Birdie’s Story

A woman in a pink patterned hospital gown taking a selfie with a young child lying in a hospital bed. The child has a bandage and a medical device on their head, indicating they are in a hospital.
A young girl balancing on a wooden platform with her left leg raised, holding a wooden disk, assisted by a woman sitting on the floor in a classroom or activity room.
A young girl with blonde hair and blue eyes wearing a purple birthday hat with a tiara design, smiling and standing in a playroom with toys and furniture.

On April 1st, 2025, just three days after Birdie’s 2nd birthday, we received news that would change our lives forever. Birdie was diagnosed with a KDM5C-related disorder.  Birdie is challenged with growth and muscle development, a severe speech delay, gross and fine motor delays and some behavioral issues that are becoming more pronounced with time.  With her diagnosis there are a lot of unknowns about her future, and we do know that seizures, spasticity, pain and metabolic challenges can develop as time goes on.  Despite Birdie having to endure more challenges, doctor appointments and therapies (6+ hours a week) than any child should - she positively sparkles and radiates joy!

WHERE WE ARE TODAY

Today, there is no cure and there are no approved therapeutics for KDM5C. We have spent every day since her diagnosis researching everything we can and making contacts with some of the brightest minds in science and the good news is, there is HOPE for Birdie. This is where you come in! With the lack of grants, funding and pharmaceutical incentives for rare disease drug development, unfortunately the onus falls on families like ours to help their children and we simply do not have any time to wait.

THE PLAN 

We are partnering with N-Lorem (the world leaders in ASO gene therapy) to kick off a funded research program to support the research necessary to determine if there is a therapeutic ASO strategy for Birdie’s mutation in year one, and if successful, to support the development of a personalized ASO treatment that could neutralize the harmful effects of Birdie’s gene mutation and alter the trajectory of her life in year two. If all goes according to plan, Birdie will have her ASO therapy ready in 24 months. Our hope is that this important work will lead the way to helping Birdie and others with her diagnosis.

WHAT COMES NEXT

In Year 1, we are funding the scientists and lab work to validate the ASO strategy and advance the best therapeutic candidate to help Birdie for further testing. We are able to move forward through research phases when scientific project milestones are hit, and funding is secured.

On December 10th, Birdie underwent a skin biopsy procedure that the scientists will use to build the cell models needed for the project. We are also finalizing a partnership with a leading pediatric neurologist well versed in ASO trials to be our treatment physician on this journey.

We will keep Birdie’s Team posted with milestones and progress along the way - scientific, fundraising, community-driven or otherwise. Every dollar and every day gets us one step closer to our goal of treating Birdie with her ASO!

Check back for updates!

Watercolor painting of a unicorn with a pink mane and tail.
Watercolor illustration of a pink unicorn with a single horn and a rainbow-colored wing
Watercolor illustration of a pink and purple hummingbird in flight against a black background.
Watercolor painting of a pink and purple unicorn with a wing.