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.

Mother’s Day Rings Different After D-Day

It was a few days before Mother’s Day this year that Dave had to remind me that it was coming up the next Sunday. And immediately I got that same feeling of dread and guilt that I felt on my first Mother’s Day after receiving Livvy’s diagnosis (coined D-Day). I was sick to my stomach.

My first Mother’s Day after Livvy’s diagnosis. She could still talk, still sometimes sit up on her own and we had no idea about Keira’s diagnosis yet. My mom surprised me with Eva’s shirt that says “Strong Like Mom” and it made me tear up (and still does). From the picture you’d have no idea what we were going through. But internally I was broken.

While I know it’s not my or Dave’s “fault’ that this has happened to our children, you can’t help but feel like a bad parent when your child is terminally ill and there’s literally nothing you can do to fix it and make them better.

That first Mother’s Day and Father’s Day after we received Livvy’s (and then Keira’s) diagnosis were gut wrenching. Dave and I didn’t want to celebrate; we were heartbroken. I felt nauseous for months after receiving the news. It was one of the worst times of our lives knowing not one but two of our children has this terminal illness for which there was no cure. Why would we then turn around and celebrate us as parents?

Mother’s Day, and Father’s Day, suddenly went from being days to celebrate us as parents to days we dread.

While it seems each year it has gotten a tiny bit easier for me to process, it’s still a day I do not want to celebrate. I’d love to erase it from the calendar altogether if I could. But I know each year Eva, and soon Keira, will come home with gifts for us that they made at school. And we’ll be forced to put on those smiles and “celebrate,” at least taking comfort in the fact that it’s something the girls enjoy celebrating. For us though…I think it will always be hard.

What we do take comfort in though is the fact that we have done literally everything in our power to get them anything and everything we possibly could – whether it’s the only clinical trial in the world for symptomatic MLD patients, a life-saving gene therapy treatment in Italy for non-symptomatic MLD patients or just all the hugs, loves and happy life experiences we could think of. We would do anything for our girls.

And in the end, I know we deserve to be celebrated. But on days like those we just have to try extra hard to enjoy it.

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.

One-on-One Time for Eva

I would be remiss not to mention how much of a priority it has been for us over these past two years to ensure Eva (our oldest, who is 6), has one-on-one time with Dave and I or time together with just us and not her sisters. Livvy and Keira’s medical journeys have been the epicenter of our world and we didn’t want her to feel pushed aside or overlooked in anyway while we tended to their care.

Thankfully, we have a great support system surrounding us with grandparents that spoil her every chance they get. But they also help with the other girls so we have time with just Eva.

Usually only one of us will take her to her after school activities so we can give her our full attention. Dave and I have regularly taken her to a nearby bowling alley and arcade so the three of us can just have fun together and get lunch. And our latest Eva-only mission included a surprise trip to Disneyland just for her!

We honestly did not think we would be able to pull off something like that. With Livvy in Hospice we really had to ensure our family was prepared both mentally and emotionally should anything happen or her health decline while we were away. Dave and I were both really nervous to leave her (What if she passed away and we weren’t with her? That was a real concern.) But all the grandparents reassured us – she has been doing well lately and her health has plateued a bit thankfully – so off we went.

And we are so glad we did! Eva was so excited it was time only for her and us, AND her first trip to Disneyland to boot! We booked it through John Pagoto of Inteletravel – who was an amazing Disney resource for everything we needed to know, do and see.

We surprised Eva with a Disney shirt hidden in a giant egg on Easter Sunday. Landed in LA that afternoon and off we went to the park for the next 2.5 days.

Her first rides were Haunted Mansion, Splash Mountain and Thunder Mountain. She really jumped right in, but sometimes begrudgingly (and understandably). Her favorite rides? All of the Star Wars ones! Dave was so happy. 😆

And, to be honest, we were all happy. It was a great, much needed getaway, since we always need to stay close to home for Livvy.

That alone time with Eva is priceless and hopefully we are creating some amazing memories for her amidst all of this tragedy. Ways in which she will look back and only remember these great moments being seen, heard and loved just as much as her medically fragile sisters.

Here are a few fun pics from our trip:

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.

From Warriors to Superheroes

We all know that our little girls are warriors. All three of them. But this month, they actually got to feel like superheroes, thanks to the amazingly kind-hearted folks at the Colten Cowell Foundation and Campbell’s Crew Cares.

