Author: rileysroad

The Interview: School for Livvy

Schooling was not something we considered would be possible for Livvy given all of her limitations. However, our coordinator with the Arizona Early Intervention Program urged us to look into it and apply so that she is in the system whether we decide to move forward or not. I figured how hard could it be to apply her to school?

Well, it has been a process.

After a zoom call with someone from her school district, an in-person evaluation was planned for a month later. Of course this fell the week after her surgery in Utah (that caused the CSF leak she had) so she was not in the best of moods but I had canceled once before and just wanted to get it over with.

Assuming we would be meeting with that same person, we walked into the room and were surprised to see 6 additional people sitting in chairs bordering the room, each spaced 6 feet apart and wearing their face masks. Woah. This truly caught me off guard and left a bad taste in my mouth upon leaving. They grilled us with questions about her abilities (or lack there of), one question after another.

Can she sit upright on her own? No.

Can she crawl or roll? No.

Can she feed herself? No.

Can she point to what she wants? No.

The list goes on and on. It was essentially an ugly reminder for us of everything she has lost from this terrible disease – all just within the past year.

While they understandably needed to get to know her if she would be in a classroom, it was a rough hour. 

Weeks later we had a zoom call with everyone that was at the in-person meeting to determine eligibility together (insert eye roll here).

At this zoom meeting they proceeded to tell us that she has severe delays in each area. Please tell us something we don’t already know, I thought. But that she does in fact meet eligibility for schooling in their special needs program.

“Would you like to know what this looks like?”, they asked? Why not, Dave and I thought. They then proceeded to tell us that if she starts in the fall, it would be a three-hour day beginning at 9am where she would have both time in her stroller and being held by a teacher for more interactive “play” with other students. Snack time would include food brought from home. There would be one teacher and two assistants in the classroom who would all learn her medical needs to care for her properly and keep her comfortable.

Prior to all this, Livvy was in so much pain each day, and so irritable, that we thought there was no way she would be able to attend “school.” But since her last surgery which removed the internal port she has been so much more comfortable, and happy! While it pains me to think that thing caused her unnecessary pain this whole time, now that it’s out and she’s more stable I could potentially see this as being an option for her. Being around her sisters makes her so happy that I think being around other kids would make her just as happy.

So, I asked Livvy if she wanted to go to school with other kids and she smiled the biggest smile and laughed. So that takes care of that! We are now beginning the process to enroll her at the school down the street from our house and come August will see how she is doing and if she is still up for a change of scenery. 😊

Books to Read: Harnessing Grief

I have never met author Maria Kefalas in person. Yet she helped to save our daughter Keira’s life. Within 24 hours of receiving Keira’s diagnosis on June 19, 2020, Maria informed us we had a chance to save her life with gene therapy, connected me with the team of doctors in Italy and sent us a $2,000 check to kick off our fundraising to get there. I will forever be grateful to her and the work she does through CureMLD.com and the Calliope Joy Foundation (named in her daughter’s honor).

That’s why for the first time in well over a year, I took what little spare time I had to (slowly but surely) read a book. Her book, Harnessing Grief: A Mother’s Quest for Meaning and Miracles.

Of course, I could identify with much of what her story entails as one of her daughters also has MLD. But I had no idea how instrumental she and her family truly were in developing so much research, attention and care for those within the MLD community. I cried, I laughed and was even surprised at some of the likenesses between our lives.

It’s nearly impossible to make sense of your life once your child is diagnosed with a terminal illness for which there is no cure. What is the meaning of this? Of life? And why would such a darling, innocent soul be faced with such a death sentence?

“Sometimes I wondered if I was supposed to have Cal in my life to learn a different way of looking at the world, to see the perfection of her divine love, gifts that do not require words and which must be condensed into such a short life…The fact that she [Cal] is so joyful despite this terrible disease was in so small part because Pat and I were her parents, he believed, and we shouldn’t underestimate how much our love saved her.”

I agree completely with Maria and Pat’s assessment to make sense of all this, and feel the same way about our Livvy. She is smiling more in the past week alone than she ever has before. How could so much joy be radiating from a child with her fate? Because despite the pain and suffering she is truly happy; she has us. 

