Finishing Keira’s Room

I am just now finishing Keira’s “nursery” after her 2-year old birthday. Which is probably a surprise to no one. I was brainstorming what exactly I wanted to get to finish it up when we got Livvy’s diagnosis in March 2020. So needless to say, that got put on hold as we had bigger things to deal with.

I’ve thought about finishing it a handful of times this past year after getting home from Italy and always put it off. My thought process was “Why decorate it when Livvy could leave us any day and then i would just move Keira into Livvy’s old room so she and Eva could be closer?”

So I waited. A year.

MLD kiddos seem to have peaks and Valleys with their disease progression and she has really been on a plateau since having her seizure last month.

So I finally said enough is enough. Keira’s room doesn’t deserve to be on hold any longer. She’s a toddler now and the needs in her room have changed anyhow so I put a stop to my waiting game (which is honestly no way to live in a situation like ours…waiting and wondering ‘will today be the day?’ But that’s a blog post for another day.)

So out went the baby glider/rocker I’ve had since Eva was born, and in went an adorable canopy that I found on Etsy that is a great space for her to relax and play. The photos of her as a baby got moved, a canvas with Elsa and Anna went up, we put her name in lights (also found on Etsy) above her crib (which will surely be a toddler bed before the year is through) and here we are:

The cool space-like light was a gift from their Aunt, Uncle and cousins in Indiana and they all love it!

I was able to do all these changes to her room while she spent the night at a grandparents’ house and she was SO excited when she walked in! I wish I would have filmed it.

Knowing how happy her room makes her makes me wish I hadn’t waited. When you don’t get out much (thanks pandemic) having a space you enjoy is really important and I’m so glad she has that.

But of course now Eva wants her room redone too because Keira got all these new things…so here we go on another project. ๐Ÿ˜Š

A Very COVID New Year

Well, wouldn’t you know it that we started the New Year by welcoming COVID into our home?! On January 1st, Keira – one of the most sheltered of all of us – tested positive after an overnighter with grandparents, one of which also (unknowingly) had it.

Thankfully, only the first day was the worst with 100+ degree on-and-off fevers. And it’s been easy sailing from there. No cough or any other symptoms aside from fever. It’s now been almost 3 days with no fever and we are just awaiting that negative test for her to be in the clear.

To say it’s been quite the first week of 2022 is an understatement. With one of her grandparents also positive, they couldn’t help us juggle work and the girls. Our nanny couldn’t come here. Nor could other grandparents who have auto immune sensitivities. So Dave and I divided and conquered. I have been quarantining with Keira in her room while Dave stays with Livvy and Eva on the other side of the house.

As she gets better and better the harder it is to keep her quarantined. And let me tell you, racing behind her with wipes cleaning every surface or toy she touches is no easy feat. She’s fast!

On top of all this, we just found out another grandparent also has COVID! How this is hitting our family now, after all of our travels abroad for Keira’s gene therapy and Livvy’s clinical trial is beyond me. But here we are!

The first night, I’ll admit I was terrified. While I’ve kept COVID related news on the peripheral (because we have our own life-threatening problems) I couldn’t help but think about the horror stories. And I just had an older friend even pass from COVID. Would Keira’s immune system be up for this after all it has been through? My mind raced.

I couldnt help but think of all the people lost or suffering from this virus. Not to mention the many other diseases, natural disasters and million other dangers we face as human beings.

The amount of suffering placed upon any one person can be insurmountable. Unbelievable. Unfair. Downright cruel. But here we all stand, fighting. Fighting for the light. For the good. For health. For hope. For love. For family.

And fighting is not easy! After the past two years of what our family has been through, do I sometimes get tired of fighting? Absolutely. I want Livvy to be free from pain. I want Keira to live the life Livvy deserved. I want Eva to have her childhood back. I want no child to suffer from MLD ever again!

So to lose Keira from COVID after all we have done to save her, it’s just unacceptable in mind.

Thankfully, the universe and her immune system agree. She’s back to her normal self and soaking up all the alone time with Mom.

While we had to cancel her family-only birthday party on Sunday, we are so relieved to know that we won’t be in a hospital and we will still be able to shower her with the gifts and attention she so deserves. Our baby girl is turning 2!! And she has lost ZERO abilities to MLD thanks to the gene therapy she received in Milan. That is what I plan to focus on remembering from this time in our lives. NOT COVID!

Keira’s 1-Year Post GT Results

While we are still waiting for one last result (regarding any ARSA antibodies), I couldn’t think of better news to share to end the year: all of Keira’s other testing from her 1-year post gene therapy appointment have come back great!!

