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!

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:

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.

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.

Arizona Senator Nancy Barto

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.

Saving Jana

Every time I hear about another family with a newly diagnosed child with MLD I feel nauseous. The same feeling I felt for literally months after receiving Livvy and Keira’s diagnoses. And this week I learned about Jana Tourjee, a 6-year old vivacious little girl from New Jersey who was diagnosed with the juvenile form of MLD, who was promptly approved to receive treatment with gene therapy in Minnesota and then just as promptly denied coverage by their insurance – Aetna.

6-year old Jana Tourjee

If only it was Blue Cross Blue Shield who has now covered two cases for gene therapy, our Keira and sweet Celia Grace

While we have a team of supporters in the MLD community fighting for Jana behind the scenes, she needs everyone’s help. In one week, they need to raise $300,000.

The Tourjee family is now in a literal race against time, just as we were last year to save Keira.

Were Jana not to receive treatment, this very rare genetic brain disease would begin to destroy the protective fatty layer (myelin sheath) surrounding the nerves in the central nervous system and then aggressively take away motor function and other abilities. She would then potentially pass at 12-14 years of age, the average life span for children with the early juvenile form of MLD.

To help the Tourjee family save Jana, please donate at their GoFundMe page here: https://gofund.me/f2a831d3.

And, should you have a contact within the executive team at Aetna. Please contact them. Share this story. Share our story. Gene therapy should be covered by all insurance companies. The up front $300,000 would literally save them millions should they leave this disease untreated.

For more information on MLD, visit CureMLD.com or MLDFoundation.org.

The Tourjee family.

11/24/2021 UPDATE: I just heard from Jana’s Mom, Jen Tourjee, and Aetna just APPROVED the treatment!! We have goosebumps over here and hope this ripple effect from Blue Cross Blue Shield will lead to a quick FDA approval and the opportunity of a long life for so many more children!

When Kindness & Compassion Make History

Today, we helped make history. Albeit, a small part. But it will save the life of a girl diagnosed with MLD. And to me, that is everything.

Just days ago I was informed of a 4-year-old girl from Alabama who was diagnosed with the juvenile form of Metachromatic Leukodystrophy (MLD) –  the same disease, but a different form, that Livvy and Keira have – and who was currently in Minnesota ready to be the first child with MLD to receive gene therapy in the United States.

4-year-old Celia Grace Hamlett

Orchard Therapeutics had donated the therapy itself (as they did for Keira in Italy), the FDA even offered approval on this one-time basis. But Blue Cross Blue Shield of Alabama suddenly denied coverage. Her life-saving treatment immediately came to a stand-still.

The Hamlett family – Mom Kassie, Dad Gary and daughter Celia Grace – were devastated. There they were at the Ronald McDonald House in Minnesota with their dreams of a normal life for their daughter thwarted. Without this treatment she could potentially only live to the age of 13 (the average life span of children diagnosed with the juvenile form of MLD).

Maria Kefalas of CureMLD.com looped me into the conversation regarding helping this family and I couldn’t not do my part. I immediately wrote up a press release that we could use on a local and national basis to share the Hamlett’s story with the media and how they now needed to raise the $300k that Blue Cross wouldn’t cover (despite the coverage costs of her care without it being in the millions). We had one week to do so.

My next step? I had to contact Blue Cross Blue Shield of Arizona. They are the reason we were able to stop fundraising sooner than expected for Keira. They heard our story last year, and their kindness and compassion outweighed the red tape.

As one of their executives once said on a Zoom call “we are building the plane as we are flying it”; this was NEVER done before in the history of the United States insurance coverage for MLD. But they managed to cover treatment costs for Keira and the rest of the money we raised went to travel, lodging, food, expenses, and a fund for all future travel for the trips to Milan that we would have to make every 6 months for the next decade of Keira’s life.

Now, I was asking them to help one more child. But unfortunately the policies for claims and coverage varies from state to state. So they reached out to the Alabama reps to share their experience in Keira’s case in hopes it could help 4-year-old Celia Grace.

Just two days later, today, I received a call from Gary and Kassie Hamlett…they had just gotten off the phone with Blue Cross Blue Shield of Alabama who decided they will now cover everything for Celia Grace (after their case was already denied twice). It was truly a miracle. And as we have seen/heard many times before in recounts of historic moments, it is kindness and compassion that made history.

Celia Grace Hamlett will now be the first child to receive gene therapy for MLD in the US.

I am beyond honored to have been a part of this wonderful family’s journey; to have saved another child even though we couldn’t save our dear Livvy. I hope to one day give the Hamletts a huge hug and see Celia Grace and our Keira playing together as any “normal” kids would.

Yes, the world is constantly changing. But I truly believe it is kindness and compassion leading the way.

When Tragedy Results in Research

One part of our story that some people don’t know is that Dave and I both got genetic testing done prior to having kids. Not because we knew of any issues in either of our family; simply because my doctor was offering it and we figured why not? Better safe than sorry. 100+ rare diseases were on that test, including MLD. So you can imagine our surprise upon the girls’ diagnosis because MLD had come back as NEGATIVE for both of us!

How could this happen, you ask? You bet we inquired after looking back at those tests.

After sharing this information with our daughters’ neurologist – Dr. Vinodh Narayanan, founder of Arizona Pediatric Neurology & Neurogenetics Association – he helped us look into the reasoning:

Apparently, the company who ran the tests, called Counsyl, only tested for the 5 most prevalent gene mutations that resulted in MLD. Of course, the mutations we both have are more rare.

The chances of us meeting and having kids with MLD? Literally 1 in a million.

While there was nothing we could have done differently to change this outcome, Dr. Narayanan was inspired by our family’s story and wanted to do something to help others avoid this occurrence.

Within the year, he had written a proposal based on our family which is aimed at determining the use of Whole Genome Sequencing as a tool for pre-conception genetic testing in couples. With the idea being that preventing recessive diseases (like SMA, or MLD) would be better for families and society, rather than diagnosing after birth (either by newborn screening or after symptoms appear) and even gene therapy (which can have a price tag in the millions).

Not long thereafter, his projected was given the green light by the Flinn Foundation.

It’s goals:

  1. Develop an “analytical tool kit” with which to analyze WGS data from couples – to identify risk alleles (variants) that could potentially cause autosomal recessive or X-linked recessive disease.
  2. Figure out what are ethical and moral issues that have to be tackled
  3. Develop a program for counseling couples based on such WGS data.

I was tearing up when Dr. Narayanan told me during a recent visit that “I am confident that within the next couple of years, WGS (whole genome sequencing) and appropriate analytical tools will be available to couples who are planning their own families.”

To know that soon any couple within the US will be able to get a comprehensive genetic test that fully explores all potential gene mutations that cause diseases like MLD is absolutely amazing.

No child should have to suffer from a disease like this and no parent should ever have to lose a child from it. While I know there is some research happening for a cure for those who are symptomatic, it is such a relief to know that we will soon be able to prevent a disease like this entirely.

We are forever grateful to Dr. Narayanan and his dedication to families like ours. Truly one of our guardian angels on earth! ❤

Keira visiting with Dr. Narayanan this week.