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.
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!
It has been a whirlwind to say the least. Not just this entire journey but these past 26 days in isolation with Keira as well.
I was hoping to write an update sooner but hadn’t gotten to it solely because I’ve been exhausted. As my Aunt Deb says, you don’t go to the hospital to get good sleep. That’s for sure (at least for the caregiver anyway). With Keira needing to be on so many meds through her central line – specifically these past 10 days – there was always a machine beeping or a nurse coming in and out. Now that she’s starting to feel better the meds are more minimal and my nighttime naps span a little bit longer in length.
Keira is definitely back to her happy self. She’s playing, babbling non-stop and even starting to side step while she is standing on her play mats or in her bed. She’ll be cruising furniture – and walking – in no time!
As far as the science behind her recovery goes, here is the latest:
Thus far, she has had 3 blood transfusions, 2 platelet transfusions, her mucositis has subsided (and as such her neutrophils are rising), she is currently off of morphine for pain and is beginning to drink and eat again on her own.
Her hemoglobin levels have stayed on the higher end which is a great sign of engraftment and her Monocytes (a type of white blood cell) are also on the rise, which is another sign her body is processing things as it should. (I think I said all that correctly 😆). So far so good!
Now, we just continue to monitor as levels rise and around 30 days following her gene therapy (the first week of November) she will have a bone marrow aspirate to really look and see how the body has accepted the renewed and healthy stem cells.
It’s amazing we are at this point and we are so grateful to everyone who has helped us get here and get her this treatment. ❤🙏
But one bittersweet thing: this weekend Dave and I will switch out. Meaning my time in “the box” will be over and his will begin for the remainder of her stay. While I will not miss the hospital food or the broken sleep I will be so sad to be away from Keira these next few weeks. Dave needs some good one-on-one time with her though and I am in major need of time with Eva and Livvy (and my parents too)! I miss those girls and can’t wait to have cuddle time with them both!
We will continue to keep everyone updated as we venture forward. Halloween is coming up and we are determined to still make it a fun one (for Eva especially) since they don’t exactly celebrate it here like we do at home. 🎃
Keira and I have been in the hospital for 20 days now.
Originally, the plan was for Dave and I to switch each week or two. However, because of COVID-19 concerns and him flying to Amsterdam each week with Livvy, they wanted me to stay until Keira was past her mucositis phase, when her immune system would be at its lowest. Fair enough.
The sleep (or lack there of) schedule has been rough. And as mucositis kicked in Friday night (Oct 9th) even more so.
As all the side effects began she needed more medicines to keep her out of pain and more snuggles with Mom. While some nights she was able to sleep well (thanks Morphine), I, however, had to get up with every beep of the machines, which meant one medicine was done and it was time for the next. Time to get up, pause the noise on the machine and hit the nurses button. This happens hourly throughout the night.
Usually by the time they take her daily blood draw at 6am she can go back down until 9am so that gives me a good 3-hour block of time to sleep more and sometimes hurry up and shower while she sleeps.
Needless to say, Mom needs a nap. Or a spa day. Or both.
Once the mucositis started on Friday, so did the hair loss. But only a couple hairs at a time. Now it’s becoming a little more but nothing extremely noticeable when you look at her.
Two days later, on the 11th, she needed a blood transfusion because her hemoglobin levels were low, on the evening of the 12th she needed a platelet transfusion, on the 13th she got a immunoglobin infusion, on the 14th, she needed another blood transfusion and today, the 15th, she needs another platelet transfusion.
This is all normal and par for the course at this stage in the game. They also took an xray for pneumonia (which came back negative) and did an ultrasound of her liver (which looked great).
And I was beyond happy to see her acting more like her normal self for the first time yesterday. Smiling away and even playing! 🤗❤ It made our day and so far she is feeling good today as well.
Can’t wait to see our strong girl push through this phase and be on the road to recovery and a normal life without all the struggles and pain that comes with MLD. Truly a blessing and a miracle!
I’m sure I’ll update this post a few times (scroll to the bottom), as I know more side effects will be coming. But over the past few days the chemotherapy side effects began for Keira.
