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.

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)

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.

Our 1st Return Trip to Italy

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! ❤🙏🏼

Books to Read: Harnessing Grief

I have never met author Maria Kefalas in person. Yet she helped to save our daughter Keira’s life. Within 24 hours of receiving Keira’s diagnosis on June 19, 2020, Maria informed us we had a chance to save her life with gene therapy, connected me with the team of doctors in Italy and sent us a $2,000 check to kick off our fundraising to get there. I will forever be grateful to her and the work she does through CureMLD.com and the Calliope Joy Foundation (named in her daughter’s honor).

That’s why for the first time in well over a year, I took what little spare time I had to (slowly but surely) read a book. Her book, Harnessing Grief: A Mother’s Quest for Meaning and Miracles.

Of course, I could identify with much of what her story entails as one of her daughters also has MLD. But I had no idea how instrumental she and her family truly were in developing so much research, attention and care for those within the MLD community. I cried, I laughed and was even surprised at some of the likenesses between our lives.

It’s nearly impossible to make sense of your life once your child is diagnosed with a terminal illness for which there is no cure. What is the meaning of this? Of life? And why would such a darling, innocent soul be faced with such a death sentence?

“Sometimes I wondered if I was supposed to have Cal in my life to learn a different way of looking at the world, to see the perfection of her divine love, gifts that do not require words and which must be condensed into such a short life…The fact that she [Cal] is so joyful despite this terrible disease was in so small part because Pat and I were her parents, he believed, and we shouldn’t underestimate how much our love saved her.”

I agree completely with Maria and Pat’s assessment to make sense of all this, and feel the same way about our Livvy. She is smiling more in the past week alone than she ever has before. How could so much joy be radiating from a child with her fate? Because despite the pain and suffering she is truly happy; she has us. 

Another hard thing for parents to do when it comes to this disease is consider what terrible fate the future holds for their child and looking back at all they could accomplish just a year, a month, or even a week ago. This disease strips them of their abilities that quickly.

“In the week’s after Cal’s diagnosis I realized how dangerous these visits to the past can be. You can lose yourself in the grief over what’s been lost…The same thing can be said about contemplating the future; you can become immobilized with fear if you dwell too much on the ending of your child’s story. Living with Cal called us to live with no sense of the past and no thought to the future. Even as the disease stole more and more from her, we had to train ourselves to be grateful for what was possible each day.”

For us, it’s Livvy’s smile and her laugh. If we see those even just once a day it’s a win. Looking back at the memories thrown at us via Facebook feels like a punch in the gut. It’s devastatingly sad to think about the future that was stolen from her by this horrible disease.

So how do you take this fear of your child’s future, your future, and turn it into something positive? Cal (short for Calliope) taught Maria just that:

“Cal has taught me that when the worst possible thing happens, you have nothing left to fear…She has taught me that when you have tamed your fear, you harness its power to do extraordinary things. “

And the work Maria and her family have done to help others inflicted with their same pain, and grief, is nothing short of extraordinary.

You can buy Harnessing Grief on Amazon for $19.99. 100% of the proceeds go to the Calliope Joy Foundation in order to help other families like ours.

Maria – we thank you from the bottom of our hearts. You are an angel to the MLD community and we are forever grateful.

One Less Thing to Worry About

Not long after we found out Keira also had MLD (on June 19, 2020 – a day forever burnt in my memory), we had her 6 month well check with the pediatrician. She pointed out that Keira had an extra fat roll on one of her legs which can be a sign of her hips being misaligned but that it could very well be nothing. She asked if we wanted to get x-rays done that week and my brain exploded.

I called my Mom after the check up telling her what happened. It was hard to breathe and my mind was racing. There was no way I could handle more bad news and we were going to wait a week or two to think it over.

In that time, we ended up speaking with the team in Italy and moving forward in fundraising to get her to Milan for treatment. The potential hip issue disappeared from my mind from that point forward. Until…we just had her in for another check up and the roll was still there.

Our pediatrician said we would still have a window to fix it if something was wrong so we went ahead with the x-rays. We got the results that same day but that small window of waiting had me so worried. There is no way our baby can have one more thing wrong with her after all she has been through.

Thankfully, the results were negative! Her hips are perfect and we have nothing to worry about! The relief I felt (about her extra fat roll no less 😆) was amazing. I think I actually laughed out loud reading the text. Some actual good news! Amazing. 🙌🏼❤🙏🏼

The Push & Pull (and Kick) of Co-Sleeping

Let me start this by saying we have never been co-sleepers with our children. Until…we (briefly) were.

What I’m about to share will probably sound crazy to most parents, but I actually miss having Keira (who is now 14 months old) in our bed.

It wasn’t until November 2020 that I first allowed this to happen. She had just spent half of her life in Italy undergoing countless doctors visits, surgeries, chemotherapy and gene therapy in order to hopefully live a full and normal life free of MLD, the disease that will most likely take the life of her middle sister in a matter of years (Olivia is the true hero of our family story).

She was finally out of isolation at the hospital and back in our apartment in Milan when she woke up in the middle of the night and every time I would lay her back down in her crib, she would wake up and start crying. So in our bed she went. Dave and I were both exhausted and I knew she was too. And wouldn’t you know she went right to sleep?! It worked. So why not do it again the next night?? Because that was easy and it will buy us more sleep…right?!

She would lay at a 90 degree angle to me, laying her head on my chest and sleep. Pay no attention to the fact that her feet would be in Dad’s face, kicking him periodically. I’m only paying attention to my side of the equation. The snuggles. I’m soaking in the memory of those precious snuggles.

Keira’s life has essentially been traumatizing for the majority of her time here on earth. We never know how much time any of us have here, but in our family we now know firsthand why it’s important to make the most of each moment. And whether it puts a kink in my neck or leaves me exhausted the next day, I still miss those nights with Keira because I know they are the last.

3 Months Post Gene Therapy

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.

41 Days to Freedom

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! ❤❤❤❤❤