metachromatic leukodystrophy

Week 1 in Italy

Week 1 is done! We all (eventually) got over jet lag, Keira has been a trooper through all of her pre-screening tests, Eva has met many animals in the lake, and Livvy went on a swing for the first time in a long time and loved it!

Keira’s Treatment:

The entire 1st week at the hospital was all about pre-screening tests to ensure everything came back normal and that there were no signs or symptoms of MLD (Olivia didn’t start showing symptoms until around 18 months old).

It started with a neurology and physical therapy evaluation, followed by audio/visual tests, an EEG, an EKG, an echocardiogram, an MRI, bone marrow aspirate and blood work. As well as meetings with the doctors to go over each test and the upcoming gene therapy treatment.

She handled it like a champ! She LOVES all the amazing nurses. And so far all tests are coming back great! 🤗❤🙏

Eva & Livvy’s Week:

What a change this has been for all of us, but as the oldest of our kiddos 5-year-old Eva has had the biggest transition. She doesn’t really get why we are living in a hotel currently and not in a home but is enjoying walks around the lake, has named the swans (Flute and Toot), and loves feeding the turtles and Koi fish. She also still joins her Kindergarten classmates at home via Zoom when they log on for their morning meeting (which is usually around dinner time here).

Livvy has regressed quite a bit in the past month and can no longer walk with assistance or crawl. Her speech is also limited to words like “Hi” and “ya.” So for her it’s all about sitting and playing with her sisters, us holding her and having dance parties in the room and laughing at her big sis while she feeds the animals in the lake. Despite her limitations the smiles keep coming and that’s what keeps us going!

Another major blessing is having my Mom and Dad here with us. It would be impossible without them! And it also helps give the girls another sense of home and normalcy that we are all here together. ❤

As you can tell I just love birds… 😳

We Made It!

It’s officially happening! Today, we landed in Milan, Italy to begin Keira’s gene therapy treatment!

Every step of this journey has been truly unreal. But to be here now, it has sunk in. We made it!

And we made it thanks to all of you who have supported, prayed, donated and sent us all the good vibes.

I know the next 5 months will not be easy for Keira (or all of us) but it will all be worth it when we can see her run, jump, spin in her dresses and talk in sentences. I hope she talks our ears off for the rest of our lives!

Every Mom knows the relentless “Mom! Mom! Ma! Mommy! MOM!” when kiddos are trying to get your attention and I am so excited for that!

Eva (our oldest who is 5 years old) of course does that daily (and yes, it can sometimes drive me crazy) but MLD has given us an entirely new perspective and appreciation for literally everything in life. Especially in relation to our girls. They are our world and every moment is precious.

So, what’s next? Hopefully we can sleep a little bit while we quarantine for 2 weeks! And on Monday just Dave, Keira and I go to the hospital to begin the process by discussing the treatment plan with doctors and doing a bunch of testing (bloodwork, EKG, xray, MRI, you name it). It’ll be a busy week. And we can’t wait!

A Little Bit About Livvy

Here we sit in Iowa City for our last weekly trip before heading to Italy. We have been coming here each week since the beginning of June as part of a clinical trial for our middle daughter Olivia (Livvy).

It is currently the only treatment option available in the world for symptomatic MLD children and requires weekly injections for two years. While it is not a cure, the weekly infusions offer the chance to stall the disease.

Results generally aren’t expected for 3-4 months (we are in week 9) but other parents enrolled in the study are seeing positive changes in their children, and some aren’t seeing a progression of the disease at all. We are remaining so hopeful.

Unfortunately Livvy has regressed quite quickly since getting sick in January (we didn’t get her diagnosis until the end of March) and we later found out that if MLD children get even a cold it can progress the disease rapidly. Now, as I’m sure you can imagine, living in a world of Coronavirus and having to take her on a plane weekly to get treatment is very much a double-edged sword. But the benefits outweigh the risk and we are extremely careful when we travel with her.

With our move to Italy imminent for Keira’s gene therapy treatment, we also had to think about what that meant for Olivia. Thankfully, the clinical trial has European sites. Unfortunately, there is not one in Italy. But a short plane ride away to Amsterdam is where we will get to take her (after we quarantine for 2 weeks) to ensure she continues receiving this treatment that will hopefully allow us more time to make more precious memories with her.

We are beyond grateful to have my parents coming along with us to Italy so that they can help us get Livvy’s treatments, and take care of our oldest daughter Eva, while Dave and/or I may be in the hospital with Keira for her treatment. It’s a juggling act to say the least.