First, was the loss of appetite. She started veering away from solid foods and only wanted milk.
Then it was diarrhea. Ugh.
And while I learned that chemotherapy does not effect children with as much nausea and vomiting as adults because their skulls aren’t yet fully formed so there is less pressure building up in the brain, the vomiting began nonetheless. It only happened once on Monday, twice on Tuesday but on Wednesday…woah. I went through 8 outfits for her, 2 for me and lost count of how many times she threw up (at its worst it was 6x in one hour). She couldn’t keep milk or her meds down. Finally they gave her anti-nausea medication and it helped SO much. She was fine after that and they have given her that each day now.
I know mucositis can worsen (which is what is partially causing loss of appetite) but sores can begin to form in her mouth that cause pain. This generally happens when neutrophils (the most common type of white blood cell) hit zero. She was at 600 yesterday but down to 200 today so they think in the next day or two we can expect to hit zero and will probably need to feed her through the IV.
And, of course, the most well-known side effect of hair loss is yet to come. I hope it doesn’t but she has so little hair now that I’m sure it’ll grow back in no time.
Weight loss can also sometimes be an issue but despite all the puking she remains stable. When we first arrived to Italy in August she weighed 9.99kg and got up to 10.76 kg before this extended hospital stay. In the past week she has gone down to 10.1kg (then yoyoed throughout the week) and is up to 10.91kg as of yesterday.
And all of that aside, she continues to be in great spirits! The puking doesn’t even bother her and she goes right back to smiling and playing. Such a trooper! We are so grateful she is such a strong baby girl!
I’ll continue to update this post as things change but so far not bad!
UPDATE 11/10/2020: Keira has had a rough few days. The mucositis worsened causing some bad pain in her throat and she is still unable to eat or drink. Even swallowing saliva hurts her. So she is on pain meds for that and is getting calories added to her electrolytes to ensure she gets the proper nutrients. She also continued puking and gagging so she is on anti-nausea meds as well.
Her hemoglobin levels dropped within the past day so she needed a blood transfusion. And this was also the first day her hair began to fall out. 🥺 She doesn’t have too much to begin with though so hopefully it will all come back quickly.
The pain in her throat seems to be the worst part. And she is not even interested in playing and just wants to be held by Mom every waking moment (which is fine by me)! While her constant smiles are now few and far between the nurses and I still manage to get a few out of her each day. 😊
This afternoon, without notice, two nurses came in and said we had to move rooms…right now. 😳 “Is this normal procedure?” I asked the nurse who was already in our room at the time. She informed me that we were apparently in an adult room and because a baby room became available we can move there.
Now let me back up for a second. When we first heard of gene therapy here in Italy in June we heard tales from other families of the isolation rooms being called “the box” due to their tiny size and the fact that you are stuck there for 40-60 days. So, of course, I was pleasantly surprised when we arrived to our isolation room on September 26th to find a quite spacious room with two large windows and distant views of the Alps. I wasn’t sure what all the previous fuss was about.
Once I walked into the new room I knew it immediately. It was THE BOX. It is half the size of our old room, has a smaller bathroom and there is only one window with views of a hospital building roof and apartments across the street. Ugh…
It also has an adult size mattress (in length) in the crib so the electronic bed has to push the mattress vertically at one end. The mattress is also a little thicker than the baby mattress we had in our original room (which we were told we could not get back because it had to return to the pediatric ward), which means Keira (who is now standing up constantly) is a little higher in the crib and there is no way I’m stepping away from her while she is standing in it. After asking a resident about switching the mattress I was then told these are the mattresses they use even for babies. Hm.
So after a disappointing move, we ate dinner via video chat with Dave, the girls and my Mom and Dad, then had a call with the Arizona Early Intervention Program back home regarding Olivia.
What we thought was a regular check up meeting was apparently a meeting about transitioning her out of the program at age 3 (next summer) and moving on to preschool. 😳 Uhh what?
They jumped right into what preschool looks like for special needs children in our school district…4 days a week for 2-3 hours each day whether it be PT or OT needs and having socialization with other children. And possibly being strapped into a school bus in a wheelchair for transport there. No. No. And no were my first thoughts. I immediately started sobbing, sitting in the box, holding Keira, with my microphone on mute.