A friend of the family who had been following our story – and whose son also happens to be a patient of the girls’ neurologist, Dr. Narayanan – nominated Livvy and Keira to have a one-of-a-kind superhero experience. To touch, feel, see and act like an actual Superhero. But not just any superhero. Like Batman.

We were told nothing aside from to be ready for a night we would never forget with our girls. Grandparents were invited. And we all showed up not knowing quite what to expect, aside from a letter we received via email from Bruce Wayne himself inviting us to tour of the world renowned Wayne Research and Development Labs.

The letter read… “It has been brought to my attention that you have shown extraordinary strength and courage in the face of great obstacles. You are an example to us all, and I wanted to personally congratulate
you for the fine precedent you have set. You should be proud of yourself, as I know many around you certainly must be.” Isn’t that the truth?!

Upon arriving at this top secret location in central Phoenix, we entered the office of Bruce Wayne himself where radio host Bruce St. James began the tour. The girls were shown “documentaries” of Batman and Robin (aka the Batman series from the 1960’s, which we had shown Eva before and she made sure to point out she had seen that episode before). This office looked almost identical…the same bookcase that was a secret door (which Eva spotted immediately), the red phone, and the bust of Shakespeare with the secret button. After getting to actually press the button, the girls superhero experience really began.

There was Batman and Robin’s firemen poles down to the Bat Cave…which we all went down – even Livvy! Gadgets galore met us at the bottom and the girls got to touch it all! They were in awe. But the best part was yet to come. Right next to laboratory was THE REAL BATMOBILE! In the room next to it…Batgirl’s Motorcycle, the Bat-copter and other classic cars that were seen in Batman’s “documentaries” of his life.

Suddenly, alarms sounded…there was an emergency and we had to get in the Batmobile immediately! The garage door opened, Livvy and I got in and off we went! As we paused in the parking lot, Dad was invited to DRIVE IT! Everyone took a turn going for a ride around the buildings nearby AND the girls all got to ride in Bat Girl’s motorcycle and sidecar. THIS was what they all loved most. Eva and Keira rode in the sidecar together while I held Livvy for her turn. And remembering that one little ride brings tears to my eyes every time I think of it, just as it did that night. She LOVED it. Livvy may not have words to tell us how she feels but man can she squeal with glee and laugh so hard! She was not quiet that entire ride. Truly unforgettable.

After our joyrides were through, we went back inside and were surprised again to see that they had made checks out in the girls names to both the TGen Foundation (a non-profit dedicated to the research of rare diseases, which is how we were introduced to Dr. Narayanan) and Campbell’s Crew Cares (a non-profit founded by a fellow Wish Kid named Campbell, his mother Carrie and their amazing family), two causes and groups of people that have become very dear to our hearts.

As if that wasn’t enough both Livvy and Keira were given the actual keys to the Batmobile. For Eva? As the oldest, when she turned 16 she would get to come back and drive it herself!

Calling it an amazing night would be an understatement. The first thing Keira said to me the next morning? “I want to ride motorcycle!”

NOW, let me tell you about who made this all possible: the Colten Cowell Foundation, co-founded by Erika Cowell and Charles Keller.

Erika’s son Colten Cowell

By watching how the replica Batmobile he purchased inspired wonder and joy in his own children, Charles knew it was more than just a great set of wheels. Charles could see that sharing the Batmobile was a great experience not just for themselves but something that others should enjoy as well. Colten, Erika’s son who passed away from Leukemia two weeks after his ride in the Batmobile, is the child who inspired it all. And now, the Batmobile is at the heart of this one-of-a-kind experience that transforms children into Superheroes, creating unforgettable memories for families.

We were the 680th family they gave this experience to, they have served 250 charities and raised over $1.5M for other non-profits.

They say it best on their website:

Most children will have a full life to dream — and the luxury of time to make those dreams come true — sadly that’s a much different story for many of the children we serve. For some, their abilities are limited, and for many others their time is running out.

We designed the Superhero Experience to benefit the entire family. For the children, they get to forget that they are sick and simply enjoy being a kid. For the parents, this is an evening to momentarily let go of their worries and share a moment of pure joy with their children. In the end, memories are all we have, and the best are the ones that we get to share with the people that we love. 

THANK YOU to the entire team at the Colten Cowell Foundation for letting us have this evening of pure joy with our girls. It is most definitely a memory we will cherish forever.

For more information on the Colten Cowell Foundation, visit www.coltencowellfoundation.org. You can read Colten’s story here. And for more information on Campbell’s Crew Cares, visit campbellscrew.com.

