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.

Happy 1st Re-Birthday Keira!

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:

Keira’s 1-Year Post Gene Therapy Check Up

I absolutely cannot believe it has been (almost) one year since Keira received her life-saving gene therapy treatment in Italy (her official re-birthday date is October 2, 2020). Our time in Milan seems like a lifetime ago.

Yet here we sit at Phoenix Children’s Hospital for her 1-year post gene therapy check up!

And I am so happy to say I am not worried about her results one bit! She has been running, climbing and talking more and more each day. She is even advanced for her age in some ways and we are in awe of her every day.

While we normally would need to return to Milan for her follow ups, because of COVID the doctors there managed to figure out a way to do the testing here locally and send back her most important blood work on dry ice overnight to Ospedale San Raffaelle. While I love Italy and have no problem with returning, it is especially nice to stay home for this check up so we do not have to leave Livvy who continues to worsen.

As for the check up itself, we have a busy two weeks ahead which will include the following appointments:

  • Bloodwork
  • Ultrasounds (abdomen and thyroid)
  • MRI
  • Echocardiogram
  • EEG
  • Appointments with Pulmonary, Pathology and Neurology

There might be one more I’m forgetting but needless to say, there are a lot of things they will be looking at to ensure she is developing normally.

The one thing in particular which can only be checked in Italy is one of the results from her bloodwork which looks for any ARSA antibodies. The ARSA enzyme is something her body could not create prior to gene therapy. And now that is does her body began trying to fight it because it wasn’t used to it. However, the antibodies have only gone down in numbers since and hopefully at this point will be completely gone. Keep your fingers crossed for us there!

We will be sure to keep everyone updated once we receive her results. Thank you for your continued prayers, love and support! It means the world! ❤

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.

Enrolling in Hospice

Last week, we enrolled Livvy in Hospice of the Valley. Not because she is drastically and rapidly declining, but more so to have that support system in place for when she does and in order to have physicians come to her rather than putting her in her stroller and driving anywhere (she has always hated carseats and found them very uncomfortable since her diagnosis), or having her anywhere near COVID patients at a local hospital.

Surprisingly, to me, this process was not as difficult or emotionally trying as I thought it would be. Honestly, the hardest part was talking to our palliative care team about end of life scenarios prior to enrolling in Hospice. That is how we came to the decision that it was indeed a good time to enroll Livvy.

And what might come as a surprise to many is that enrolling a child in Hospice is not the same as enrolling an adult. For an adult, Hospice means they have very little time left. For a child, like one with MLD, they could be on Hospice for years (or days…there really is no way of knowing because the disease is so rare). But the point of enrolling a child is not only to ensure end of life scenarios are completed as the patient’s family prefers (at home versus in a hospital with a million tubes connected to them), but also to ensure their comfort until that point arrives.

Livvy’s meds will now be delivered instead of us running back and forth to Walgreens, a Pediatric nurse and social worker will come to the house to check on her every two weeks (or as needed) and a pediatrician will visit every two months (or as needed), and we now have a number to call them 24 hours a day 7 days a week for any medical questions or concerns rather than guessing what’s wrong and having to rush to the ER. Any time, day or night, they will come to her.

For the parents, siblings and patient, this is a game changer. It keeps disruptions and any further trauma to a minimum. We are incredibly grateful to have their support as we contunue to navigate this heartbreaking and unbelievable situation.

For more information on Hospice of the Valley, visit www.hov.org.

One of many lovely photos of Livvy captured by our friend and photographer Kay Eskridge of Images By Kay. ❤

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.

A Sigh of Relief

After about 6 weeks from returning from Keira’s check up in Italy, we finally got the results of the very last test we were waiting on – the main test we went there for because it cannot be done in US labs – to see if her body was still creating antibodies to the ARSA enzyme it now creates.

While we were hoping for a result of zero antibodies, she did still have some remaining BUT it was less than before and because of her development going so well the doctors in Italy are not concerned. We are SO relieved.

They’ll want to do this test again at her next check up in October (which will be one year post-gene therapy) but depending on covid travel restrictions liting up we may be able to do this from home if we can get her blood samples sent to Italy from Arizona within 24 hours.

In the meantime, we will have our fingers crossed that Keira continues to do well and that the antibodies disappear entirely.

Her first trip to an American grocery store. She loved naming all of her favorites (bananas, apples, peaches, oranges, berries)

Livvy’s Wish Came True

Today, thanks to the wonderful souls over at Make A Wish Arizona, Livvy’s wish came true – after only requesting it a few short weeks ago – and she was so happy!

If you saw my previous post, you know it was a swing set for her to enjoy with her sisters. And while parts of it (like the sandbox) still need to be added in, the whole thing is up and was revealed to the girls today – they were ecstatic!

Every time we talked to Livvy about it prior she would get a big grin on her face so I think when she saw it today she was partially in awe; it’s actually here!

And for a girl who normally hates laying down (she will usually just start screaming) she is on Cloud 9 in her magic carpet swing!

To know that she and her sisters will have so many more memories made together with this swing set brings me to tears.

Thank you so so much, Make A Wish Arizona!! ❤🙏🏼

Results from Keira’s 6-Month Post GT Check Up

On May 11th, Dave, his Mom, Eva and Keira returned from a two week trip to Milan, Italy for Keira’s six month check up after the gene therapy she received in October 2020. I stayed home with Livvy since the travel, time changes, etc. would have been too hard on her. And let me tell you those two weeks felt like two months.

While Livvy did seem to regress a bit while they were away, I’m very happy to report that all of Keira’s tests went so well! It’s a bittersweet balance with these two. As one regresses the other progresses. It is truly a miracle that Livvy was able to be Keira’s guardian angel and we got her diagnosis in time to get Keira treated.

Tuckered out after a day of testing on our recent trip to Milan for her 6-month check up.

And what a treatment it was! We will forever be grateful to the team at Ospedale San Raffaele in Milan for their hard work, dedication, compassion and kindness.

Keira went through quite a few tests in the two weeks they were there (see my previous post for a list) and everything is, so far, coming back within normal range!

The doctors said that based on her current development they would put her in the same realm as the children who have had the best results thus far! These children are now 5, 6, 8, and 10 (at the oldest) and are living completely normal lives – walking, talking, playing sports, going to school! Things Livvy will never get a chance to do but because of gene therapy Keira will! I can’t even put into words the relief we felt.

While we are still waiting on one major test – which will show whether her body is still creating antibodies to the ARSA enzyme it now creates (and never used to) – we are so pleased, to say the least, and so hopeful for her continued development.

She is saying two and three-word phrases now, copying everything we say, picking up on things so quickly, walking so much better, and at 16 months old is already showing interest in potty training (which our speech language pathologist was blown away by). It truly warms my heart to know we have years and years ahead of her where she will be doing more and more each day. Yet at the same time breaks my heart to know it was all taken away from Livvy. As always, bittersweet. But every day and every smile with our girls means the world.