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.
I’m finally coming up for air from Easter weekend. And I’m still exhausted…mentally.
As with most holidays since receiving Livvy’s terminal diagnosis that stripped her of her abilities to walk, talk, and enjoy so many things in life, I dread them. Holidays are no longer what they used to be. They’re all now a glaring reminder of everything our daughter can no longer do.
While you would probably never know that by seeing me during the holidays because we keep things as absolutely normal as possible for the girls, I have to mentally prepare before each one.
How do we keep Livvy as involved with her sisters as possible? What “toys” do we get her now that she can’t even hold on to anything? What can we do to still give Keira and Eva the same opportunities as we normally would but not exclude Livvy? How can we have her help us decorate? Will the clothes we order be stretchy enough to go over her arms when she’s having trouble straightening them? What equipment and supplies should we bring if we have to go to a grandparents house? The questions go on and on.
It’s exhausting. And stressful. And sad.
But these are the things parents of children with MLD have to think about.
Not to mention the fact that with each passing holiday, we are one more holiday closer to her not being here. Which, as I write this, I suppose is a true statement for all of us but not a thought that is as omnipresent as it is for a parent of a terminally ill child.
Will this be her last Easter? Her last birthday? Her last Christmas? I think that thought on every holiday.
This Easter was particularly hard because Livvy was battling her 5th UTI in a row, spiked a fever and then had a seizure the morning we were going to take them all to meet their cousins at a nearby farm for an egg hunt with fair rides.
With an Easter excursion out of the plans for her, it was all about rest, relaxation, keeping her food and meds down and doing whatever we could to get a smile back on her face.
Thankfully, we got a new, additional medication prescribed (Augmentin), and it’s doing the trick to get her well. We are hoping it keeps these infections at bay (since Keflex did not) as we prepare for her 5th birthday next month. A very happy occasion, absolutely, but another event that will take its toll both mentally and emotionally.
To my fellow parents of terminally ill children: stay strong and don’t feel bad about taking a break after the holidays. I know I always need one, and Lord knows we ALL deserve it! ❤️
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.
Keira on the playground at schoolKeira and Eva with Clifford, the big red dog.Keira at school on Ground Hog’s DayClimbing the geodome in our back yard (something Livvy could never do)Keira and our new puppy, Penny LaneKeira at gymnasticsPutting on makeup at her vanity.Swinging with Livvy
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. 🥰
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.
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.
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:
“Now, critically ill patients can get access to these groundbreaking treatments here in Arizona, so no family has to go through what the Riley‘s did.”
SB 1163, sponsored by @NancyBarto, was just signed into law. Hear how this bill will create new opportunities for Arizonans. ⬇️ pic.twitter.com/b0kkGMSOtn
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.
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.
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 DaveThe Rileys and the HamlettsDave with former Eagles quarterback Ron JaworskiThe 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!
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.
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.
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.
The Riley's Road to Italy 