Blog
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
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.
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.
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
My heart shattered
Foundation to Fight H-ABC has been the guiding light that showed up right when I needed it the most. My name is Miesha and I’m a single mother battling an autoimmune disease called ankylosing spondylitis alone with my son Tilyn Sincere. He was born healthy and grew into this bright bundle of happiness. As early as one, he started showing signs that something wasn’t right. We went through years of doctors guessing treatment options or assuming he would grow out of delays and begin thriving like most children do. In the beginning of 2024 we finally were told he had a number of things going on. He was diagnosed with clonus, autism, and cerebral palsy which is a crushing blow to say the least. We had already been in therapy prior to the diagnoses but I kept seeing a decline as the months went on.
July 17th 2024 was the day that changed everything. I had found a new neurologist and hoped that she could explain what was going on to make my life a little easier. My answer was a rare condition called hypomyelinating leukodystrophy disorder that often can be fatal, but it will cause his brain and body to slowly lose communication, thus impairing his body to operate as it should. My heart shattered in an instance, what mother can bear being told that your child will live as long as his body will allow, there is no cure, and we will only be able to manage his quality of life. I FREAKED OUT there was nothing I could do to stop it and I had no one to help me navigate what was to come.
Struggling to grasp this new reality I went looking for answers and I found the Foundation to Fight H-ABC. I found my lighthouse; they provided me with mental comfort, emotional support, and resources to navigate these rough waters. Everything is still brand new but with this foundation we have been able to see the steps to start this journey. Tilyn is already on a path others waited years to be on and it was all possible with the support of this foundation. With rough seas ahead of us, Tilyn and I won't have to navigate this alone with our new family of H-ABC fighters
It is unusual to meet a Tubb4a patient who is so articulate! Killian does a fantastic job of telling us more about his leukodystrophy on Utube, and what better timing than during September Leukodystrophy Awareness Month! Thank you Killian, you are an amazing young man!
H-abc/Tubb4a is one of many leukodystrophies. Leukodystrophy describes a group of more than 50 inherited neurological disorders. These diseases affect myelin, the protective covering on nerve cells in the brain and spine. Leukodystrophies cause a progressive loss of neurological function in infants, children and sometimes adults. Leukodystrophies affect about 1 in 7,000 live births. As we progress through the month of September we will provide more details on H-abc and leukodystrophies and what they mean for our families waiting for a cure. If you wish to donate to our efforts to help families and find a cure, use the QR code in the image!
May 2 is now the official National Tubb4a Awareness Day! Thanks to Sarah Marta, one of our patient moms who pursued the appropriate approvals. This day was chosen as it represents the first official day that the tubb4a mutuation was announced as the cause of the condition!
Very excited to announce the first individualized clinical trial for Tubb4a! This is an interventional study to evaluate the safety and efficacy of treatment with an individualized antisense oligonucleotide (ASO) treatment in a single pediatric participant with a de novo pathogenic gain of function TUBB4A mutation associated with severe leukodystrophy with hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC. This is great news for our community, and we pray it will be successful
We are very pleased to announce the addition of Dr. Wendy Chung as a scientific advisor to the Foundation. Dr. Chung is a clinical and molecular geneticist and the Chief of the Department of Pediatrics at Boston Children’s Hospital and Harvard Medical School. Dr. Chung directs NIH funded research programs in human genetics and is a national leader in the ethical, legal, and social implications of genomics. She was the recipient of the Rare Impact Award from the National Organization of Rare Disorders, and is a member of the National Academy of Medicine and the American Academy of Physicians. Dr. Chung received her B.A. in biochemistry from Cornell University, her M.D. from Cornell University Medical College, and her Ph.D. from The Rockefeller University in genetics.
