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Global Leukodystrophy Conference
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
Rare Disease Day 2025
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
Meet Camden!
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.
Camden was born full term with no complications but his family began to have concerns around 9 months old when he still had very poor balance and was unable to sit up. An MRI at 12 months confirmed damage to his cerebellum and a diagnosis of spastic quad Cerebral Palsy soon followed.
Camden spent his early childhood attending multiple therapy sessions with additional diagnoses of failure to thrive and eventually dysphagia. A G-tube was added at age 3 and his parents were stumped by the continual regression not normally associated with CP. Genetic testing was recommended but no matches were found. A wheelchair soon followed and then more therapies and uncertainty.
Fast forward to 2020 after encouragement from a wonderful specialist, genetic testing was once again attempted and this time a match, H-ABC. Relief followed that they finally had an answer but more uncertainty arose due to the rare nature of the disorder and lack of clinical treatment and answers.
Camden has remained brave and courageous through numerous hip and spinal surgeries and loves life as much today as he ever has, despite his ever growing challenges and obstacles. In fact, he had to undergo a redo of the spinal surgery and is doing well!
Camden may be non verbal but he communicates nothing but joy and happiness through his smile and personality. The future may be unknown but he and his family are surrounded by a wonderful group of families, friends, and specialists who will not give up until a treatment is found.
Ten Year Anniversary!
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.
- supported initial roll out of Tubb4a natural history study
- initiated sponsored research agreement for AAV gene therapy still in discovery
- database access to family support services nationwide
- ULF Ambassador partnership supporting families living with h-abc and other Leukodystrophies nationwide
- comprehensive bi-lingual website
- global support for newly diagnosed patients
- pending roll out of drug repurposing study
- raised up to $100,000 annually
- strong advocacy partnership with Industry leaders and other Leukodystrophy advocates
- family conferences and webinars
- unrelenting promotion and raising awareness with newsletter and media outreach
- supported first family treated for N-1 treatment who, now in the second quarter of treatment using an ASO, is doing well!
What a Groovy Fundraiser!
We are so excited to share that our fundraiser in February was an amazing hit! We raised approximately $50,000!! What an amazing accomplishment and we could not do it without the amazing talent of our fundraising team Bob and Mickie Ziarko, their family and friends, the amazing H-abc families who joined us on stage, and The Village people! Thank you everyone for your incredible support!
See link to the news media coverage! https://www.villages-news.com/2025/02/08/flower-powered-villagers-relive-the-memorable-days-of-woodstock/
Drug Repurposing
The Foundation to Fight H-abc is recruiting patients living with confirmed diagnosis of H-abc/Tubb4a related Leukodystrophy for a study for drug repurposing.
The process of drug repurposing uses AI to identify the most promising uses for a specific disease using existing drugs. Then, for our study, the top matches are tested against patient RNA to determine what is a viable candidate. Machine learning is very well-suited to identifying these patterns, which a researcher would not be able to at the same magnitude. Because generic, FDA-approved drugs have a known safety profile and are already manufactured and available worldwide, often with substantial data already existing to support the potential new use, drugs can go through an accelerated research process. These drugs can get to patients quickly, in months versus decades, at a low cost of less than 1% of new drug development.
Go to our Resource/Drug Repurposing page for more information and sign up for this study: https://www.h-abc.org/drug-repurposing
Synaptix Bio ASO clinical trial update
Synaptix Bio has shared updates on the trial status. Although nothing is ever set in stone, they hope to start the trial in the UK in late 2025/early 2026 followed by the US.
CHOP continues to refine their natural history study to assist with the trial. We ask patients to use this link to participate in the survey https://redcap.chop.edu/surveys/?s=7MHM9TYHK9
Sad News
This horrible condition has taken the lives of two of our affected children this year. The side effects of the condition compromise motility, body functions and other neurological functions. This is an insidious disease and we have no time. Please pray for the families and our children waiting for a cure.
Wishing Connor well!
In our blog in August we shared that there was a treatment available developed by Nlorem, and the first child was to be treated. Connor has now had three doses and doing well. Join us in supporting the family and helping with their costs as they pave the way for potential new treatment for others waiting.
Meet Ben - Living Joyfully with Purpose!
Ben Rosenberg, a vibrant 28-year-old with an unbreakable spirit, was diagnosed in the summer of 2024 with TUBB4a-related Leukodystrophy after a lifetime of uncertainty. This rare neurological condition affects his movement, speech, and balance, but Ben embraces life with a philosophy that inspires everyone around him: "Stay joyful and do the best you can with what you got."
Ben’s passions light up his world. He loves the color red, Spider-Man, and Dragon Ball Z—especially the character Goku, whose resilience and determination reflect Ben’s own inspiring journey. Comedy in all its forms brings him immense joy, from stand-up shows to funny movies and TV series.
During the COVID-19 pandemic, Ben faced reduced resources and limited support, prompting his older brother Ari and his wife Nancy to step in. Nancy, a respiratory therapist, and Ari, a dedicated advocate for Ben’s well-being, decided to move closer after spending a few years in New England. They offered to become Ben’s full-time caregivers, but Ben expressed his desire to gain more independence and take steps toward a life of greater autonomy while still benefiting from their unwavering support.
Ari and Nancy worked closely with Ben to create a caregiving regimen tailored to his unique needs, allowing him to thrive in his circumstances. They invested time learning the intricacies of caring for someone with specialized needs, ensuring Ben’s daily life is structured, fulfilling, and enriched with activities he loves.
Ben now thrives with this personalized approach, spending his time engaged in meaningful experiences. He accompanies Ari and Nancy to the gym, enjoying his role as their companion while people-watching. He also loves attending comedy shows, discovering new TV series, playing board games like Monopoly and The Game of Life, and sharing reading practice sessions with his dad every few days.
Ben’s innovative communication devices allow him to interact with audiences on Ari’s Twitch channel, where his infectious laughter and vibrant personality inspire viewers. Together, Ari and Nancy amplify Ben’s message of resilience and joy, raising awareness about leukodystrophy while encouraging others to embrace life with gratitude and determination.
Ben continues to receive specialized care from a leukodystrophy expert in Boston and local providers focused on his quality of life. With his family’s support and his determination to live joyfully, Ben proves every day that happiness is a choice. His love for his favorite heroes, especially Goku, and his unwavering positivity remind everyone he meets that, even in the face of adversity, life is good.
Ari, a filmmaker, incorporates Ben’s story into their creative work. The content they share on social media and Twitch streams not only spreads awareness and positivity but also contributes to a long-form documentary about Ben’s life. This documentary aims to celebrate Ben’s journey, resilience, and the power of family, inspiring countless others to find joy and strength in their own lives.
Check out Ben's instagram account: https://www.instagram.com/beaminbenny/
Ben, Ari and Nancy