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.

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:

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.

3 Years of Keira

Wow. It has been a minute (or more like 6 months or so) since I’ve actually posted an update here. Life, travel, advocacy, parenting, work, holidays and everything in between has taken up our time and if there’s one thing I know: time with our girls over anything else is time not wasted.

Now that I have a few minutes, I wanted to share an update on Keira. She is officially 3 years old (as of January 9th) and you would never know she was diagnosed with the same disease as her sister, who is enrolled in Hospice. The difference between the two is night and day.

We are always looking at Keira in amazement over one thing or another. If it’s not her ability to run and climb, it’s how advanced she is in communication (she has since moved up a level in school because of it) or her love of make up or her opinions on our attire, or her skills at back seat driving. I wish I could share a video of her every single day because the world (and more particularly the FDA) needs to see what gene therapy for MLD (Metachromatic Leukodystrophy) can do. It’s truly been our miracle.

Just for fun…we asked her the following questions so you could get to know her right now:

1. If you won a million dollars, what would you buy?
A Barbie Lego!

2. How long does it take to get to Italy?
Far

3. What job would you like to do when you grow up?
Elsa

4. At what age do you become an adult?
16

5. If you could be a superhero, what superpower would you have?
I can use powers, and I can make ice.

6. What is your favorite animal?

Seahorse and horses.

7. If you could eat one thing for the rest of your life, what would it be?
Mac and cheeeeeeese!

8. What’s your favorite color?

Pink and Orange

9. What does love mean to you?
It means I love you!

10. What’s your favorite movie?
Elsa and Anna

11. Where did you go in Paris?

The Eiffel Tower!

While she is definitely a “three-nager” and quite sassy and independent, we always remind ourselves that even the hard days are miraculous days. Had she not received this treatment, she wouldn’t even be speaking at this point. So even a “No!” Or “I’m not going to!” response is internally met with a bit of joy on our part. We never got these moments with Livvy so we cherish it all; the good, bad and the sassy. 🥰

Advocacy in Atlanta and London

This month has been a whirlwind of travel – first to Atlanta to speak about Right to Try 2.0 at the State Policy Network’s 30th Annual Conference and then to London to speak about the gene therapy Keira received, how it has transformed her life and how we are helping other families like ours. Next? To Milan for Keira’s 2-Year post- gene therapy check up! Time flies!!

I was so honored to be included in these opportunities this month and I hope it only sheds a light on the legislation that needs to change to help families and patients like our daughters.

I was shocked – in a good way – to see Keira’s sweet face on every seat in the room when I walked in to speak. The face of hope for other patients striving to get that one treatment in the world that could change their life right here at home in the US, as opposed to having to raise money and uproot their lives for access to life-saving treatments.

I am so grateful for the Goldwater Institute who invited me to SPN’s 30th Annual conference to speak at their panel on “How Your State Can Unleash the Future of Medicine”. They are an amazing organization doing so much across the nation to make positive change. My time with them only inspired me to do more.

From Atlanta, I headed across the pond to London to speak to the staff of the genetics company who was instrumental in treating Keira.

Their 170+ staff rarely get to actually see the results of their hard work so I was amazed at the feedback I received sharing how well Keira is doing today and the work our family has done to help others.

They are true miracle workers and it was an unbelievable honor to meet them and share that it’s because of them we get to see miracles on a daily basis through Keira.

Next stop: Milan, Italy! 🇮🇹

PFDD for MLD on Oct 21st

These letters may not mean much to you but they mean SO much to the MLD community of patients and their loved ones. Because on October 21st, a select group of individuals in that community (including yours truly), get to share their stories in a PFDD, meaning Patient Focused Drug-Development meeting, with the FDA, researchers, clinicians, and other stakeholders. Yes…I said the FDA!

I am blown away that we get to shine a light on this horrible disease and share that there is actually a treatment option out there that can save non-symptomatic patients with this disease, like Keira.

And YOU can be a part of it! Both the speakers, as well as their family and friends, can log on to this Zoom discussion to share what you see first-hand regarding this disease and how a treatment like the gene therapy Keira received could be beneficial (which, by beneficial, I mean the absolute best option on Earth).

Myself and other panelists meeting on Zoom to practice our presentations for the Oct 21st PFDD.

Here is the link to register and join us on Zoom on October 21st: www.mldpfdd.org.

This PFDD means quite a few – very important – things:

1. Our community has raised enough awareness about this terrible disease to get in front of the FDA, researchers and other key stakeholders and share its affect on patients and caregivers and the only treatment options that exist.

2. This could raise awareness for the need for the Newborn Screening panel to include MLD. Because the gene therapy Keira received has come to the US (and is already approved in the EU), we have a way to treat newborns diagnosed with MLD. And unless it’s treated fast, they will end up with a fate like Livvy’s.

3. Once they see the odds this community is up against and the options available, they may be more open to approving treatments for life-ending disease. No child should die by age 6 when they have the chance to live a full life if they were diagnosed at birth.

