Minnesota

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!

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 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.