Keira’s Leukapheresis

One day when we were back home in Arizona, we were being interviewed by a reporter who asked to describe the gene therapy treatment we were hoping to get for Keira. Dave said it best when he began to answer with “It’s something out of a science fiction novel…”

The process by which they do all of this is remarkable. But simply put, they extract stem cells, put them into vectors, take out the bad genes, replace them with good ones and then reinsert the stem cells into the body via a virus (without the bad parts of said virus) so that it quickly spreads throughout the body. 😳

Step 1 is leukapheresis, the removal of stem cells. In order to do that, Keira had to have a central line surgically placed into her femoral artery. That is where they would hook up the machine that would process her blood and remove stem cells.

It was a quick surgery and as with all IVs she gets, once they are placed she doesn’t even care they are there and just wants to continue playing like normal (fun for Mom who gets to watch her every move and make sure nothing gets tugged on or twisted).

Straight from surgery she went to the leukapheresis room to get hooked up to the machine. Each session would require her laying (optimal position for extraction) as still as possible for 4 hours. No easy feat for an almost 8 month old who is on the move.

The cords you see coming from her central line go to the machine behind her. That one machine does it all! And that is Paola who was absolutely wonderful! Keira would light up when she saw her and she was so kind to bring me espresso each day.

The first session was a little easier as Keira was coming out of sedation from the surgery and was tired. The second day I had to pull out some distractions. Thankfully, we did not need to do a third session as they got the maximum amount of stem cells needed for the procedure.

They generally hope to get around 30 million stem cells per kilo (which I hadn’t known prior). So when they told me on the first day they got 10 million stem cells per kilo I thought ‘Wow, great! We’re done in one session.’ Not so much. Thankfully they were able to double her dose of the medication used to stimulate the stem cells’ movement throughout the body so on the second day they were able to extract 32 million stem cells per kilo! Of the 42 million total, 5 million will be used as back up and the rest will be used in the gene therapy, giving her the maximum dose for the procedure.

A closer look at the leukapheresis machine. The bag on the upper right is the collection of her stem cells.

It was really crazy to see all of this happening in one machine and Keira laying there happy as a clam like nothing was going on.

Around us were three other beds with people also receiving stem cell removal. They were all older men and women who got a kick out of Keira smiling at them, and blabbing on and on. “Bella!” or “Bellisima” they would all say. 🥰 Hopefully she brightened their days a little as they brightened ours!

Next step for Keira: surgery on Monday to have a permanent central line placed for the upcoming gene therapy.

The Beginning of Keira’s Treatment

The day finally arrived! On Friday, September 4th we took the first step in Keira’s gene therapy treatment!

After being admitted to the pediatric floor of the hospital they put in an IV (which needed to be taken out and redone the day after), took blood samples (which they do daily) and every 12 hours inject a medication that will prompt her stem cells to be released from the bone marrow and into the bloodstream.

On Monday morning, she will have surgery to place a central venous catheter followed by the leukapheresis procedure for collection of stem cells.

So far, she’s been handling the hospital stay great and gets over any pokes fairly quickly. The only thing that really holds her back is the IV on her foot and the bandage protecting it.

That aside, she’s having no trouble keeping me up at night.

One thing I came prepared for (for her anyway) was bringing food from home (bananas, avocados and berries). I’d heard stories from other gene therapy families about the difficulty of them understanding that a baby this age eats normal foods (in addition to formula) and not pureed or processed foods. I’ve also heard the food at the hospital is just plain bad. They were right.

I’ve told them multiple times about her diet and they still bring the pureed, processed and soupy foods. For me, here’s an example…

I don’t know what this was but it smelled , and tasted, like black licorice. 😝

Food aside, the rest of our stay so far has gone well and the staff is amazing.

To say we are excited about this treatment and the life it will allow for Keira (and all of us) is an understatement.

What’s next? After this, we go home – to our new apartment instead of the hotel we were staying at – for a few weeks before Keira is admitted to the hospital for 40-60 days for the remainder of the treatment. That will include chemotherapy, the gene therapy itself (administration of corrected cells), followed by ongoing bloodwork, scans and other tests to ensure her body is safely accepting treatments and all levels are returning to normal.

Thank you everyone for the outpouring of love and support throughout this process. It means the world and we will continue to keep you updated on our journey! ❤

Livvy’s 1st Treatment in Amsterdam

After our two-week quarantine, Livvy was finally able to restart the treatments for her clinical trial. Because there is not a site available for this study in Italy, it requires weekly trips to Amsterdam.

I needed to stay in Italy with Keira for her doctor’s visits, so Dave and my Mom took Livvy for her first treatment.

She did wonderful on the flight, had a great first day and took an immediate liking to the doctors there! They even made a welcome sign for her. 😊❤

Because the universe has a funny way of working, Dave soon found out the hotel’s guest services representative graduated from NAU in Flagstaff, AZ and was actually from the same town Dave was born in (Fullerton, California)! It’s truly a small world we live in!

Livvy happened to be wearing her Beatles “All You Need is Love” shirt that day (she loves all Beatles music) and the staff member informed them that this hotel is actually where John Lennon and Yoko Ono spent their honeymoon. He arranged a private tour for them that evening (and I am so bummed I couldn’t have been there for this)! See below for pictures:

The following day was her treatment. We were nervous since it’s a new place for her but they let Dave hold her instead of laying on the hospital bed and she did really well!

