advocating

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.

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…

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.

Right to Try 2.0 Passes in Arizona

After testifying at the Arizona Senate and House of Representatives, sharing our family’s story and how the expansion of the original Right to Try Bill could help families like ours, I’m thrilled to share that Right to Try 2.0 has passed and was signed by Governor Doug Ducey!

Right to Try 2.0 is a first-in-the-nation reform that will empower seriously ill Arizonans to access personalized treatments that have yet to receive full approval from the U.S. Food and Drug Administration.

Goldwater Institute

We had the pleasure of meeting Governor Ducey last week during the Ceremonial Bill Signing at the Arizona State Capitol. The girls were thrilled to go (after a quick lesson in US government so they knew what a Governor, Senator and a Bill is).

Governor Ducey, Senator Nancy Barto and myself all spoke before he signed the Bill. You can view a portion of that here:

The Goldwater Institute’s Right to Try for Individualized Treatments reform builds on the original Right to Try law and protects patients’ right to try to save their own lives by seeking treatments tailor-made for them that are not yet FDA-approved. This common-sense measure accounts for new innovations in medicine and helps get those innovations to the patients who need them the most.

As I mentioned in my speech, the United States is the greatest country on earth and access to life-saving medical treatments should be among its many benefits. We are thrilled Arizonans now have that right and are hopeful other states – and eventually the nation – will follow suit.

You can read more about Right to Try 2.0 and our efforts here on Reason.com.

And here some photos from the signing at the Arizona State Capitol:

Photos by Neal Mei Photography, courtesy of the Goldwater Institute.

Armer Foundation Gala

In 2020, when we knew we had A LOT of money to fundraise to save Keira’s life, Dave’s Aunt Malinda suggested her friend Jennifer’s non-profit as a supplement to fundraising on GoFundMe. I had never heard of The Armer Foundation for Kids before and was a little skeptical at first but after some research and reassurance, accepted the additional help.

Not only did they create a fundraising page on their website (which took ZERO fees out for processing, like GoFundMe does) but they made flyers, t-shirts, told everyone about us and even held a yard sale in the middle of the scorching AZ summer at our house. And they are a big part of the reason why we made it to Italy.

After going through this experience and seeing all they did for us I knew I had to help. When we got back from Italy I told Jennifer I wanted in. I wanted to do whatever I could to help other families like ours. And I’m honored to say that ever since then I’ve been a board member.

Through my PR agency, I help the other families they are fundraising for to get on TV, get their stories in the paper and raise awareness to increase fundraising for their choldren. It has been amazing to give back in this way when I know that insurance doesn’t cover it all.

And another way is attending their annual gala – their biggest fundraiser of the year which just took place on August 6th at Ashley Castle in Chandler, Arizona.

It was an incredible evening, emceed by Tess Rafols of 3TV, that showcased some wonderful musical talent, an amazing silent auction and the heart-wrenching stories of the Armer Foundation families who are in need of financial support for their children.

To learn about these children and their stories, and donate, visit www.armerfoundation.org/armerkids.

Jennifer was also kind enough to mention our family at the gala and how that yard sale for Keira inspired her to open their thrift store (located at 9830 S 51st St Suite A128, Phoenix, AZ 85044). For any items you have to donate, please consider taking them there and helping these families.

For all other info, visit www.armerfoundation.org, or connect with them on Facebook.

Dave and I at the Armer Foundation gala.

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
The Rileys and the Hamletts
Dave with former Eagles quarterback Ron Jaworski
The Hamletts giving an award to Dr. Paul Orchard

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.

Breaking Records at Wish Ball

A few months ago, we were approached by Make-A-Wish Arizona to see if we would interested in sharing Livvy’s wish (her swingset) in a video that would be played at their biggest fundraiser of the year, the Wish Ball.

If I’ve learned anything from this journey so far it’s that sharing our story can only help others. We said yes, filmed it in our backyard with the girls and below is the final product which was played during live auction and Fund-A-Wish portion of the evening at Wish Ball this Saturday.

After this moment, records were broken. The Wish Ball raised more money that evening than they ever have before. And we are so honored to say that Livvy was a part of that. That her story is now helping other children get their wishes granted.

Take a moment to watch it below and if you feel so inclined help Livvy give more kids their wishes by donating to Make a Wish Foundation of Arizona here.

Thank you Make-A-Wish Arizona for not only giving Livvy her wish, but also giving her sisters (and us) memories with that will last our lifetime.

More photos from the evening below:

Livvy, the Sparrow

Last year after we returned from Italy for Keira’s treatment we were connected with a non-profit organization called Sparrow Clubs USA which is based in Oregon but getting into the Arizona market and looking for a family – in particular a child with medical needs like Livvy – to partner with as they launched their first Sparrow Club at Hamilton High School in Chandler, AZ.

After hearing the story of how Sparrow Clubs began and what it does for high school students, as well as families who have children with extreme medical needs, it was a no brainer that we wanted Livvy to be part of the impact it would make on our local community.

To put it simply: “Sparrow Clubs exist to set the stage for simple, yet heroic, acts of kindness in schools and youth culture by empowering kids to help kids in medical need.” And as Matt Sampson (the Executive Director of Sparrow Clubs) and their community partner Amy Anderson of Black Rock Coffee explained, Hamilton High would adopt Livvy as their first “sparrow”, the entire student body would do up to 300 hours of any kind of community service work and as they did so it would unlock the funds that Black Rock Coffee donated for Livvy.

Sparrow Clubs made flyers for the school, created this lovely video about Livvy (which brought us to tears), and before we knew it we were touring classrooms at Hamilton High this week with the Student President of Hamilton’s Sparrow Club Richa Churravuri.

Students watched the video, learned about Sparrow Clubs from representative Cory Burket, I briefly told our family’s story and the kids all lined up to meet Livvy and give her a fist bump. She loved it!

Livvy with us amd the teams from Sparrow Clubs, Hamilton High School and Black Rock Coffee.

The following day (today) we were invited to their school wide spring assemblies which were divided into two assemblies on the football field due to the school size (4,000+ students) where Richa got to speak about Sparrow Clubs, how students could get involved and to introduce Livvy.

It was a really cool experience for her (and us) as she got to meet the Hamilton Husky mascot, take a picture with the cheerleaders and get cheered on by all of the students. I overheard one student who met her yesterday yell out “LIVVY! That’s my girl!”

And as I shared with someone today, having her be a “sparrow” and part of this experience is not about the funds for Livvy’s new stroller but more so about the impact that meeting her and being a part of her story would make on others. How it would instill kindness, compassion and empathy in these students, and ultimately make a ripple effect of kindness in our community.

We are honored to be a part of this experience and hope to see more Sparrow Clubs throughout the state.