In July, NBC News featured a powerful story on H-ABC/TUBB4A leukodystrophy, highlighting the challenges faced by affected families and the urgent need for research. This national coverage brings much-needed awareness and shines a light on the hope and resilience within the community.

We attended the ULF Annual Family Conference and it was an incredible experience. We connected with leading experts, learned about the latest research and treatments, and heard from advocacy groups sharing important updates. The conference provided practical tools and support, along with a strong sense of community that reminded us we’re not alone in this fight.

Watch the N-Lorem podcast and learn about the first child's journey finding and receiving a treatment for the Tubb4a gene mutation using an ASO developed by N-Lorem.

👉 Link to n-lorem

On February 27-29, 2025, we joined a very productive three day conference at the Children's Hospital of Philadelphia. Key advocacy groups, scientists, researchers and biotechs came together from across the globe, to discuss various leukodystrophies.

Here we are featured with Dan Williams of Synaptix Bio and Dr. Adeline Vanderver who is the lead clinician at CHOP tied to H-abc/Tubb4a.

See link to the event, the H-abc/Tubb4a session starts right around hour 6.

https://m.youtube.com/watch?v=whPJJkBujK4&t=21218s&pp=2AHipQGQAgE%3D

A day, actually an entire week dedicated to raising awareness around rare disease on the Hill. We joined approximately 1000 advocates from across 50 states who descended upon Congress and the Senate making our case for the following:

• Bringing public and congressional awareness to the unique needs of rare diseases

• Addressing the challenges due to the few affected within each disease and delays in getting diagnosis

• Extending the Priority Review Voucher (PRV) and Accelerated Access Care Act

• Addressing the lack of specialty care, the fact patients have to travel outside of state, many of whom depend on Medicaid which won't allow coverage across state lines

• Delays in treatment and loss of life as a result

Camden is an 18 year old fun loving and energetic teenager who celebrates Christmas all year round and the magic, hope, and joy that comes with the season. He enjoys time with his family, Florida State football, touching trucks, listening to contemporary Christian music, and is somehow the President of his school's Good Choice Club.

LINK TO CAMDEN’S STORY

It's hard to believe we are now in our tenth year of advocating for those living with H-ABC/Tubb4a! We have made meaningful headway but the process is slow and complicated. Nevertheless, we continue to drive forward. Here is what we have been doing.

Link to Ten Year Anniversary