Yesterday, October 2, 2021 was Keira’s 1st “re-birthday”, one year from the date that she received her renewed stem cells that would allow her to live a normal life.
It is beyond surreal to say that our almost-2-year-old is a 1-year survivor of MLD, of all things! And it is even more surreal that she is doing SO many things that Livvy never could because this very disease had already begun stripping away her abilities at this age (21 months old).
Just some of the things she can do now that she wouldn’t have been able to without treatment:
Walking
Talking in sentences
Running
Climbing
Walking up steps
Counting to ten
Learning her alphabet
Spinning around
These simple things, that we as “normal” parents can take for granted, are things that amaze us on a daily basis.
We are beyond grateful for so many people who helped us get her this life-saving treatment – not just the doctors and scientists who made it possible but the nurses, the hospital staff, the volunteer families in Italy who helped us during our stay, our own family, friends and even strangers who became so invested in our girls and their journey.
The connections we have made are priceless and Italy will forever have a special place in our hearts. We are looking forward to returning next year for her next check up. ❤🤍💚
Here is a flashback to one year ago today at Ospedale San Raffaele:
I absolutely cannot believe it has been (almost) one year since Keira received her life-saving gene therapy treatment in Italy (her official re-birthday date is October 2, 2020). Our time in Milan seems like a lifetime ago.
Yet here we sit at Phoenix Children’s Hospital for her 1-year post gene therapy check up!
And I am so happy to say I am not worried about her results one bit! She has been running, climbing and talking more and more each day. She is even advanced for her age in some ways and we are in awe of her every day.
While we normally would need to return to Milan for her follow ups, because of COVID the doctors there managed to figure out a way to do the testing here locally and send back her most important blood work on dry ice overnight to Ospedale San Raffaelle. While I love Italy and have no problem with returning, it is especially nice to stay home for this check up so we do not have to leave Livvy who continues to worsen.
As for the check up itself, we have a busy two weeks ahead which will include the following appointments:
Bloodwork
Ultrasounds (abdomen and thyroid)
MRI
Echocardiogram
EEG
Appointments with Pulmonary, Pathology and Neurology
There might be one more I’m forgetting but needless to say, there are a lot of things they will be looking at to ensure she is developing normally.
The one thing in particular which can only be checked in Italy is one of the results from her bloodwork which looks for any ARSA antibodies. The ARSA enzyme is something her body could not create prior to gene therapy. And now that is does her body began trying to fight it because it wasn’t used to it. However, the antibodies have only gone down in numbers since and hopefully at this point will be completely gone. Keep your fingers crossed for us there!
We will be sure to keep everyone updated once we receive her results. Thank you for your continued prayers, love and support! It means the world! ❤
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 receive gene therapy in the United States.
4-year-old Celia Grace Hamlett
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.
This morning, Dave and his Mom, Tammy, left for Italy with Eva and Keira for her 6-month post gene therapy check up. I’ve been dreading splitting up the family for this trip but it was the only way we could make it work. The trip would have been too hard on Livvy. So off they went. And I cried like a baby.
It will be nice for Livvy and I to have some quality time together but I will definitely miss my other girls (and Dave too). 😊 Thankfully, my Aunt flew out to help me take care of Livvy since it’s nearly impossible for just one person to manage her care.
As for Keira, I’m actually not really worried about her check up. She has been developing normally and is even advanced for her age in some areas.
Her treatment itself was done on our initial trip but they recommend check ups every 6 months that will eventually turn into every year. What they are mainly checking for is a complete lack of ARSA antibodies (and any symptoms of the disease). At her 3-month check up before we left Italy in January she still had some antibodies (her body’s way of fighting the ARSA enzyme that her body never used to create before gene therapy). So they need to ensure those are decreasing or completely gone.
Here is what they have on schedule for the next two weeks:
Neurological evaluation
PT evaluation
Psychological evaluation
Blood chemistry samples
Abdominal ultrasound
Electroencephalogram
Echocardiogram
Visual and auditory checks
MRI
Bone marrow aspirate
Lumbar puncture
Electromyography
Endocrinologal visit
It’s a lot. But really there’s only one day with sedation and the rest is spread out throughout the two weeks so they’ll still have time to relax and see a couple friends between those rainy days in Milan.
We’ll continue to keep everyone updated! Send all of your good thoughts and prayers Keira’s way! ❤🙏🏼
Just so we could really round out 2020, Olivia and I are currently going on our 2nd night in the hospital at San Raffaele.
The other day around 2am she started to get a fever and it kept coming back. The following morning (yesterday, the 29th) it was accompanied by some strange eye movements. So after a call to the pediatrician on call in we went.
While awaiting a urine sample (because we suspected it to be a UTI), they took a blood test which confirmed her CRPs were up significantly (a c-reactive protein test measures the level of c-reactive protein (CRP) in your blood. It’s sent into your bloodstream in response to inflammation).
We were then admitted and taken to get her an EEG because of her eye movements that morning (she kept blinking and looking around and it was as if she had trouble keeping her eyes open). Keira had an EEG before as part of her gene therapy treatment so I was prepared – they put a little cap over your head with nodes in it that have gel, and the wires are connected to the machine they use. Results, thankfully, came back normal. Her eye movements were determined to be due to her very high fever (nearly 105) and we were instructed to call immediately and video it if it happens again.
Since then, Olivia has been on antibiotics via IV to take care of the infection and Ibuprofen/Tylenol to handle the fever.
Today, they also did an ultrasound of her kidneys to make sure everything was functioning properly.
After more antibiotics today and a blood test tomorrow we will hopefully be discharged so we can ring in 2021 with the rest of the family and not here at the hospital.
What a year it has been! Never a dull moment. Full of surprises. But also full of hope.
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)! ❤
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!
Love that smiling face!
Climbing (and standing on) steps: check!
Thanks for the book Aunt Debbie!
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. 🎃
The Riley's Road to Italy 