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. 💜💜

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) –  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 recieve 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.

When Tragedy Results in Research

One part of our story that some people don’t know is that Dave and I both got genetic testing done prior to having kids. Not because we knew of any issues in either of our family; simply because my doctor was offering it and we figured why not? Better safe than sorry. 100+ rare diseases were on that test, including MLD. So you can imagine our surprise upon the girls’ diagnosis because MLD had come back as NEGATIVE for both of us!

How could this happen, you ask? You bet we inquired after looking back at those tests.

After sharing this information with our daughters’ neurologist – Dr. Vinodh Narayanan, founder of Arizona Pediatric Neurology & Neurogenetics Association – he helped us look into the reasoning:

Apparently, the company who ran the tests, called Counsyl, only tested for the 5 most prevalent gene mutations that resulted in MLD. Of course, the mutations we both have are more rare.

The chances of us meeting and having kids with MLD? Literally 1 in a million.

While there was nothing we could have done differently to change this outcome, Dr. Narayanan was inspired by our family’s story and wanted to do something to help others avoid this occurrence.

Within the year, he had written a proposal based on our family which is aimed at determining the use of Whole Genome Sequencing as a tool for pre-conception genetic testing in couples. With the idea being that preventing recessive diseases (like SMA, or MLD) would be better for families and society, rather than diagnosing after birth (either by newborn screening or after symptoms appear) and even gene therapy (which can have a price tag in the millions).

Not long thereafter, his projected was given the green light by the Flinn Foundation.

It’s goals:

  1. Develop an “analytical tool kit” with which to analyze WGS data from couples – to identify risk alleles (variants) that could potentially cause autosomal recessive or X-linked recessive disease.
  2. Figure out what are ethical and moral issues that have to be tackled
  3. Develop a program for counseling couples based on such WGS data.

I was tearing up when Dr. Narayanan told me during a recent visit that “I am confident that within the next couple of years, WGS (whole genome sequencing) and appropriate analytical tools will be available to couples who are planning their own families.”

To know that soon any couple within the US will be able to get a comprehensive genetic test that fully explores all potential gene mutations that cause diseases like MLD is absolutely amazing.

No child should have to suffer from a disease like this and no parent should ever have to lose a child from it. While I know there is some research happening for a cure for those who are symptomatic, it is such a relief to know that we will soon be able to prevent a disease like this entirely.

We are forever grateful to Dr. Narayanan and his dedication to families like ours. Truly one of our guardian angels on earth! ❤

Keira visiting with Dr. Narayanan this week.

Loss of Timeline

When you become a parent it’s almost automatic to write down the dates of your children’s milestones. Rolling, sitting, walking, talking, running, etc. But when they have a terminal illness like MLD, you begin to avoid those dates because it generally means loss of milestones.

Looking back at my notes, I did not put a date, or even a month, next to when Olivia stopped talking. Stopped walking. Stopped sitting up on her own. Or lost control of her legs entirely.

But I did recently write down a month for when she stopped being able to eat and drink on her own. It was this month, July 2021.

We had been working for weeks to keep her eating orally as much as possible and drinking from the one sippy cup that she could actually sip from. But there was no denying this was something she could no longer do.

Sometimes she could barely open her mouth to put food in it. Things that she could normally get down no longer worked and would cause her to choke. Even water in her sippy cup didn’t work. We thought of thickening it as some MLD families do but she simply could not use the cup to make a sipping/sucking motion at all.

She is now 100% fed through her GTube. She gets Kate Farms formula for nutrition, water and her meds all through the tube. However, we do give her small amounts of water and juice in her mouth through a syringe so she has something to enjoy and keep her mouth from getting dry.

This recent loss of development was one of the many reasons we also decided she would not be starting school this week.

On top of the eating/drinking issues she has become more lethargic and is experiencing more pain. This has required higher doses of Gabapentin and THC 3x per day. Sometimes we even have to use Valium when those don’t do the trick.

She also usually only wants me for comfort. Dad, Grandma’s and her nanny Sheena will work here and there but more often than not, it’s Mom she wants.