We never truly knew the meaning of “it takes a village” until we had a child with special needs. From family, friends and our MLD groups to doctors, physical therapists and counselors. We are SO thankful for our village. ❤🙏

Our beautiful little Livvy! ❤

Perspective Amidst the Pandemic: Our Story

It is July 6th, 2020 and my entire family is fighting like mad to save the life of our 5 month old baby girl, Keira. Who, unlike her sister Olivia (age 2), has a chance to receive a treatment that could potentially give her a normal life and beat the life-wrenching disease known as Metachromatic Leukodystrophy (MLD).

It was on March 30, 2020 when we first heard those two fateful words, Metachromatic Leukodystrophy. Stay at home orders were in full effect as the Coronavirus pandemic spread across the globe, and we had spent the last month fighting for doctors appointments to figure out why our middle daughter Olivia had begun to have trouble walking, was tilting her head and why the irises of her eye would vibrate involuntarily.

We managed to get a second opinion that day with Dr. Vinodh Narayanan to get to the bottom of Olivia’s diagnosis. The first neurologist we saw said there was nothing wrong with her and to come back in a year. Had we waited, she may have lost her abilities to walk and talk much sooner than expected. 

Due to COVID-19 restrictions only one parent could go with Olivia to see Dr. Narayanan so my husband Dave attended in person and I attended via video conference. After a thorough examination and reviewing her MRI, Dr. Narayanan knew MLD was the likely cause of her symptoms thus far.

The words MLD did not register in my mind – it had to be a mistake…my heart felt like someone took a crystal vase and smashed it on the floor with all their might. Our biggest nightmare as parents had come true, a fatal disease with no cure.

How could this be possible when we did genetic testing before having children that showed MLD as being negative for both of us? Our world was shattered and our hearts were broken. Life is precious and, like every parent, we wanted to give the world to our children. Unfortunately, we won’t be able to do that for Olivia.

We soon learned that genetic testing does not truly cover everything. The test came back as negative for both of us because they only test for the 5 most common gene mutations that cause MLD. The ones Dave and I have are more rare. The chances we would have a child with MLD? One in a million.

This news quickly turned the Coronavirus into an afterthought. 

Just when we thought it could not get any worse, the genetic test results for our other two daughters came back. We were in Iowa at the time for Olivia’s weekly treatments for a clinical trial that will hopefully help stall the progression of her disease (she has already she has lost the ability to walk on her own, lacks pronunciation, lost the majority of her vocabulary and is in some form of pain on a daily basis) when Dr. Narayanan informed me on the phone that while Eva, our oldest daughter who is 5 years old, was a carrier of one of the gene mutations and would live a normal life, the news was not so good for Keira. Our dear 5 month old baby girl had the same two gene mutations as Olivia and would also suffer from this horrible disease.

My legs and arms began to shake and my heart raced. Tears began to form down our faces. If the chances of having one child with MLD is one in a million what are the chances of having two?

We immediately reached out to our network of support and found that there was a silver lining to the dark clouds overhead. Because Keira is pre-symptomatic she is eligible for a cutting edge gene therapy treatment only available in Milan, Italy. She would be one of only 30 children in the world to receive this treatment. While it is not a cure, it could give her a chance at a normal life.

To get her this treatment we needed to act fast. The amazing team at CureMLD.com connected us with the team of doctors in Italy to share information on what this would entail.

Not only would it require us to move to Italy for 5 months while Keira completes the treatment, but we would also have to transfer Olivia’s clinical trial treatments to a European site. And the cost to us, for treatment, lodging and travel? Hundreds of thousands of dollars.

My sister-in-law immediately set up a GoFundMe account and our entire family rallied around us to share our story with the community. While I’m not one to normally share sad news, or ask for help, we needed to do everything we could to save Keira’s life from this terrible disease. And we only have a few weeks to raise enough money to do so.

I’ve always worked hard for everything I’ve accomplished in life and do so every day on behalf of my clients. In 2013 I started my own public relations agency and it is my job to share my clients’ stories with the world. Now, I somehow had to do that for myself amidst this very real nightmare. Thankfully, the PR community in Phoenix is a very close group and my industry colleagues immediately began to help get the word out about what we were going through.

I try to count my blessings, amidst my daily tears. Time is precious, now more than ever, and I savor each moment with our girls. Because of COVID-19 we are all home. And unlike many others I see complaining about being quarantined, this has provided precious time for our family to be together at home every day while Olivia’s symptoms rapidly progressed. At minimum we have 2-4 years left with her.

I am etching these moments into my mind. I want them to live on forever…us laughing in the pool, having pretend tea parties and watching movies with our girls are priceless for every one of us. To see them each smiling and laughing is our key to happiness amidst the very real tragedy we face on a daily basis. 

The gene therapy treatment Keira is eligible for is not yet considered a cure – it has only been around for a decade – but it is at least a chance at a normal life. A chance to run, jump and one day go to school with her friends. Things Olivia will never get to do. These thoughts – this hope – are what keep us going and keep the love alive as we navigate the new world amidst Coronavirus.