This weekend, we have the honor of attending one our best friend’s wedding in Montana. While Dave (the Best Man), and Eva (the flower girl) have been there since Thursday for the rehearsal, I am heading out today (Saturday) so that we only leave the other girls (Livvy specifically as she is the most medically fragile) for one night.
Ever since I left the house this morning I felt sick to my stomach. I even slept terrible. But I know she has been doing well this week and my parents are taking excellent care of her at home. Yet there is still that nagging feeling, or feelings, of dread, sadness, separation anxiety and nausea, but also hope and reassurance. It’s a weird mix.
I never used to be this way prior to the girls’ diagnoses. I’d enjoy our child-less nights while the girls were with grandparents and have complete peace of mind. Would think nothing of it. But now even when Eva or Keira stays overnight with grandparents I miss them…a lot more than I used to. It’s weird without them around and I feel like it’s only because we know how fleeting life can be. We know how important every moment is with them. We know our world can change in a matter of seconds.
It is so weird to now think of life with such finality in every choice or action but I suppose when you have a child with a terminal illness it is inevitable. Life is fleeting.
So it is especially hard leaving this time because it is the first time since the girls’ diagnoses that both Dave and I have been away. And with Livvy only continuing to decline we have no idea how much time we have left with her. It could be days, weeks or even years. The disease is so rare that doctors won’t give a timeline.
So as I sit in the airport terminal forcing myself to eat something I am also trying to push away the butterflies; reminding myself that she will be ok for one night. She knows where I am and who I’m bringing back home with me tomorrow. She smiled when I told her.
But I will think only of her and Keira’s sweet faces until the moment we get back home and see them safe and sound. 💜💜
Today, we helped make history. Albeit, a small part. But it will save the life of a girl diagnosed with MLD. And to me, that is everything.
Just days ago I was informed of a 4-year-old girl from Alabama who was diagnosed with the juvenile form of Metachromatic Leukodystrophy (MLD) – the same disease, but a different form, that Livvy and Keira have – and who was currently in Minnesota ready to be the first child with MLD to recieve gene therapy in the United States.
Orchard Therapeutics had donated the therapy itself (as they did for Keira in Italy), the FDA even offered approval on this one-time basis. But Blue Cross Blue Shield of Alabama suddenly denied coverage. Her life-saving treatment immediately came to a stand-still.
The Hamlett family – Mom Kassie, Dad Gary and daughter Celia Grace – were devastated. There they were at the Ronald McDonald House in Minnesota with their dreams of a normal life for their daughter thwarted. Without this treatment she could potentially only live to the age of 13 (the average life span of children diagnosed with the juvenile form of MLD).
Maria Kefalas of CureMLD.com looped me into the conversation regarding helping this family and I couldn’t not do my part. I immediately wrote up a press release that we could use on a local and national basis to share the Hamlett’s story with the media and how they now needed to raise the $300k that Blue Cross wouldn’t cover (despite the coverage costs of her care without it being in the millions). We had one week to do so.
My next step? I had to contact Blue Cross Blue Shield of Arizona. They are the reason we were able to stop fundraising sooner than expected for Keira. They heard our story last year, and their kindness and compassion outweighed the red tape.
As one of their executives once said on a Zoom call“we are building the plane as we are flying it”; this was NEVER done before in the history of the United States insurance coverage for MLD. But they managed to cover treatment costs for Keira and the rest of the money we raised went to travel, lodging, food, expenses, and a fund for all future travel for the trips to Milan that we would have to make every 6 months for the next decade of Keira’s life.
Now, I was asking them to help one more child. But unfortunately the policies for claims and coverage varies from state to state. So they reached out to the Alabama reps to share their experience in Keira’s case in hopes it could help 4-year-old Celia Grace.
Just two days later, today, I received a call from Gary and Kassie Hamlett…they had just gotten off the phone with Blue Cross Blue Shield of Alabama who decided they will now cover everything for Celia Grace (after their case was already denied twice). It was truly a miracle. And as we have seen/heard many times before in recounts of historic moments, it is kindness and compassion that made history.
Celia Grace Hamlett will now be the first child to receive gene therapy for MLD in the US.
I am beyond honored to have been a part of this wonderful family’s journey; to have saved another child even though we couldn’t save our dear Livvy. I hope to one day give the Hamletts a huge hug and see Celia Grace and our Keira playing together as any “normal” kids would.
Yes, the world is constantly changing. But I truly believe it is kindness and compassion leading the way.
When you become a parent it’s almost automatic to write down the dates of your children’s milestones. Rolling, sitting, walking, talking, running, etc. But when they have a terminal illness like MLD, you begin to avoid those dates because it generally means loss of milestones.
Looking back at my notes, I did not put a date, or even a month, next to when Olivia stopped talking. Stopped walking. Stopped sitting up on her own. Or lost control of her legs entirely.
But I did recently write down a month for when she stopped being able to eat and drink on her own. It was this month, July 2021.
We had been working for weeks to keep her eating orally as much as possible and drinking from the one sippy cup that she could actually sip from. But there was no denying this was something she could no longer do.
Sometimes she could barely open her mouth to put food in it. Things that she could normally get down no longer worked and would cause her to choke. Even water in her sippy cup didn’t work. We thought of thickening it as some MLD families do but she simply could not use the cup to make a sipping/sucking motion at all.
She is now 100% fed through her GTube. She gets Kate Farms formula for nutrition, water and her meds all through the tube. However, we do give her small amounts of water and juice in her mouth through a syringe so she has something to enjoy and keep her mouth from getting dry.
This recent loss of development was one of the many reasons we also decided she would not be starting school this week.
On top of the eating/drinking issues she has become more lethargic and is experiencing more pain. This has required higher doses of Gabapentin and THC 3x per day. Sometimes we even have to use Valium when those don’t do the trick.
She also usually only wants me for comfort. Dad, Grandma’s and her nanny Sheena will work here and there but more often than not, it’s Mom she wants.
So as we continue to keep her comfortable amidst her decline we chose to not send her into a new environment potentially filled with germs and people she doesn’t know but to keep her home where she is most comfortable and we can spend the most time with her for as long as we have her.
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.
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.
I don’t like posting about the hard days. They are hard enough as it is. Why rehash it for everyone else?
What I like to see on social media is the GOOD. There is enough bad in the world and on the news every day. And while we have been dealt plenty of bad in life, there are ALWAYS good moments and that is what I like to share. The positivity. The smiles. The laughs. It’s what keeps us all going each day.
In the nearly 48 hours since Dave and the girls have been gone I can’t even tell you the amount of times Livvy has cried. Sometimes it’s pain related or because she has food stuck on the roof of her mouth or because she needs to burp but mainly it was because I needed to get something done so she had to be held or strolled around by someone else. The moment she’s back in my arms? It’s this 👇🏼
Will it be a long two weeks if she only wants to be held by me and cry with everyone else? Yes!
But I have to always remember these moments. The smiles, and the laughs and the fact that we have no idea how much time we have left with this sweet girl. Every day counts. Every moment counts. Every smile counts.
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).
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.
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.
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.
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.
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.
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. ❤
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.