So as we continue to keep her comfortable amidst her decline we chose to not send her into a new environment potentially filled with germs and people she doesn’t know but to keep her home where she is most comfortable and we can spend the most time with her for as long as we have her.

A Sigh of Relief

After about 6 weeks from returning from Keira’s check up in Italy, we finally got the results of the very last test we were waiting on – the main test we went there for because it cannot be done in US labs – to see if her body was still creating antibodies to the ARSA enzyme it now creates.

While we were hoping for a result of zero antibodies, she did still have some remaining BUT it was less than before and because of her development going so well the doctors in Italy are not concerned. We are SO relieved.

They’ll want to do this test again at her next check up in October (which will be one year post-gene therapy) but depending on covid travel restrictions liting up we may be able to do this from home if we can get her blood samples sent to Italy from Arizona within 24 hours.

In the meantime, we will have our fingers crossed that Keira continues to do well and that the antibodies disappear entirely.

Her first trip to an American grocery store. She loved naming all of her favorites (bananas, apples, peaches, oranges, berries)

Advocating for Your Special Needs Child

Rod Paige (the 7th United States Secretary of Education) once said “There is no more powerful advocate than a parent armed with information and options.”

Now, as a special needs parent, I fully understand the truth in this quote.

Yes, every parent must know that part of their job is advocating for their child. It’s common sense, right? We all want what is best for them.

But, prior to January 2020, when I was just your average Mom with normally developing kids, there really wasn’t a need for me to advocate for them. We of course would research the best schools, pediatricians and other options out there but that was every day stuff that parents do.

In the past month alone I have done more advocating for Livvy than ever before.

Getting anything you need or want for your special needs child is a MAJOR task. And don’t expect for companies or vendors you work with to follow up with you. None of them will. It has been our job to do all of the follow up to ensure she is getting everything she needs when she needs it.

For example…

I have had to text our pediatrician requests on 8 separate occasions.

I have had to call a new pump company we are transferring to for Livvy’s GTube supplies 10+ times.

We have had 3 meetings to trial eye gaze devices, with a follow up meeting to come, before we decide on one and then wait weeks to months to receive it.

I have had to speak with our neurologist about medications twice.

I have had to schedule PT, OT and feeding therapy appointments.

I have had to personally email prescriptions and referrals from doctors to vendors because their fax number isn’t working or they gave me the wrong one. Side note: can we please stop using fax machines?!?!

The list goes on. Keeping Livvy as stable as possible is a full-time job. Especially as her disease progresses and her needs (medically and for physical comfort and mobility) change.

To any parents who are new to the special needs run around, know that you are not alone. The frustrating back and forth and hoops to jump through is (unfortunately) normal. It is up to YOU to make sure your child is getting what they need.

Support systems through DDD and the like offer some wonderful assistance but it still requires work on the part of the parent to get the ball rolling when it comes to getting any kind of device or specialized care.

Be your child’s voice. Be their strong arm. Go with your gut. You do know best.

Livvy’s Wish Came True

Today, thanks to the wonderful souls over at Make A Wish Arizona, Livvy’s wish came true – after only requesting it a few short weeks ago – and she was so happy!

If you saw my previous post, you know it was a swing set for her to enjoy with her sisters. And while parts of it (like the sandbox) still need to be added in, the whole thing is up and was revealed to the girls today – they were ecstatic!

Every time we talked to Livvy about it prior she would get a big grin on her face so I think when she saw it today she was partially in awe; it’s actually here!

And for a girl who normally hates laying down (she will usually just start screaming) she is on Cloud 9 in her magic carpet swing!

To know that she and her sisters will have so many more memories made together with this swing set brings me to tears.

Thank you so so much, Make A Wish Arizona!! ❤🙏🏼

Results from Keira’s 6-Month Post GT Check Up

On May 11th, Dave, his Mom, Eva and Keira returned from a two week trip to Milan, Italy for Keira’s six month check up after the gene therapy she received in October 2020. I stayed home with Livvy since the travel, time changes, etc. would have been too hard on her. And let me tell you those two weeks felt like two months.