We are beyond overjoyed and so releived to know her MRI looks perfect, EEG was normal, her audio/visual nerve testing was “glorious” said the doctor, and all other bloodwork is in normal range.

The last test she had was for her neuro psych evaluation, which we were not worried about at all given her speech language pathologist’s recent assessment. But there is always that what if…

Dave had taken her to that appointment that morning (because only one parent is allowed still due to covid) and we were both so busy with work and the girls’ schedules that day that I didn’t see him until near dinnertime. Finally, he gave me the results: “She was above average in all categoriesโ€ฆexcept communication.” I looked at him shocked because she is speaking so well and then he finished…”in which she was extraordinarily above average!” ๐Ÿ˜๐Ÿ‘๐Ÿป๐ŸŽ‰

PHEW!! So much relief just washed over me.

We are so incredibly grateful that her body has accepted this treatment and she is doing so well.

At this stage Livvy was already losing her abilities to walk and talk so it truly is a miracle and a joy to see Keira developing and doing new things every day.

We are in awe of Keira every day and so grateful Livvy has been her guardian angel on earth.

Words cannot express our gratitude to each and every one of you who has been a part of our family’s journey to help Keira have the chance at the normal life that was taken from Livvy due to this terrible disease.

We wish each and every one of you a Happy New Year!

Livvy’s 1st Seizure

While I wouldn’t normally write a blog about something like this, I felt it was almost my duty as an MLD parent to share our story. Even the upsetting or sad parts. Because MLD is so rare some doctors have never even heard of it. And oftentimes it’s the other MLD parents who I get the best information from. Because they have been there done that and know what works (and what doesn’t). The amount of information on the internet regarding Metachromatic Leukodystrophy is alarmingly small.

So in case there is another parent in my shoes looking for answers, I wanted to share another part of our journey. Today, Livvy had her first seizure. I say first because seizures can be common in MLD children and once they happen they are more likely to reoccur.

This morning when we went to get her out of bed, we found she had thrown up and was actively having a seizure. I rushed to get the Diazepam (Valium) and as our doctors instructed gave her 10mL to stop the seizure. It took anywhere from 15-30 minutes for it to stop. We got her all cleaned up, and stayed by her side talking to her until she was able to fall asleep.

In the meantime, I had also called Hospice of the Valley who had a nurse on their way (aptly named Angel) and called both of our mothers, who rushed over.

Hospice took her vitals, which were normal. Said we did all the right things and the nurse called the doctor to get his thoughts. He initially recommended Attivan but we had tried that with Livvy before simply for anxiety and she did not like it at all. Was very uncomfortable. So we asked to just remain on Diazepam, which they thought was fine.

While they were here we also called the girls’ neurologist Dr. Vinodh Narayanan. He got back to me after Hospice had left and recommended we first get an EEG to check activity before deciding on a plan. He also recommended a nasal spray form of Diazepam (which I can’t remember the name of now but will update the post once I get it). This comes in two bottles, each 5mg. Use one bottle in one nostril and if it doesn’t stop the seizure you use the other bottle. He recommended this since it can be more quick acting than administering Diazepam through her G-Tube.

After we got off the phone I also sent him a video of Livvy mid-seizure. It’s terrible to have to take a video of your child while they’re undergoing something so traumatic but it came in handy and was important for our doctor to fully understand what was happening and decide the best course of action.

From the video, he thought it looked like she was having an epileptic seizure; a complex partial type, rather than a grand mal convulsion. Based on that he recommended we start anti-seizure medication right away but still get the EEG done (which can be done here at home) and use Diazepam when they do occur.

The Hospice doctor suspected that her immune system may have been weakened by a viral infection which lowered her threshold for seizures. Given that we were all sick last week (not from Covid) and she threw up again later in the day we think he was right. We had hoped since it had been a week we had done enough to keep her clear of it but unfortunately not. And as is the case with MLD kiddos, anytime they get sick their disease progresses (another reason we have still been semi-quarantining and taking extra measures to keep the girls safe and healthy).

Since the seizure Livvy can no longer move her left arm or control facial movements. Things that would normally make her smile so big (like talking about her baby sister Keira) don’t get a reaction. And it almost seemed as if she realized she couldn’t do it and got sad and almost started crying. I told her it was OK and that sometimes after seizures we can’t move like we used to but it can come back. As I have now learned post-seizure paralysis can be temporary. So we will see how it goes in the days ahead and keep everyone updated.

