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!
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.
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.
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.
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.
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.
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.
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!
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.
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.
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.
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.
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.
Figure out what are ethical and moral issues that have to be tackled
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! ❤
Rod Paige (the 7th United States Secretary of Education) once said “There is no more powerful advocate than a parent armed with information and options.”
Now, as a special needs parent, I fully understand the truth in this quote.
Yes, every parent must know that part of their job is advocating for their child. It’s common sense, right? We all want what is best for them.
But, prior to January 2020, when I was just your average Mom with normally developing kids, there really wasn’t a need for me to advocate for them. We of course would research the best schools, pediatricians and other options out there but that was every day stuff that parents do.
In the past month alone I have done more advocating for Livvy than ever before.
Getting anything you need or want for your special needs child is a MAJOR task. And don’t expect for companies or vendors you work with to follow up with you. None of them will. It has been our job to do all of the follow up to ensure she is getting everything she needs when she needs it.
I have had to text our pediatrician requests on 8 separate occasions.
I have had to call a new pump company we are transferring to for Livvy’s GTube supplies 10+ times.
We have had 3 meetings to trial eye gaze devices, with a follow up meeting to come, before we decide on one and then wait weeks to months to receive it.
I have had to speak with our neurologist about medications twice.
I have had to schedule PT, OT and feeding therapy appointments.
I have had to personally email prescriptions and referrals from doctors to vendors because their fax number isn’t working or they gave me the wrong one. Side note: can we please stop using fax machines?!?!
The list goes on. Keeping Livvy as stable as possible is a full-time job. Especially as her disease progresses and her needs (medically and for physical comfort and mobility) change.
To any parents who are new to the special needs run around, know that you are not alone. The frustrating back and forth and hoops to jump through is (unfortunately) normal. It is up to YOU to make sure your child is getting what they need.
Support systems through DDD and the like offer some wonderful assistance but it still requires work on the part of the parent to get the ball rolling when it comes to getting any kind of device or specialized care.
Be your child’s voice. Be their strong arm. Go with your gut. You do know best.