While Livvy did seem to regress a bit while they were away, I’m very happy to report that all of Keira’s tests went so well! It’s a bittersweet balance with these two. As one regresses the other progresses. It is truly a miracle that Livvy was able to be Keira’s guardian angel and we got her diagnosis in time to get Keira treated.

Tuckered out after a day of testing on our recent trip to Milan for her 6-month check up.

And what a treatment it was! We will forever be grateful to the team at Ospedale San Raffaele in Milan for their hard work, dedication, compassion and kindness.

Keira went through quite a few tests in the two weeks they were there (see my previous post for a list) and everything is, so far, coming back within normal range!

The doctors said that based on her current development they would put her in the same realm as the children who have had the best results thus far! These children are now 5, 6, 8, and 10 (at the oldest) and are living completely normal lives – walking, talking, playing sports, going to school! Things Livvy will never get a chance to do but because of gene therapy Keira will! I can’t even put into words the relief we felt.

While we are still waiting on one major test – which will show whether her body is still creating antibodies to the ARSA enzyme it now creates (and never used to) – we are so pleased, to say the least, and so hopeful for her continued development.

She is saying two and three-word phrases now, copying everything we say, picking up on things so quickly, walking so much better, and at 16 months old is already showing interest in potty training (which our speech language pathologist was blown away by). It truly warms my heart to know we have years and years ahead of her where she will be doing more and more each day. Yet at the same time breaks my heart to know it was all taken away from Livvy. As always, bittersweet. But every day and every smile with our girls means the world.

For Those Extra Special Moms

To the mom who didn’t get “just a healthy one”:

A healthy baby .
That’s what you want.

Boy or girl? Doesn’t matter.
Just a healthy one.

With ten perfect fingers and ten perfect toes.
A tiny smile and button noes.

A brain that works as mine and yours.
Tests coming back with perfect scores.

A heart that beats strong—the rhythm of drums.
And the in and out breath of healthy lungs.

But then you find out it won’t be so.
An unhealthy child— so much unknown.

A journey full of winding roads.
Ups and downs. Such highs and lows.

A little one fighting for their life—
And you, strong beside them in perfect stride.

Just pushing them forward with all that you are— a mother who hasn’t backed down thus far.

This motherhood it will indeed be hard.
The heartbreak will leave inevitable scars.

Not a motherhood you had ever planned for—
But it won’t be less. It will be more.

More love needed and more to give.
An understanding compassion that is so so big.

More strength than you had ever known.
A faith in God and Him alone.

You’ll learn to hope beyond all reason.
And lay down burdens in every season.

You’ll fight and give up and fight some more.
You won’t be stopped by seemingly closed doors.

You’ll give more than you knew you could.
And though you’ll grow weary you’ll still see the good.

Yes this child— unhealthy as they may be.
This child has allowed you so much to see.

Joy and beauty.
Pain and sorrow.
A gratitude for every single tomorrow.

This child is adored— a gift from above.
A newfound passion full of motherhood love.

So this is to the mother of an unhealthy child.
Who holds up her head, moves forward and smiles.

Your motherhood was not the way that you planned.
But today you love more— and stronger you stand.

I’m not sure who wrote this but it was shared with me by another MLD Mom. And it is so true. To all my other extra special Moms, a very Happy Mother’s Day to you!

Focusing on the Smiles

I don’t like posting about the hard days. They are hard enough as it is. Why rehash it for everyone else?

What I like to see on social media is the GOOD. There is enough bad in the world and on the news every day. And while we have been dealt plenty of bad in life, there are ALWAYS good moments and that is what I like to share. The positivity. The smiles. The laughs. It’s what keeps us all going each day.

In the nearly 48 hours since Dave and the girls have been gone I can’t even tell you the amount of times Livvy has cried. Sometimes it’s pain related or because she has food stuck on the roof of her mouth or because she needs to burp but mainly it was because I needed to get something done so she had to be held or strolled around by someone else. The moment she’s back in my arms? It’s this 👇🏼

Will it be a long two weeks if she only wants to be held by me and cry with everyone else? Yes!

But I have to always remember these moments. The smiles, and the laughs and the fact that we have no idea how much time we have left with this sweet girl. Every day counts. Every moment counts. Every smile counts.