The Avery Project

01/12/2025

As a parent to a nano-rare disease child, I've learned that grief and hope are often intertwined, once causing emotional whiplash, but over time becoming a familiar dance.

Grief took the lead following the loss of Avery Davis, the beautiful soul who was the second patient identified to share our Avery's nano-rare genetic condition, but we held fast to the belief that the girls' contributions to defining this disease would bring comfort to families seeking diagnoses in the future, and treatments and cures to our community.

Earlier this month, hope again stood center stage, as we experienced what we truly believe to be a God Wink that we are never alone in this journey. A simple chime alerting us to a Facebook message; a name we didn't recognize, introducing herself to us as Mom to Felix, a 14 year-old, redheaded boy whose genetic testing from 11 years ago was miraculously recently updated. They had received a letter from their genetics team that included our team's publication in the neurology journal BRAIN, the first research paper published about the variant. They were told their son had the same variant as the girls in the paper - he is Patient 4. Sarah, Felix's mother, had then searched the gene , found us, and reached out!

We are excited to have Felix and his family join our tiny community. We are grateful to everyone who took a leap of faith on what we were trying to do with The Avery Project and donated to enable the research needed to define and treat this disease. You are changing lives and enabling families who have waited over a decade for a diagnosis to finally have clarity and our SPG90A community is forever grateful.

04/11/2025

Happy 1st Heavenly Birthday Sweet Girl 💕

08/10/2025

Today, our hearts are heavy beyond words.

We are mourning the loss of 14-year-old Avery Davis. One of "The Averys" who made The Avery Project what it is. A bright, brave soul who was one of only three children in the world living with an incredibly rare disease. Avery was more than a diagnosis - she was laughter and light, courage and creativity, strength and softness.

This loss cuts deep in ways that are hard to describe. In our small, tightly woven community, these girls each became a part of our respective families, each child a part of our own hearts. We follow each other’s journeys, celebrate every hard-won milestone, and grieve every setback together. And when one of our own is taken far too soon, we all feel it.

Avery's passing echoes through the entire rare disease community. She was a beacon of resilience, a symbol of hope, and a reminder of why we keep advocating, researching, learning. Her life mattered; her story matters. Her legacy will continue to inspire others in the work we do and the love we share.

To Avery’s family: we are holding you in our hearts. Your daughter’s light will never be forgotten. She and you have changed our lives. She showed the world what it means to fight with grace, to love without limits, and to live every moment with purpose.

Rest peacefully, sweet Avery. You were truly one of a kind. 🕊️💜

03/10/2025

27/08/2025

1st day of 2nd grade for this amazing little girl! So excited for her! She zipped off after 3 hugs from family to join the crowds and friends 💕💕

26/02/2023

Just in time for Rare Disease Day! The first manuscript about the Averys’ genetic variant has been published! Link in Bio!

We don’t often talk about the research that The Avery Project funds support, but today we are so excited to announce this huge accomplishment and grateful to everyone who contributed to the immense effort over the past 3 years.

It’s no small feat, getting research published in a journal like BRAIN and we are so proud of what the team has accomplished!

We know this is the first of many huge wins as we move forward from understanding the variant, associating it with disease, and identifying treatment. While the girls are n-2 right now, this paper represents a pivotal moment in the future of a rare disease by likely leading to increased diagnosis, growth of our patient population, and more rapid approval of a treatment.

It’s hard to believe that just about four years ago we were sitting across from our geneticist being told Avery was the only one known to have her genetic variant and that there was no research to explain what it was doing to her body. We left knowing that we had to DO something. Six months later we had established The Avery Project through MGH and 3 years and a global pandemic later the team has not only published their research in one of the world’s top neurology journals, but they are rapidly developing gene therapy treatment. We can’t wait to see what comes next, but until then - we are celebrating this incredible accomplishment and hoping that we find more patients out there with a variant affecting their SPTSSA Gene!

14/01/2023

It was 7:30am on a school morning and they wanted to go play in the snow. I said yes and got Avery in her snow suit and didn’t worry about whether their hair was brushed or back packs packed and sent them outside to play in the tiny amount of snow.

Charlie shoveled the minimum amount of snow that was there so Avery could have a snow pile to play with. 💕 they even made a snowman! Though … short lived…😂

27/11/2022

Nature Art because dirt is good for the soul! And our new silver fox ornament gets a home!

12/11/2022

Hope to encounter these one day! What an amazing alternative to the hiking back pack which Avery hates and is very hard on the wearer as she gets bigger. Thanks to everyone who imagines solutions to greater access!

03/11/2022

Was wondering why I felt a little overwhelmed when it came to anyone asking if I was free to go on a walk, or volunteer at the kids school, or meet up for a play date and so I looked at the calendar and realized that our happy nugget has a whopping 39 appointments remaining before the year is up.

It’s a lot when she’s still going to school, Charlie still has his appts and his own schedule, Trey and I are both working, and we try to make time for it all as well as our friends and eachother!

Thank goodness for helping us all along the way! It’s chaotic, and it’s a lot for Avery too. But its our life and I’m grateful for the amazing care team that surrounds Avery!

03/10/2022

Click image to see our newest Reel about Avery’s September Intensive Therapy! Caitlin Connolly Eppes

The Avery Project shared a post on Instagram: "Another intensive therapy down! This girl and her incredible team of therapists worked so hard over the past 60 hours! Neurosuit, Astronaut Trainjng, and Dynamic Movement Intervention along with Speech Therapy and lots of laughs! Thank you for helping A...

20/09/2022

It’s Growth Awareness Week! Sharing our experience with Avery’s GHD diagnosis.