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.

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.