Clinical Trials & Tribulations

On June 5, 2020 Olivia had surgery to implant the intrathecal port that would be used for the weekly infusions in her clinical trial. The trial itself was aimed at stalling the progression of her disease, Metachromatic Leukodystrophy (MLD). It required weekly infusions for 2 years, with an optional 3rd year.

After her initial surgery in Iowa

We enrolled for a few reasons. Mainly because it was the only option in the world for symptomatic MLD kiddos but also because after doing our research other parents in the study seemed very pleased.

The only site in the US that was taking patients amidst the pandemic was in Iowa. So off we went every week from Arizona to Iowa. Not an easy trek for Livvy but hopefully one that would be worth it.

Once Keira was diagnosed on June 19th though, we were soon on a different path and that lead to Italy. So part of the coordination there was getting Olivia moved to a European site for her weekly infusions. And that site was Amsterdam, which will now forever have a special place in my heart (but I will share more on that in another post one day). It was a much quicker trip than AZ to IA so we were pleased with that.

Talking a walk through Amsterdam with Livvy

After moving back to the States in January 2021, the Utah site for the clinical trial had opened. It was much closer to home so we were excited about that change.

Unfortunately, Olivia’s internal port had stopped working at that point and x-rays showed the catheter had a leak so she would need surgery to replace it.

The x-ray of her catheter leaking internally

Surgery is never an option you want for your MLD child. It requires anesthesia, which we now know can progress the disease. The MLD Foundation has done plenty of research and recommends using Propofol via IV for the best possible route.

So on March 5, 2021 she had a 2-hour surgery in Utah which replaced the port and over the next two weeks it worked better than it ever had before (the initial port had issues pulling CSF in a timely manner). We were relieved that maybe now she would better benefit from the study.

But on Sunday, March 21st we noticed the incision on her back was swollen. The doctors said to keep an eye on it and let them know if it gets bigger because it looked like a CSF leak. Within the next two days it had doubled in size. So on Wednesday, March 24th we were off to the ER at Phoenix Children’s Hospital.

We were told she would need surgery again to fix this. Now we were at a crossroads.

At the last surgery, Dave and I had discussed pulling her from the study if another surgery was ever needed. But how can we not get her the only potential treatment available to her? We had to weigh the pros and cons. Was the travel too much on her? Was it too much on her sisters who had to stay home with grandparents? She has only regressed since starting the study and we have seen no improvement but how do we know if maybe it was helping? If we keep her in the study, we can’t possibly ask a grandparent to take her to Utah in this fragile state while we are in Italy for Keira’s next check up. This and more went into our decision-making process.

At our meeting with the neurosurgeon we had our answer. But before we could share it, they told us the port needed to be removed completely in order to fix the leak.

I immediately felt relief. This confirmed our decision. The port was coming out and our intensive travel schedule was coming to an end. This would give us all more time to together with Livvy for however long we have left with her.

Since the surgery, which went very well, the doctors told us they found not one but two leaks (one from this port and another presumably from her first port). They also shared that it wasn’t just a little leak but an abnormally shaped hole. They stitched it up well, topped it with many closing methods and do not expect it to reopen.

As she lay flat, as per doctors orders, on the bed next to me, I am relieved to know this chapter is closing.

My Aunt said it best: it was a tough day but another one behind us. We are looking forward to more smiles with our Livvy in the days ahead.

Recovering from surgery with some sweet sleep

Side note: I have spoken to many parents about the trial. Some who had kids enrolled, some whose kids got denied entry and some whose kids couldn’t get in because they were no longer accepting patients. To the ones who couldn’t get in I would like to remind you of our situation. There is no guarantee it will work and our family is unfortunately proof of that. Know that you are doing the very best for your child given the resources available to you. Let’s all hope a better option is on the horizon. ❤

Heading Home Soon

It’s taken me a while to write this post – some VERY exciting news – not just because of lack of time while juggling the girls, work, the holidays, etc. But also because, for me, it’s bittersweet.

On January 8th we are heading home to Arizona!

It’s earlier than we expected based upon Keira’s rebirthday/gene therapy date (Oct 2nd, 2020) and how quickly her body has recovered from the chemotherapy. We could not be happier with how well she has done throughout this whole process!

At the end of December she will have her final hospital stay, which will be her 3-month post-gene therapy check up. During this stay, they will do a lumbar puncture, bone marrow aspirate, MRI and remove her central line. Results won’t come in for 4-6 weeks following but we remain so hopeful and positive given how she is continuing to develop. Fingers crossed!!!

The bittersweet part? For me, it’s a few things. Italy now has a special place in all of our hearts for the potentially life-saving treatment Keira just received, the team in Amsterdam that has been treating Olivia is absolutely amazing (she loves them and we will all miss them), but I also dread going back home and facing the reality of Livvy’s very limited future. I know that’s inevitable and we would face it no matter where in the world we are but going back home makes it feel one step closer. It will be time to enroll her in long term care, figure out how we may need to handicap the house for her future needs, schedule in-home PT, OT, etc. It’s a lot.

But as Dave continues to remind me, there are so many positives that will also come along with being home…back in our own house and our own beds, not having to worry about a time difference to talk to family or schedule work calls, Eva getting back to school and life as “normal” despite COVID, etc. It WILL be a good thing for all of us.

And from this point forward Italy and the Netherlands will both hold a special place in our hearts. ❤❤❤❤❤❤❤

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.