In a few hours they will be en route back to Milan and will all have to take COVID tests in the morning to ensure Keira’s (and everyone’s) safety before she is admitted to the hospital on Friday.

Dave did note that because the COVID-19 levels are so low in Amsterdam that the schools have all reopened and masks are not required. 😳 Amazing to hear of that kind of progress when things are still so scary in other parts of the world.

Week 2 in Italy

Before it’s an after thought amidst the upcoming schedule for Keira’s treatment and Olivia going to Amsterdam weekly for her treatment, I need to look back on the past week.

As far as time at the hospital for Keira goes, it was truly minimal in comparison to the first week. She had an abdomen ultrasound and x-ray (which came back normal, as have the rest of her tests), we took her with us for our training in the isolation room (where we will be for at least 40 days once they administer the gene therapy) and that was about it.

An easy day at the hospital makes for a happy Mom and happy Keira!

For Olivia, she had two appointments with the physiotherapist here (equivalent to physical therapist in the US) and then our third visit ended up being an additional visit with the pediatrician’s team regarding her thumb (her go-to for self-soothing) which needed some antibiotic cream and some concern regarding her ongoing pain, for which we’re scheduling an abdominal ultrasound next week.

Many MLD kiddos have issues with their gallbladder that then requires its removal (and we hear afterwards it makes a big difference) so we will see what the results say. We are hoping another surgery is not so near in her future since everytime she is administered anesthesia her disease progresses. But if it lessens her daily pain, it will be a necessity.

Thankfully, we still get regular smiles and keep her as comfortable as we can. Being like Eva always makes her happy. 👇🏻

Olivia’s day officially made by getting to “ride” on Eva’s bike.

For big sis Eva, she is always rolling with the punches and learning to be a better big sister each day. Her Kindergarten class meets at 8:15am, which is 5:15pm our time. Given that this is nearing the time we get dinner going and the time all of our family, friends, clients and doctors in the US are available to chat, it has been hard to keep her as involved with her hometown school as we would have liked.

Now that we have a timeline for upcoming months in regards to both Olivia and Keira’s treatments we are hoping to figure out a routine for her. Even if schools reopen here in September, doctors are recommending she stay virtual for the safety of Keira and Olivia. If anything, I am determined she will learn Italian! 😊🇮🇹 In the meantime, she is enjoying her bike rides around the lake (thank you, Laura and Silvio) and making wishes in the fountain.

While it is often hard to see the silver linings, we always have hope, love, family and faith to move us forward. We know this will all be well worth it to provide our dear Keira a chance at a normal life.

P.s. we have also really enjoyed our recent rainy days (which we rarely see in Arizona).

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. ❤

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. ❤🙏

Thank You is an Understatement

On June 19, 2020 our world was shaken a second time when we found out our youngest daughter Keira also had the same gene mutations that caused MLD. Thanks to being involved in the MLD Foundation‘s Family Support Group, we met Maria Kefalas of CureMLD.com who immediately informed us there was another option for Keira – in the form of gene therapy in Milan, Italy.

The potential cost? Hundreds of thousands. On top of moving our family to Italy for 5 months for this potentially life saving treatment. Another hurdle? Having our middle daughter Olivia’s weekly treatments in her clinical trial moved to a European site. The road head seemed daunting to say the least.

My sister-in-law Nina immediately created a GoFundMe page and another in-law, Aunt Malinda, introduced us to Jennifer Armer of the Armer Foundation, who could help us raise funds via tax deductible donations. Then off we went. Spreading the word far and wide of our family’s story.

Suddenly, not one or ten or one hundred but THOUSANDS of people – family, friends and strangers alike – came together amidst one of the hardest times in today’s world, to support our family. My colleagues also reached out to their networks, having media outlets from the Independent Newspapers, Mom.com and FOX 10 to 3TV and People Magazine sharing our family’s tragic story.

“Thank You” does not do justice to the appreciation we have for each and every one of you.

“Thank You” is an understatement.

I wish I could list every single person who helped us here. But that would make this post quite lengthy and many wished to remain anonymous. So to sum it:

To our family: Many of you we haven’t seen in so long because of the pandemic. A few of you have been right by our side, day-in and day-out, as we navigate the world of MLD with Olivia and Keira. No matter the circumstances, we would not be able to care for our girls or make this journey to Italy without your support. You have provided life to our children, love for our children, happiness for our children and now…a second chance for our Keira. A second chance at life, love and a normal future. We love you so much and can’t wait for the many memories to come with our girls!

To our Friends: You have rallied like we never expected. From bass fishing tournaments in Yuma and t-shirt fundraisers online to proceeds of wine sales, a “shoulder” to lean on or someone to share feelings with…we are speechless at the kindness, generosity and loyalty that comes from being part of your circle. Thank you!!

To Those We Have Never Met: You have left us in awe and restored our faith in humankind. KIND being the key word. The smallest donations bring us to tears as much as the large donations. We are all struggling during this pandemic and the fact that many still choose to help and give back means the world. It may very well save the life of our daughter and we are forever grateful.

Donations aside, the LOVE, support, positivity, prayers and virtual hugs sent our way mean the world. Thank you is truly an understatement and we want you to know how grateful we are for each and every one of you.

With love and endless thanks,

The Riley Family

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.

The Riley's Road to Italy

Author: rileysroad