Another hard thing for parents to do when it comes to this disease is consider what terrible fate the future holds for their child and looking back at all they could accomplish just a year, a month, or even a week ago. This disease strips them of their abilities that quickly.

“In the week’s after Cal’s diagnosis I realized how dangerous these visits to the past can be. You can lose yourself in the grief over what’s been lost…The same thing can be said about contemplating the future; you can become immobilized with fear if you dwell too much on the ending of your child’s story. Living with Cal called us to live with no sense of the past and no thought to the future. Even as the disease stole more and more from her, we had to train ourselves to be grateful for what was possible each day.”

For us, it’s Livvy’s smile and her laugh. If we see those even just once a day it’s a win. Looking back at the memories thrown at us via Facebook feels like a punch in the gut. It’s devastatingly sad to think about the future that was stolen from her by this horrible disease.

So how do you take this fear of your child’s future, your future, and turn it into something positive? Cal (short for Calliope) taught Maria just that:

“Cal has taught me that when the worst possible thing happens, you have nothing left to fear…She has taught me that when you have tamed your fear, you harness its power to do extraordinary things. “

And the work Maria and her family have done to help others inflicted with their same pain, and grief, is nothing short of extraordinary.

You can buy Harnessing Grief on Amazon for $19.99. 100% of the proceeds go to the Calliope Joy Foundation in order to help other families like ours. ❤

Maria – we thank you from the bottom of our hearts. You are an angel to the MLD community and we are forever grateful.

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. ❤

One Less Thing to Worry About

Not long after we found out Keira also had MLD (on June 19, 2020 – a day forever burnt in my memory), we had her 6 month well check with the pediatrician. She pointed out that Keira had an extra fat roll on one of her legs which can be a sign of her hips being misaligned but that it could very well be nothing. She asked if we wanted to get x-rays done that week and my brain exploded.

I called my Mom after the check up telling her what happened. It was hard to breathe and my mind was racing. There was no way I could handle more bad news and we were going to wait a week or two to think it over.

In that time, we ended up speaking with the team in Italy and moving forward in fundraising to get her to Milan for treatment. The potential hip issue disappeared from my mind from that point forward. Until…we just had her in for another check up and the roll was still there.

Our pediatrician said we would still have a window to fix it if something was wrong so we went ahead with the x-rays. We got the results that same day but that small window of waiting had me so worried. There is no way our baby can have one more thing wrong with her after all she has been through.

Thankfully, the results were negative! Her hips are perfect and we have nothing to worry about! The relief I felt (about her extra fat roll no less 😆) was amazing. I think I actually laughed out loud reading the text. Some actual good news! Amazing. 🙌🏼❤🙏🏼

The Push & Pull (and Kick) of Co-Sleeping

Let me start this by saying we have never been co-sleepers with our children. Until…we (briefly) were.

What I’m about to share will probably sound crazy to most parents, but I actually miss having Keira (who is now 14 months old) in our bed.

It wasn’t until November 2020 that I first allowed this to happen. She had just spent half of her life in Italy undergoing countless doctors visits, surgeries, chemotherapy and gene therapy in order to hopefully live a full and normal life free of MLD, the disease that will most likely take the life of her middle sister in a matter of years (Olivia is the true hero of our family story).

She was finally out of isolation at the hospital and back in our apartment in Milan when she woke up in the middle of the night and every time I would lay her back down in her crib, she would wake up and start crying. So in our bed she went. Dave and I were both exhausted and I knew she was too. And wouldn’t you know she went right to sleep?! It worked. So why not do it again the next night?? Because that was easy and it will buy us more sleep…right?!

She would lay at a 90 degree angle to me, laying her head on my chest and sleep. Pay no attention to the fact that her feet would be in Dad’s face, kicking him periodically. I’m only paying attention to my side of the equation. The snuggles. I’m soaking in the memory of those precious snuggles.

Keira’s life has essentially been traumatizing for the majority of her time here on earth. We never know how much time any of us have here, but in our family we now know firsthand why it’s important to make the most of each moment. And whether it puts a kink in my neck or leaves me exhausted the next day, I still miss those nights with Keira because I know they are the last.

Traveling with Special Needs

We’ve all heard the stories of parents traveling with children on airplanes and the issues that can arise while doing so. The crying, the yelling, the bathroom breaks, the snacks, the kicking of chairs, you name it.