Finishing Keira’s Room

I am just now finishing Keira’s “nursery” after her 2-year old birthday. Which is probably a surprise to no one. I was brainstorming what exactly I wanted to get to finish it up when we got Livvy’s diagnosis in March 2020. So needless to say, that got put on hold as we had bigger things to deal with.

I’ve thought about finishing it a handful of times this past year after getting home from Italy and always put it off. My thought process was “Why decorate it when Livvy could leave us any day and then i would just move Keira into Livvy’s old room so she and Eva could be closer?”

So I waited. A year.

MLD kiddos seem to have peaks and Valleys with their disease progression and she has really been on a plateau since having her seizure last month.

So I finally said enough is enough. Keira’s room doesn’t deserve to be on hold any longer. She’s a toddler now and the needs in her room have changed anyhow so I put a stop to my waiting game (which is honestly no way to live in a situation like ours…waiting and wondering ‘will today be the day?’ But that’s a blog post for another day.)

So out went the baby glider/rocker I’ve had since Eva was born, and in went an adorable canopy that I found on Etsy that is a great space for her to relax and play. The photos of her as a baby got moved, a canvas with Elsa and Anna went up, we put her name in lights (also found on Etsy) above her crib (which will surely be a toddler bed before the year is through) and here we are:

The cool space-like light was a gift from their Aunt, Uncle and cousins in Indiana and they all love it!

I was able to do all these changes to her room while she spent the night at a grandparents’ house and she was SO excited when she walked in! I wish I would have filmed it.

Knowing how happy her room makes her makes me wish I hadn’t waited. When you don’t get out much (thanks pandemic) having a space you enjoy is really important and I’m so glad she has that.

But of course now Eva wants her room redone too because Keira got all these new things…so here we go on another project. 😊

A Very COVID New Year

Well, wouldn’t you know it that we started the New Year by welcoming COVID into our home?! On January 1st, Keira – one of the most sheltered of all of us – tested positive after an overnighter with grandparents, one of which also (unknowingly) had it.

Thankfully, only the first day was the worst with 100+ degree on-and-off fevers. And it’s been easy sailing from there. No cough or any other symptoms aside from fever. It’s now been almost 3 days with no fever and we are just awaiting that negative test for her to be in the clear.

To say it’s been quite the first week of 2022 is an understatement. With one of her grandparents also positive, they couldn’t help us juggle work and the girls. Our nanny couldn’t come here. Nor could other grandparents who have auto immune sensitivities. So Dave and I divided and conquered. I have been quarantining with Keira in her room while Dave stays with Livvy and Eva on the other side of the house.

As she gets better and better the harder it is to keep her quarantined. And let me tell you, racing behind her with wipes cleaning every surface or toy she touches is no easy feat. She’s fast!

On top of all this, we just found out another grandparent also has COVID! How this is hitting our family now, after all of our travels abroad for Keira’s gene therapy and Livvy’s clinical trial is beyond me. But here we are!

The first night, I’ll admit I was terrified. While I’ve kept COVID related news on the peripheral (because we have our own life-threatening problems) I couldn’t help but think about the horror stories. And I just had an older friend even pass from COVID. Would Keira’s immune system be up for this after all it has been through? My mind raced.

I couldnt help but think of all the people lost or suffering from this virus. Not to mention the many other diseases, natural disasters and million other dangers we face as human beings.

The amount of suffering placed upon any one person can be insurmountable. Unbelievable. Unfair. Downright cruel. But here we all stand, fighting. Fighting for the light. For the good. For health. For hope. For love. For family.

And fighting is not easy! After the past two years of what our family has been through, do I sometimes get tired of fighting? Absolutely. I want Livvy to be free from pain. I want Keira to live the life Livvy deserved. I want Eva to have her childhood back. I want no child to suffer from MLD ever again!

So to lose Keira from COVID after all we have done to save her, it’s just unacceptable in mind.

Thankfully, the universe and her immune system agree. She’s back to her normal self and soaking up all the alone time with Mom.

While we had to cancel her family-only birthday party on Sunday, we are so relieved to know that we won’t be in a hospital and we will still be able to shower her with the gifts and attention she so deserves. Our baby girl is turning 2!! And she has lost ZERO abilities to MLD thanks to the gene therapy she received in Milan. That is what I plan to focus on remembering from this time in our lives. NOT COVID!

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!