Love from the Rileys. โค

Livvy resting after her seizure.

Saving Jana

Every time I hear about another family with a newly diagnosed child with MLD I feel nauseous. The same feeling I felt for literally months after receiving Livvy and Keira’s diagnoses. And this week I learned about Jana Tourjee, a 6-year old vivacious little girl from New Jersey who was diagnosed with the juvenile form of MLD, who was promptly approved to receive treatment with gene therapy in Minnesota and then just as promptly denied coverage by their insurance – Aetna.

6-year old Jana Tourjee

If only it was Blue Cross Blue Shield who has now covered two cases for gene therapy, our Keira and sweet Celia Grace

While we have a team of supporters in the MLD community fighting for Jana behind the scenes, she needs everyone’s help. In one week, they need to raise $300,000.

The Tourjee family is now in a literal race against time, just as we were last year to save Keira.

Were Jana not to receive treatment, this very rare genetic brain disease would begin to destroy the protective fatty layer (myelin sheath) surrounding the nerves in the central nervous system and then aggressively take away motor function and other abilities. She would then potentially pass at 12-14 years of age, the average life span for children with the early juvenile form of MLD.

To help the Tourjee family save Jana, please donate at their GoFundMe page here: https://gofund.me/f2a831d3.

And, should you have a contact within the executive team at Aetna. Please contact them. Share this story. Share our story. Gene therapy should be covered by all insurance companies. The up front $300,000 would literally save them millions should they leave this disease untreated.

For more information on MLD, visit CureMLD.com or MLDFoundation.org.

The Tourjee family.

11/24/2021 UPDATE: I just heard from Jana’s Mom, Jen Tourjee, and Aetna just APPROVED the treatment!! We have goosebumps over here and hope this ripple effect from Blue Cross Blue Shield will lead to a quick FDA approval and the opportunity of a long life for so many more children!

Goodbye Sherlock

Saying goodbye to someone we love is never easy. Whether it’s expected, in the case of a terminal illness like MLD, or unexpected, as was the case with our dear 7-year old French bulldog Sherlock this past week.

After a week and a half of on/off appetite, throwing up and being generally lethargic some days, we headed to the vet. Surely, it had to be something weird he ate that was stuck in stomach because he would eat everything in sight! After his xray came back all clear we took him home and changed his diet to chicken and rice. Should his symptoms continue then we were to head back for bloodwork.

That evening Dave’s Mom took Eva (our oldest) for the night and thankfully she did because in the morning we found Sherlock had passed away in his sleep (and Eva was normally the first awake and would always get the dogs). We’re not sure whether it was cancer or maybe heart failure but either way it was crushing nonetheless.

While it was the hardest on us and Eva, I hope that having this close, and unexpected, experience with loss will help her when it comes time for Livvy to leave us as well.

I broke out sobbing in front of Livvy that morning and she actually laughed at me, thinking I was just making a funny noise to be silly. But I made sure to talk to her about Sherlock being in heaven and how we will get to play with him again when we go there. That prompted a really big smile (this isn’t the first time we have had a private conversation with her about heaven).

I assumed Keira would be mainly oblivious and possibly ask where he was. When she didn’t, I explained to her that Sherlock went bye bye to heaven and showed her the adorable paw print and picture frame that was given to us by All About Restful Pets (more on them in a second). Hours later she remembered the paw print and picture, looked at it and said “Bye bye Sherlock”. It took everything I had not to tear up right then and there.

But back to All About Restful Pets. They are who my mother called for me that morning when I told her the news sobbing. It is a company owned by her friend Bonnie which goes to people’s homes to put pets down peacefully and/or take them away for the family to be cremated (or whatever their wishes may be). She showed up at our house within the HOUR! And this was during morning rush hour in the fifth largest city in the nation. I was beyond grateful to have her there and help us through this process. For anyone in the greater Phoenix area, I highly recommend them.

Sherlock is greatly missed, and we can tell Watson misses him too (even though he is generally just a grumpy old man) so we have been giving him extra love and cuddles.

Rest peacefully little Sherlock! We love you!

Happy 1st Re-Birthday Keira!

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. โค๐Ÿค๐Ÿ’š

Here is a flashback to one year ago today at Ospedale San Raffaele:

Keira’s 1-Year Post Gene Therapy Check Up

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! โค

Being Apart

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. ๐Ÿ’œ๐Ÿ’œ

When Kindness & Compassion Make History

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) –ย  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.