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. 😊

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! ❤

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.

The Beginning of Keira’s Treatment

The day finally arrived! On Friday, September 4th we took the first step in Keira’s gene therapy treatment!

After being admitted to the pediatric floor of the hospital they put in an IV (which needed to be taken out and redone the day after), took blood samples (which they do daily) and every 12 hours inject a medication that will prompt her stem cells to be released from the bone marrow and into the bloodstream.

On Monday morning, she will have surgery to place a central venous catheter followed by the leukapheresis procedure for collection of stem cells.

So far, she’s been handling the hospital stay great and gets over any pokes fairly quickly. The only thing that really holds her back is the IV on her foot and the bandage protecting it.

That aside, she’s having no trouble keeping me up at night.

One thing I came prepared for (for her anyway) was bringing food from home (bananas, avocados and berries). I’d heard stories from other gene therapy families about the difficulty of them understanding that a baby this age eats normal foods (in addition to formula) and not pureed or processed foods. I’ve also heard the food at the hospital is just plain bad. They were right.

I’ve told them multiple times about her diet and they still bring the pureed, processed and soupy foods. For me, here’s an example…

I don’t know what this was but it smelled , and tasted, like black licorice. 😝

Food aside, the rest of our stay so far has gone well and the staff is amazing.

To say we are excited about this treatment and the life it will allow for Keira (and all of us) is an understatement.

What’s next? After this, we go home – to our new apartment instead of the hotel we were staying at – for a few weeks before Keira is admitted to the hospital for 40-60 days for the remainder of the treatment. That will include chemotherapy, the gene therapy itself (administration of corrected cells), followed by ongoing bloodwork, scans and other tests to ensure her body is safely accepting treatments and all levels are returning to normal.

Thank you everyone for the outpouring of love and support throughout this process. It means the world and we will continue to keep you updated on our journey! ❤

The Riley's Road to Italy

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