Mom Needs a Nap

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!

Chemo Side Effects for Keira

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. 😊

The Box & Livvy’s Future

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.

Until today…

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…

My bed and her bed. To the left a desk and cabinet, behind me the bathroom.

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.

Happy Re-Birthday Baby Girl

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).

The tiny bag on the upper right with clear liquid is one of two bags that held her stem cells.

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! ❤❤❤❤❤

Ready for a Rebirthday

Yesterday it hit me. The enormity of what Keira is about to go through tomorrow. And how it wouldn’t have been possible without Livvy going through this first. She truly is the hero of Keira’s story. If only hers could have a different ending…we can only hope.

I usually power through each day, not focusing on the surgeries or the tests or the bloodwork and the medicines but the end result; Keira one day running, talking, going to school, being sassy to her parents, having pool parties in the summer and stealing her sister’s clothes. It is always eye on the prize.

However, I am usually too busy in the moment to really think about it. But last night it snuck up on me.

Keira is one of only 31 children in the world to receive this treatment. The process by which they make this happen is incredible. The fact that it’s even possible, and that it really works? Even more so.

While there are no guarantees, we have SO much hope based on everything we have seen.

At first I thought calling her gene therapy day her “rebirthday” was a little silly but it’s just accurate. Friday, October 2, 2020 will be the start of her new life. The life she should have had originally. The life that will promise all the things we normally take for granted every second of every day. The life she will live for not only herself but for Livvy as well.

I’ve said it many times before but every day of our lives since hearing Livvy’s diagnosis initially has been unreal (and it got even more unreal from that point forward) but this day may take the cake. I guess we’ll make it a “rebirthday” cake. 😊❤🎂

Keira done with chemo and still happy as a clam! 😁

Chemotherapy & Blood Transfusion

We are on day three of four days of chemotherapy and Keira is doing great! Still eating well, sleeping as normally as she can between blood draws, has great color and is being her usual happy self!

Yesterday was a MUCH better day in thanks to a nurse named Marino who came in and got an IV placed in Keira’s foot in 5 minutes by herself! She’s my new hero after the IV debacle the first day of chemo.

They say Keira could start losing her appetite this week (so far so good though) and that the side effects of chemo (mucositis, hair loss, vomiting, etc.) won’t not occur until day 10 or after.

They’ve been leaving us to ourselves most days aside from nurses bringing in medicine, taking vitals and the physiotherapists coming in to “play” with her once a day. It’s not until the evening, after chemotherapy, that they need blood draws every two hours (in order to determine the next dose of Busulfan needed). Since tomorrow is the last day of chemo, tonight is our last night of blood draws (then hopefully we can get some sleep)!

One new thing on the schedule today was a blood transfusion, which they say is normal. Because of the continued blood draws during chemo they need to raise hemoglobin levels and this is how they do that.

Reading books while getting her blood transfusion.

Many have been surprised that chemotherapy is part of gene therapy at all but the reason is they need to weaken the immune system and make room in the bone marrow for the renewed stem cells with the corrected genes and ARSA enzymes which will be administered via IV through a virus (with the bad parts of said virus removed) in the gene therapy treatment on Friday. Once the new cells go into her bloodstream they will travel to the bone marrow and begin making new red and white blood cells. From there they monitor her closely as levels begin to increase and then she will hopefully live a long and happy life thereafter!

It’s honestly amazing this is even possible, and we are clearly so glad it is. The entire process is fascinating. I’ve always thought if I could choose another profession in another life that being an archeologist would be fun but now it may be a doctor doing this; not only because it’s a truly mind-blowing process but more so to be able to change the lives of so many children and their families like they are doing for us. Our world is changed for the better and we are so grateful.

Up next: Keira’s “rebirthday” on Friday, October 2nd! ❤

Chemotherapy for Keira

Well. This day did not go as I expected.

I was nervous for chemotherapy to start mainly because of the upcoming side effects but really didn’t know what chemotherapy itself entailed. And I ended up finding it, thankfully, very anticlimactic. They put the syrgine of Busulfan in the machine and in it went to her IV over the course of 3 hours. She didn’t notice a thing and that was that. Major relief!

The blood draws to follow, however, were a completely different story.

We have now been through SEVEN failed attempts to place an IV in one of her arms.

First, let me share the point of this. While they could easily draw blood from her central line, since that is where they had to run the Busulfan through they needed another vein or entry point to draw blood for the following regular checks to ensure the Busulfan was doing what it was supposed to in her system. Pulling it from the same line the Busulfan went in wouldn’t provide accurate numbers.

So, a team of 3 nurses came in to place the IV in her arm. On the third attempt by the same nurse she got it but then looked away for a second and let Keira’s arm go; allowing her to bend her arm WITH the IV needle in it. My jaw dropped. I wanted to faint. After getting the bleeding to stop she immediately tried again to no avail. I was furious. They could barely speak English and all left the room without saying a word.

One of them came back with a new nurse a few minutes later, letting me know they would need to try again. To which I was able to explain it would NOT be done by the same nurse who did the first 4 attempts. They agreed that was fine.

Attempt number five: three people from that team (minus the initial nurse) all made an attempt (with the same needle). No dice. I’d had enough.

Attempt number six: I, of course, had just gotten her to sleep after her traumatizing evening when the night crew came in to do the 9pm draw. I will preface this by saying I really like the night crew because Keira was so taken by them on our first night here. While they were able to get the blood they needed the line wouldn’t stay.

Because additional draws were needed at 11pm and 1am they would be back again for the next attempts.

So here Keira and I await them while she plays, laughing in her crib. THAT sound, and the end result of all this, makes the rest fade away. On to the next day…

Gene Therapy Day 1

Since we arrived in Italy it was like a weight had been lifted off my shoulders. We made it. Keira would have a chance at a normal life and all will be well.