I would take all of that any day over what we have had to deal with when flying with Livvy each week.

It’s not just her special needs but also the COVID rules which can cause issues with the airline.

Because she is 2 years old, she is required to have her own seat. However, she cannot support her upper body so we have to hold her upright in that seat (which she doesn’t like). So, instead, we hold her on our laps during take off, in-flight and landing. Some airlines are understanding but others not so much.

Also because of her age, she is required to wear a mask on some flights. This she not only doesn’t like but also can’t understand. So we usually let her eat/drink on the plane to avoid this issue.

Another problem is that while she is 2 years old and 3 feet tall, she cannot use the bathroom like a normal child her age. She can’t walk and has to wear diapers. We have actually been told by a flight attendant to take her to the airplane’s baby changing table in the lavatory (which she does not at all fit on). So we have to lay her down on the seat between us and speed-change her diaper.

Traveling with her (or taking care of her in general) also requires two adults. One that can carry her on/off the plane and another to carry our back packs, and open/close the stroller.

It’s not an easy trip. Especially if she is screaming in pain or crying out of frustration.

I have my elevator statement to flight attendants down to a science due to the amount of times they have chastised us for her in-flight care, or needs.

“She has a terminal illness that affects her brain and she can no longer talk, walk or support her upper body.”

I genuinely feel for every parent of a special needs child that has to fly with them and explain over and over again the issues they/we face. It sucks having to repeat that out loud so many times in front of your child who can still hear and understand most of what you are saying.

The travel agency who books our weekly flights for her clinical trial does notify the airline of our situation but we still have issues.

And to top it off, seeing all the children her age walking, talking and running around the airport is like a punch to the gut. That should be her.

One Year Ago

Thanks to Facebook, I was reminded that this was a snapshot of our “new normal” as a family of 5 exactly one year ago today. Three healthy girls, one of which may need some PT for walking. And no pandemic. Easy.

Then life happened.

1 move to Italy. 5 surgeries. 4 days of chemotherapy. 1 gene therapy treatment. 40 days in isolation. 30+ weekly flights. And countless hours of learning everything about MLD from fellow parents since the disease is so rare the internet grossly lacks anything remotely helpful to anyone affected by it.

Days in our life are often still unreal and I wonder if this all really just happened/is happening. And what could possibly be next?? Do I want to know?

For now, here’s what we do know regarding the girls’ progress:

Keira:

What a sassy, funny, wiggly girl she has turned into. She copies every word she hears, tries to run even though she hasn’t even mastered walking and says hi to literally every person.

Unfortunately, we just found out her body is still fighting the ARSA enzyme it is now creating because it never had it before (like it should have). This is not normal but it does happen and we have been reassured that the antibodies do go away and her body will adjust. But because of this result we will most likely be going back to Italy in April for her 6 month post-gene therapy check up and any accompanying procedure that may help her body adjust. We will share more as we know more there.

Olivia:

In each recent week of Olivia’s clinical trial it has been harder to pull spinal fluid from her internal port, yet still possible to insert the drug. Because this is not normal and it got to the point of not getting any spinal fluid out, she had to go under anesthesia (something that is known to progress the disease) to get x-rays and find out if there is a problem. There was. The catheter had a leak and must now be replaced.

Unfortunately, that meant she probably hadn’t received her full dose in the weeks prior and will now have to undergo another surgery to replace it. We can only hope that the weeks and infusions to follow help stall the disease as it should.

She continues to have hard days and we can only hope for a miracle. In the meantime, we are working on getting her a machine that will help her communicate using only her eyes! We are so excited about this and the opportunity to know exactly what she wants or needs rather than playing the guessing game.

Eva:

Since returning to school in-person her reading and writing have greatly improved and she is so happy to be around her friends in real life! We do miss having that extra time with her but so happy to see her developing in more ways than one. She brings so much light (and loudness) to this house of ours and her sisters absolutely adore her. As do we!

