympathetic nervous system calming and resting the entire being.

And Livvy LOVED it! She was smiling and taking nice deep breaths through the entire session.

For a child who cannot move on her own or speak for herself and her body is going through SO much internally, we were thrilled to find something she could enjoy so much.

Brooke shared that sound healing improves energy, physical and emotional health and well-being, and can release stuck energy in the body. 

Some other key benefits of sound healing include:

1. Reducing anxiety and depression
2. Enhancing immune function
3. Reducing stress and promoting relaxation
4. Reducing pain and inflammation
5. Improving focus, concentration, and clarity
6. Enhancing mood

Sound healing can benefit people of all ages and health statuses. From those who need relaxation and stress reduction to those with physical and psychological health challenges. It can be particularly helpful for those with chronic pain, anxiety, and depression. 

For more information, or to find a spa that offers this in your area, a quick Google search should do the trick. But to see more about Nourish Face & Body, visit: www.nourishfaceandbody.com.

What a Miracle Looks Like

I recently took these photos of Keira when she was playing on Livvy’s Make-a-Wish swing set, and I can’t stop thinking about them. I’m sure to a “normal” parent, this would look like everyday life. But to me, seeing Keira’s face in both pictures…it just exudes hope, joy, happiness, and gratefulness. Her standing there, so strong…it’s what a miracle looks like (to us anyway). It is something her sister Livvy was never able to do. And the fact that Keira can, will forever blow me away.

I’m sharing these photos here not for just our own memory, but to also give hope to any other family whose newborn receives this diagnosis; to show the advances in modern medicine; to show what’s possible when the government and insurance companies get out of their own red tape and grow a heart; to show what is possible if EVERY child is screened at birth for this disease. Thousands of lives would be saved annually. And so many families would be spared of the devastation, grief, and heartbreak that comes with losing a child. Instead, they would get moments like these.