As part of the panels presenting, I will am getting to share our family’s story in relation to current and future treatments for MLD. Including, the two treatment options we used for the girls (Livvy’s clinical trial and Keira’s gene therapy), any complications that resulted (like Livvy’s internal port in the clinical trial), how we manage Livvy’s symptoms, how Keira is symptom-free nd how willing we are to do anything to give our children the chance at a better life.

Here is the link again to stay up to date and join us online October 21st: www.mldpfdd.org. By registering you will also have access to the September 12th community webinar.

If you or a family member have been affected by this disease I highly urge you to join me – attendees can share their insights too!

UPDATE: to see the full MLD PFDD, including my testimony, it is now online here: www.mldpfdd.org.

2022 Cupcake Gala

It’s been so busy this past month that I haven’t had a chance to update the blog regularly but I can’t not mention our trip to Philadelphia, Pennsylvania last month to attend The Calliope Joy Foundation’s annual Cupcake Gala. One of the special guests in attendance? Our very own Keira.

The Calliope Joy Foundation was founded by Maria Kefalas and Pat Carr, parents of Calliope Joy Carr who just passed away earlier this year – defeating the odds of MLD by making it to age 12 rather than the expected average age of 6. Her journey inspired Maria and Pat to not only do all they could to help their own daughter but to also help make a difference for other families facing this devastating disease.

This all started by selling cupcakes to fundraise, hence the name of their biggest annual fundriaser, the Cupcake Gala at Loews Philadelphia Hotel.

We were honored to be in attendance, not only for Keira to be a special guest but more so to finally meet Maria. It was Maria who informed me on June 20, 2020 (the day after we got Keira’s diagnosis) that there was actually a treatment option to give her a potentially normal life but that we would need to move to Italy to get it. Within 24 hours she introduced us to the team of doctors at Ospedale San Raffaele and our lives were changed forever.

To say we are grateful for her (and her family) is an understatement. She is one of our many angels on earth helping us through this unreal journey.

While there, we also had the chance to meet one of the other special guests, Celia Grace, a little girl from Alabama who we helped get this very same treatment right here in the US. Due to our connection with Blue Cross Blue Shield of Arizona, they were able to work with the Alabama team to get this treatment approved after the Hamlett family had already received two denials. To see Keira amd Celia Grace running around playing with each other like “normal” kids their age was amazing.

Here are a few photos from the Gala:

Calliope’s nurse Peggy, Maria Kefalas, Kendra, Keira and Dave

And here are a few photos from our time sight seeing in Philadelphia:

It was a wonderful trip and we look forward to returning next year!

For more details on The Calliope Joy Foundation amd their annual Cupcake Gala, visit www.thecalliopejoyfoundation.org.

P.s. Maria is also the author of Harnessing Grief, where she shares her own story of how she turned her grief over Cal’s diagnosis into her superpower. That super power? Cal’s legacy and everything the Kefalas-Carr family does for families like ours through the Calliope Joy Foundation and CureMLD.com.

Testifying for Updated Right To Try in the Arizona Senate

Back when we got Keira’s diagnosis in June of 2020 and were figuring out a plan for her treatment I was connected to Arizona Senator Nancy Barto and the Goldwater Institute. With the Right To Try bill having already passed (in AZ in 2014 and federally in 2018) they thought maybe there was a chance for us to use this to our advantage but unfortunately it only encompassed groups of individuals (that could lead to clinical trials); not for individuals on a case-by-case basis.

Fast forward to last week when I was contacted by the Goldwater Institute who asked me to help them expand upon this right-to-try bill by sharing our family’s story and testifying at the Arizona Senate next week. What for?? To expand the bill to cover individuals that need life-saving treatment. My jaw dropped. This is AMAZING.

Former Arizona Senator Barry Goldwater who founded the Goldwater Institute in 1988

Had this been in place when Keira needed it (and the treatment was in place within the US and being offered by the drug company) we could have had her treatment done in the States without having to fundraise hundreds of thousands of dollars and moving our family halfway around the world for 5 months.

So, naturally, I jumped at this chance and on February 2nd will be off to the Arizona Capitol to meet with the Goldwater Institute and Senator Nancy Barto’s Health and Human Services Committee to testify in support of patients getting access to individualized treatments without having to beg the federal government for permission to save their own or their loved one’s life and without having to cross an ocean to do so.

The proposed legislation adheres to the strictest patient protections and physician involvement, ensuring that these treatments work in tandem with the highest standards of care.

Should this pass in Arizona, as the original Right to Try bill did (view more on that here), other states will likely follow suit and then the federal government to follow.

A copy of the bill – the Right to Try for Individualized Treatments – sponsored by Senator Nancy Barto within the Arizona legislature be found here:

https://www.azleg.gov/legtext/55leg/2R/bills/SB1163P.pdf

I can’t even imagine how many lives will be prolonged or saved entirely by doing this and it brings to tears to my eyes thinking of all the other special needs families out there who have always held on to hope for a chance like this. A chance at healing. A chance at a normal life. Something every single one of us deserves.

I am beyond honored to have this opportunity to share our family’s story in hopes that it can truly make a difference. I will be sure to keep everyone updated as this moves forward within the Arizona legislature.