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. 🙌🏼❤🙏🏼
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.
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! ❤
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.
Today Keira began her 3-day 3-month post gene therapy check up. She had an EEG, bloodwork and saw the orthopedic surgeon. Tomorrow, December 29th, she gets an MRI, lumbar puncture and bone marrow aspirate. Then on December 31st, she has a neurological evaluation and physiotherapy evaluation.
We get some results as they arrive this week (we already know her hemoglobin levels are rising, which is great) but the most notable results won’t come until the beginning of February. That is when we will be able to get our first big picture of how her body is accepting the renewed genes.
In the meantime, the team at San Raffaele has asked us to send videos of her development (walking, talking, etc) so they can monitor her progress from afar prior to our return in April for her 6-month check up.
She already took her first step on Christmas Day and is beginning to talk more (saying hi, bye bye, waving ciao, etc), so we are not concerned. However, Olivia was the same way at this stage in life as well. It wasn’t until around 18 months that she began to have issues. So we will of course be nervous once that day rolls around but the results in February could put all those worries aside.
We have already said many goodbyes to the team at San Raffaele (who are true angels and miracle workers – I will share more about them soon) because days after Keira’s check up we leave for Amsterdam for Olivia’s final treatment there before heading home to Arizona on January 8th.
What a whirlwind this experience has been. This year has been. We will miss our new friends, and the many doctors and nurses, who have been by our side during our time here. But we are excited to be home and beyond hopeful for Keira’s future.
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. ❤❤❤❤❤❤❤
Yesterday, as my Mom and I were getting Livvy ready to head to the hospital and get fitted for her new customized stroller/chair, Dave video-called right as the doctors came in Keira’s room and said her neutrophils were up to 2,000 (from 200) and they could head home!
41 days in isolation, 4 days of chemotherapy, gene therapy treatment, daily blood draws, and a constant rotation of medicines had finally come to an end. We were beyond ecstatic!
While it was a bittersweet day with Livvy getting her new stroller (her body can no longer bend properly to be comfortable in a normal stroller), having a healthy Keira come home was truly a wonderful thing; a miracle really.
Eva ran up to us at full speed as we walked in the door and yelled “Hi Baby Girl!!!” to Keira.
From personal experience weeks earlier, I knew the joy and sense of freedom that comes with leaving the box and being at home. But now being on the opposite end and having Dave and Keira come home was…just an overwhelming sense of happiness and like everything was as right in the world as it could possibly be for us at that moment.
After bringing them home, my Mom and I walked to the store to get a few things for dinner. I had chills the entire walk. Not because it was cold but because of that feeling; our family was finally together again after 41 days apart.
Our lives are an emotional rollercoaster to say the least but we could not be happier to have everyone under the same roof as we head into the holidays (and a potential lockdown in Milan).
The girls were all so happy to be with each other again and so were we! ❤❤❤❤❤
It is the 40th day Keira has been in isolation and in just a few short days she and Dave may be coming back home! 🤗
I am SO happy to share that she has only had one blood transfusion in the past week, her platelets seem to have engrafted as those levels are spiking, and her neutrophils are on their way up! The results from her first bone marrow aspirate following her gene therapy also appear to be in line with the results of other successful patients so we are beyond happy with that!
The doctors said we could expect to be discharged by the end of this week or beginning of next. This is how excited Dave and Keira are (and us too)! ❤
Dave has officially settled in at the hospital and Keira is as happy as can be! She hasn’t needed a transfusion (for hemoglobin or platelets) in five days, which is amazing, and she is well on her way to a quick recovery – albeit with 50% less hair. We are so relieved she is doing well and back to eating and drinking on her own. Her weight has also stayed steady, at around 10.6 kg, this whole time, which was something I was concerned about when we started this process.
Today, the doctors said if her neutrophils rise as they should she may even get to come home next week! Yay!
Meanwhile, on the home front, we have had a busy few days with Eva and Livvy and I have loved it!
We ate lunch outside at one of our favorite restaurants, made origami hearts and Halloween decorations with Eva, played dress up with Livvy, went for a walk to see all the fall leaves and horses that live next door, completed a puzzle with Eva, walked down the street to wave at Dad and Keira in the hospital room, played at the playground, and danced in the rain!
I may have mentioned that when we first planned on Keira’s stay in the isolation room for 40+ days that Dave and I planned to switch out each week. Well, thanks to COVID-19, this was one of many things that had to change.
Thus, my staying for the first 4 weeks until Keira was past the mucositis phase, when her immune system would be at its weakest. Now that she is past that, recovering well and Dave passed his COVID test, we were able to switch.
Being outside, walking around without a time limit, felt so weird and so wonderful at the same time. That smile under mask didn’t fade the whole walk home, thinking about seeing my girls.
While I am having trouble even wrapping my brain around not seeing Keira in person for the next few weeks, I am beyond excited to be with Eva and Livvy, who I have missed SO much! Giving them hugs in person literally brought tears to my eyes today.
And I know Dave was so happy to see Keira. And vice versa, once she realized the masked man with the longer locks was her Dad. 😆
Never when we first heard the words Metachromatic Leukodystrophy would we have imagined our lives would lead us here. But we are so grateful it has. This journey has not been easy and we know the road ahead won’t be either. But these gorgeous faces make it all ok, and we will always do everything we can to keep them smiling.
Here’s to hoping these next few weeks fly by! We miss Dave and Keira already!
The Riley's Road to Italy 