I wondered if they fully grasped what shape she is in and at what stage of this disease. Olivia can’t walk, she can’t talk, and she is often in pain and is very particular about who holds her. She currently doesnt even have a chair or other place she can sit by herself because she can’t support her own body (we are in the process of getting one customized for her). So, exactly, how could she go to school? Would she even let a stranger try to comfort her? Would this teacher even know how to calm her down when she is in extreme pain? And being around other children is in and of itself a problem. Coronavirus aside, any cold or illness she could get can progress her disease overnight. It could hospitalize her and put her in far worse shape than she is already in. And shipping her off on a bus, helpless and alone? No way. Just imagining all of that was too much.
It was not a call we were at all prepared for nor thoughts we were prepared to face. While we still have time to decide what life will look like for Livvy once we are back home, it is daunting, scary, sad and overwhelming to think about her future and it being cut so short by this terrible disease.
While we pray for a miracle, we hold on to hope that the treatments from her clinical trial begin to make at least some difference. Because MLD can progress so quickly we truly have to take things day by day. And while her future may not include traditional schooling, we know it will always include as much joy and love as we can possibly give her.
At 11:42 a.m. today (Milano time), our baby girl Keira had her re-birthday! A day we never even knew existed prior to the end of June 2020, when we found out her diagnosis after our middle daughter Olivia was also diagnosed with MLD in March.
The entire day was rainy – not a “happy” type of weather for many but for our family from Arizona, where we see 300+ days of sunshine each year, we LOVE the rain! It was perfect.
In the isolation room at the hospital only one of us can be with Keira at a time. But on this special day they allowed Dave to join us so we could both be with her when she gets her renewed stem cells.
It has been 6 days that she and I have been in the hospital while she received meds and underwent chemotherapy before her gene therapy treatment. To say she was excited to see her Dad was an understatement. It was adorable to see, yet also heartbreaking knowing it would be at least 15 more days until she could see him in person again.
While she bounced around on his lap babbling away the nurses began to come in and get things ready. With her central line catheter already in place it didn’t take long. They placed some stickers on her chest to monitor heart rate, attached the IV and before we knew it they said “We started!”
I was looking for a bag of blood similar to what they took out of her during the leukapheresis stage and here was this tiny little bag of clear liquid (see below). In that bag and the other one to follow were hundreds of millions of stem cells ready to go back into her and correct the faulty genes she had prior. Thus creating the ARSA enzyme her body couldn’t previously create and allowing her to live a normal, happy life. It was such a simple procedure to have these go right through her central line, yet an incredible, unbelievable and life-changing moment (which we recorded and will soon share).
It was a moment we also had to share with family. And we did so with a Zoom conference call (of course). Here in Milan, my Mom and Dad (Karen and Michael) tuned in with our other daughters Eva and Olivia, in Indiana my Aunt Deb and Uncle Ron joined in, and in Arizona we welcomed Dave’s Mom Tammy and Step Dad Geoff, Dave’s Dad Dave and Step Mom Jan and the girls’ neurologist who initially diagnosed Olivia, Dr. Vinodh Narayanan (it was 3am in Arizona at the time).
It only took but an hour to complete. We thanked everyone, said our good byes and I love yous and spent some time with Keira before she took a (very brief) nap.
The rest of the day she was SO full of energy…almost acting like it was her birthday and she was excited. 😉 Her 30-minute nap was all she needed and she bounced around and played for the remainder of the day. Until I finally got her to sleep around 8:40 p.m.
As with each of our girls, they are always the happiest babies. She has not been phased one bit by anything she has gone through these past few months. It’s amazing. She is incredibly strong and already so brave. We can’t wait to see where that takes her in the lifetime she now has ahead of her.
It is now 9:45pm on Friday, October 2, 2020 and I am watching the rain fall while Keira is sound asleep. I hope her dreams are as precious as the future we dream of for her every day. Happy Re-Birthday sweet girl! We love you SO much! ❤❤❤❤❤