A few days ago, however, I was a nervous wreck and my stomach was in knots. Livvy hadn’t been doing well and Keira’s admittance into the hospital was just around the corner.

There was A LOT to do to prepare for this extended hospital stay, where we would be in an isolated, sterile room for 40-60 days.

A panorama of the room. The little couch pulls out into a bed for whichever one of us is here and there is also a big closet (not shown) to keep our things.

All clothes brought into the room needed to be washed with special detergent and put into ziploc bags to prevent germs and infections getting in. All clothes also needed to be changed every 24 hours and not used again until rewashed which means for one week you needed 7 pants, 7 shirts, 7 pairs of underwear, socks, etc. We needed to buy padlocks for the lockers in the common area, shoes that were able to be washed that we could ONLY wear in the isolation area, face masks, unopened items like toothpaste, toothbrushes, handsoap, etc. And the only food/drink that could be brought in had to be pre-sealed. Anything opened must be thrown out within 24 hours even if it keeps just fine in the fridge provided. And that’s not even all of the guidelines.

After getting everything ready to go this morning, my parents, Dave and the girls walked us to the hospital. A surreal moment, knowing what was ahead.

We said our goodbyes, gave hugs and kisses and got checked in.

While I forgot one or two things that Dave will have to bring for us, I’d say we did pretty well.

Now, we are settled in and officially starting Keira’s gene therapy treatment!

The first day was easy. They did bloodwork, cleaned and redid the bandages surrounding her central line, and gave her a few medications, along with liquid through the IV that goes to the central line.

Every time she drinks milk we also have to use a swab dipped in a specific formula, followed by a droplet of another liquid, to clean her mouth and prevent any mucous build up or infection.

Tomorrow, we start 4 days of chemotherapy. This is in order to breakdown her immune system and make room for the new genes that will be given to her on Friday (other MLD families call the gene therapy day their “rebirthday” since this is essentially the start of their new life without the terrible symptoms of MLD).

While we are beyond excited for that day, chemotherapy is scary. Especially for the Mom of an 8 month old. The usual side effects that accompany chemotherapy can also effect her (hair loss, mucositis, etc). And from what we hear from other families, the mucositis is the worst of them, as the pain in their mouths may prevent them from eating normally for up to two weeks. After that, it sounds like they bounce back rather quickly.

While we know the “plan” for these 40-60 days, I’m sure we will have our ups and downs. But as I told my friends, “eyes on the prize”. In this case we have to focus on the destination more than the journey. We have seen the results that this treatment provides for other children and are beyond grateful to be able to give this chance to Keira. ❤

Another Step Forward

Yesterday, we got discharged from the hospital after a two-night stay for surgery to insert Keira’s Central Venous Catheter (CVC). This is required for the remainder of the upcoming treatment so they can not only insert the corrected stem cells but also administer chemotherapy, draw blood and give meds.

Thankfully, all went well with the surgery and she was soon back to her normal smiling self. The catheter doesn’t seem to bother her at all but the big bandage on top of it she wanted off ASAP.

Thankfully they removed it before we left and put on a different bandage that was much less bothersome.

Next up: another neuro and PT evaluation followed by being admitted for the gene therapy treatment at the end of the month! 🤗

Keira’s Leukapheresis

One day when we were back home in Arizona, we were being interviewed by a reporter who asked to describe the gene therapy treatment we were hoping to get for Keira. Dave said it best when he began to answer with “It’s something out of a science fiction novel…”

The process by which they do all of this is remarkable. But simply put, they extract stem cells, put them into vectors, take out the bad genes, replace them with good ones and then reinsert the stem cells into the body via a virus (without the bad parts of said virus) so that it quickly spreads throughout the body. 😳

Step 1 is leukapheresis, the removal of stem cells. In order to do that, Keira had to have a central line surgically placed into her femoral artery. That is where they would hook up the machine that would process her blood and remove stem cells.

It was a quick surgery and as with all IVs she gets, once they are placed she doesn’t even care they are there and just wants to continue playing like normal (fun for Mom who gets to watch her every move and make sure nothing gets tugged on or twisted).

Straight from surgery she went to the leukapheresis room to get hooked up to the machine. Each session would require her laying (optimal position for extraction) as still as possible for 4 hours. No easy feat for an almost 8 month old who is on the move.

The cords you see coming from her central line go to the machine behind her. That one machine does it all! And that is Paola who was absolutely wonderful! Keira would light up when she saw her and she was so kind to bring me espresso each day.

The first session was a little easier as Keira was coming out of sedation from the surgery and was tired. The second day I had to pull out some distractions. Thankfully, we did not need to do a third session as they got the maximum amount of stem cells needed for the procedure.

They generally hope to get around 30 million stem cells per kilo (which I hadn’t known prior). So when they told me on the first day they got 10 million stem cells per kilo I thought ‘Wow, great! We’re done in one session.’ Not so much. Thankfully they were able to double her dose of the medication used to stimulate the stem cells’ movement throughout the body so on the second day they were able to extract 32 million stem cells per kilo! Of the 42 million total, 5 million will be used as back up and the rest will be used in the gene therapy, giving her the maximum dose for the procedure.

A closer look at the leukapheresis machine. The bag on the upper right is the collection of her stem cells.

It was really crazy to see all of this happening in one machine and Keira laying there happy as a clam like nothing was going on.

Around us were three other beds with people also receiving stem cell removal. They were all older men and women who got a kick out of Keira smiling at them, and blabbing on and on. “Bella!” or “Bellisima” they would all say. 🥰 Hopefully she brightened their days a little as they brightened ours!

Next step for Keira: surgery on Monday to have a permanent central line placed for the upcoming gene therapy.