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.
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.
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.
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:
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.
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.
Quarantining in Keira’s room
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!
While we are still waiting for one last result (regarding any ARSA antibodies), I couldn’t think of better news to share to end the year: all of Keira’s other testing from her 1-year post gene therapy appointment have come back great!!
We are beyond overjoyed and so releived to know her MRI looks perfect, EEG was normal, her audio/visual nerve testing was “glorious” said the doctor, and all other bloodwork is in normal range.
The last test she had was for her neuro psych evaluation, which we were not worried about at all given her speech language pathologist’s recent assessment. But there is always that what if…
Dave had taken her to that appointment that morning (because only one parent is allowed still due to covid) and we were both so busy with work and the girls’ schedules that day that I didn’t see him until near dinnertime. Finally, he gave me the results: “She was above average in all categories…except communication.” I looked at him shocked because she is speaking so well and then he finished…”in which she was extraordinarily above average!” 😁👏🏻🎉
PHEW!! So much relief just washed over me.
We are so incredibly grateful that her body has accepted this treatment and she is doing so well.
At this stage Livvy was already losing her abilities to walk and talk so it truly is a miracle and a joy to see Keira developing and doing new things every day.
Livvy is on the left at 23 months old versus Keira on the right at the same age. Livvy needed to hold on to walls and was having trouble walking but could still sit up on her own, where as Keira is full on running.
We are in awe of Keira every day and so grateful Livvy has been her guardian angel on earth.
Words cannot express our gratitude to each and every one of you who has been a part of our family’s journey to help Keira have the chance at the normal life that was taken from Livvy due to this terrible disease.
We wish each and every one of you a Happy New Year!
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.
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!
Yesterday, October 2, 2021 was Keira’s 1st “re-birthday”, one year from the date that she received her renewed stem cells that would allow her to live a normal life.
It is beyond surreal to say that our almost-2-year-old is a 1-year survivor of MLD, of all things! And it is even more surreal that she is doing SO many things that Livvy never could because this very disease had already begun stripping away her abilities at this age (21 months old).
Just some of the things she can do now that she wouldn’t have been able to without treatment:
Walking
Talking in sentences
Running
Climbing
Walking up steps
Counting to ten
Learning her alphabet
Spinning around
These simple things, that we as “normal” parents can take for granted, are things that amaze us on a daily basis.
We are beyond grateful for so many people who helped us get her this life-saving treatment – not just the doctors and scientists who made it possible but the nurses, the hospital staff, the volunteer families in Italy who helped us during our stay, our own family, friends and even strangers who became so invested in our girls and their journey.
The connections we have made are priceless and Italy will forever have a special place in our hearts. We are looking forward to returning next year for her next check up. ❤🤍💚
Here is a flashback to one year ago today at Ospedale San Raffaele:
The Riley's Road to Italy 