Results from Keira’s 6-Month Post GT Check Up

On May 11th, Dave, his Mom, Eva and Keira returned from a two week trip to Milan, Italy for Keira’s six month check up after the gene therapy she received in October 2020. I stayed home with Livvy since the travel, time changes, etc. would have been too hard on her. And let me tell you those two weeks felt like two months.

While Livvy did seem to regress a bit while they were away, I’m very happy to report that all of Keira’s tests went so well! It’s a bittersweet balance with these two. As one regresses the other progresses. It is truly a miracle that Livvy was able to be Keira’s guardian angel and we got her diagnosis in time to get Keira treated.

Tuckered out after a day of testing on our recent trip to Milan for her 6-month check up.

And what a treatment it was! We will forever be grateful to the team at Ospedale San Raffaele in Milan for their hard work, dedication, compassion and kindness.

Keira went through quite a few tests in the two weeks they were there (see my previous post for a list) and everything is, so far, coming back within normal range!

The doctors said that based on her current development they would put her in the same realm as the children who have had the best results thus far! These children are now 5, 6, 8, and 10 (at the oldest) and are living completely normal lives – walking, talking, playing sports, going to school! Things Livvy will never get a chance to do but because of gene therapy Keira will! I can’t even put into words the relief we felt.

While we are still waiting on one major test – which will show whether her body is still creating antibodies to the ARSA enzyme it now creates (and never used to) – we are so pleased, to say the least, and so hopeful for her continued development.

She is saying two and three-word phrases now, copying everything we say, picking up on things so quickly, walking so much better, and at 16 months old is already showing interest in potty training (which our speech language pathologist was blown away by). It truly warms my heart to know we have years and years ahead of her where she will be doing more and more each day. Yet at the same time breaks my heart to know it was all taken away from Livvy. As always, bittersweet. But every day and every smile with our girls means the world.

Our 1st Return Trip to Italy

This morning, Dave and his Mom, Tammy, left for Italy with Eva and Keira for her 6-month post gene therapy check up. I’ve been dreading splitting up the family for this trip but it was the only way we could make it work. The trip would have been too hard on Livvy. So off they went. And I cried like a baby.

It will be nice for Livvy and I to have some quality time together but I will definitely miss my other girls (and Dave too). 😊 Thankfully, my Aunt flew out to help me take care of Livvy since it’s nearly impossible for just one person to manage her care.

As for Keira, I’m actually not really worried about her check up. She has been developing normally and is even advanced for her age in some areas.

Her treatment itself was done on our initial trip but they recommend check ups every 6 months that will eventually turn into every year. What they are mainly checking for is a complete lack of ARSA antibodies (and any symptoms of the disease). At her 3-month check up before we left Italy in January she still had some antibodies (her body’s way of fighting the ARSA enzyme that her body never used to create before gene therapy). So they need to ensure those are decreasing or completely gone.

Here is what they have on schedule for the next two weeks:

  • Neurological evaluation
  • PT evaluation
  • Psychological evaluation
  • Blood chemistry samples
  • Abdominal ultrasound
  • Electroencephalogram
  • Echocardiogram
  • Visual and auditory checks
  • MRI
  • Bone marrow aspirate
  • Lumbar puncture
  • Electromyography
  • Endocrinologal visit

It’s a lot. But really there’s only one day with sedation and the rest is spread out throughout the two weeks so they’ll still have time to relax and see a couple friends between those rainy days in Milan.

We’ll continue to keep everyone updated! Send all of your good thoughts and prayers Keira’s way! ❤🙏🏼

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.

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.

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! ❤

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.

One Last Hospital Stay for 2020

Just so we could really round out 2020, Olivia and I are currently going on our 2nd night in the hospital at San Raffaele.

The other day around 2am she started to get a fever and it kept coming back. The following morning (yesterday, the 29th) it was accompanied by some strange eye movements. So after a call to the pediatrician on call in we went.

While awaiting a urine sample (because we suspected it to be a UTI), they took a blood test which confirmed her CRPs were up significantly (a c-reactive protein test measures the level of c-reactive protein (CRP) in your blood. It’s sent into your bloodstream in response to inflammation).

We were then admitted and taken to get her an EEG because of her eye movements that morning (she kept blinking and looking around and it was as if she had trouble keeping her eyes open). Keira had an EEG before as part of her gene therapy treatment so I was prepared – they put a little cap over your head with nodes in it that have gel, and the wires are connected to the machine they use. Results, thankfully, came back normal. Her eye movements were determined to be due to her very high fever (nearly 105) and we were instructed to call immediately and video it if it happens again.

Since then, Olivia has been on antibiotics via IV to take care of the infection and Ibuprofen/Tylenol to handle the fever.

Today, they also did an ultrasound of her kidneys to make sure everything was functioning properly.

After more antibiotics today and a blood test tomorrow we will hopefully be discharged so we can ring in 2021 with the rest of the family and not here at the hospital.

What a year it has been! Never a dull moment. Full of surprises. But also full of hope.

Here’s to a much better year in 2021! 🎆

3 Months Post Gene Therapy

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.

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. ❤❤❤❤❤❤❤

Italian Cooking Lessons

With COVID-19 being an ongoing issue, we haven’t been able to get out and do much of anything during our time here in Italy. But we have been blessed to meet some truly wonderful people who have taught us a thing or two in the kitchen.

Laura came over one day to teach us how to make a proper Italian pizza. She and Silvio always make their own dough but because it takes 2-3 hours she did that ahead of time and brought it over. She said the bakeries here also premake it for you to purchase to save time.

Eva took everyone’s orders – she and Laura were making cheese pizza and olive pizza with capers – then started rolling out the dough. We always try to keep Livvy as involved as we can so I helped her roll some dough too.

Next steps were spreading the sauce, putting on the mozzarella and drizzling some olive oil.

After adding any toppings, the pizzas went in the oven and ta da! The perfect Italian pizzas were made! And they were delizioso!

Our next lesson came from Luciano, who taught us to make a great pesto sauce for any pasta.

Take some tomatoes (supplemented with some tomato sauce if they are not as ripe or in season), basil leaves, olive oil, cheese (we used parmigiano I believe along with a goat cheese), pine nuts and blend it all up in a food processor or with a hand mixer. And you’re done!

Luciano also gave Dave a great recipe for pasta with broccoli and another homemade sauce. It was so easy to make that Dave no longer wants to buy pasta sauce at the store. Super easy and even our toughest critic (aka pickiest eater) Eva liked it! 👌🏻

Last but certainly not least, tiramisu! When Roberto heard we really enjoyed that he surprised us by bringing over the ingredients one day so we could make it while Eva and his daughter Chiara played. Here’s the recipe from Dave’s notes:

Tiramisu

Espresso 200ml-ish
Put into bowl to cool

1/2 kg marscapone
Sugar
6 eggs
Savoiardi biscuits

Separate yolk and whites
Whip/froth whites
Put marscapone into mixing bowl
Fold in whites
Fold in yolks
Fold in sugar
Then whip again

Dust pan with Cacao zuccherato
Dunk biscuits (quickly) into coffee and layer pan.

Layer chocolate chips

Then layer marscapone whip

Then dust more cacao zuccherato

Switch biscuit direction for next layer and repeat.

Then let it chill in the fridge overnight. We can guarantee it is so good! And much easier to make than we would have thought. Hope you enjoy it as much as we did!