While it’s insane to think how the last year has changed all of our lives, it’s even harder to imagine how it could change in the year to come. But, we are remaining positive and hopeful and are doing everything we can for our girls. Keep the positive thoughts, prayers and virtual hugs coming! We appreciate them so much! ❤

Worrying & What Ifs

When we left Italy I assumed I would no longer need to worry constantly about Keira because she will (hopefully) be “fixed”; that my focus would shift solely on Livvy and making her as comfortable as possible as this disease continues to take her life. That was wrong. I feel as if I am even more concerned about all the girls than ever before.

For Keira, while it’s an absolute miracle she received gene therapy treatment, in a few months she will be approaching the age when symptoms began to show in Olivia. So I find myself surveying her every move to ensure I don’t see anything “off”, even though she is developing normally thus far.

For Livvy, it is as I expected. We know what her future holds yet each day can be a different symptom causing her pain. While we manage that, we are working on getting her long term care, discussing if “schooling” is even an option for her and continuing her weekly treatments.

For Eva, we answer any questions she has about her sisters as they arise. Things like “Why can’t Olivia get the treatment Keira got?” and “Why didn’t I get MLD?” My heart is already breaking on her behalf in having to lose her sister much too soon. I can only hope and pray that Keira’s treatment does its job and she has a long life ahead of her to make memories with Eva. Otherwise, I am already thinking about the therapy and/or survivors guilt she may deal with as a result.

As any parent of a child with a rare disease, it is hard to keep the “what ifs” at bay and not consider what the future holds but we do our best to stay strong for the girls and keep those faces smiling as much as possible.

Utah Bound

During the last part of our stay in Milan, we found out that the Utah site of Livvy’s clinical trial may be opening soon. Thankfully, it was in time for our return to the States and this week we made our first of many weekly trips to Salt Lake City, Utah for her infusion.

The team was very nice and understanding and the treatment went really well (no tears from Livvy!).

But one of the best parts was the travel was much easier on her (and the rest of the family). At one point during our weekly trips from Italy to Amsterdam Eva said to me “I don’t want you to go! It doesn’t feel like home when you, Dad and Livvy are away.” 😥

Because it is such a short flight (1 hour) from Phoenix we are working on making it a day trip in future weeks so that we have minimal time away from Eva and Keira. And both the PHX and SLC airports are much closer than they were in Milan so the drive time is even quicker (another plus for Livvy who does not like being in her carseat).

While the clinical trial is not a cure for MLD and is only meant to help stall the progression of the disease, we are very hopeful and grateful for the extra time it is allowing us to have with our Livvy.

Snuggles with Livvy as she naps before her treatment.

Home Sweet Home

On Friday, January 8th, we arrived home after 5 months in Italy. While we were essentially quarantining most of that time due to the pandemic in various stages and out of safety for the girls, each day was non-stop and it went by in a blur. As a client and friend of mine, Chris Rose, told me about being a work-from-home parent, “the days are long but the weeks are short.” 5 months seemed like an eternity at the beginning and now seems so minor.

Once we hit the halfway mark, I was actually dreading coming home. And I think I was the only one to feel that way. I felt like coming home meant while Keira would be saved it would be time to face Olivia’s very limited future and the decline to get there. Granted, this would happen no matter where we were in the world but, to me, our time in Italy felt like we were in a bubble, away from reality. And coming home meant popping that bubble.

The week before our flight my stomach was in knots. But I knew it would be good for every one of us to be home. Livvy was actually clearly excited, which can be a rare occurence. While she can’t talk to us she still understands everything so we told her we would be going home the following day and that she got a new big girl bed in her room. Her eyes lit up, she got a big smile and gave her little laugh. That night, she couldn’t even get to sleep like normal because she was so excited. And on the plane rides home she didn’t sleep a wink; eyes wide open and ready to be back.

Now, having been home a few days and readjusting after jet lag, I am beyond glad we are here. Eva has her room and her “poochie poos” (our dogs, Watson and Sherlock), Livvy has her new bed and her normal surroundings with better temperatures to be outside (she loves being outdoors), and Keira has her actual home, her own room and so many toys to re-explore since she may not remember much after spending half of her life in Italy.

What an unreal journey to say the least. But we are beyond grateful for this entire opportunity and the many people who have touched our lives to make it possible. We will definitely be leaving behind a piece of our hearts in Milan but are looking forward to figuring out whatever our new “normal” may be here at home.