The Yaya Foundation for 4H Leukodystrophy
Going to great lengths to support rare disease patients and families
To a parent who has just received a diagnosis: You have a hard road in front of you. Be the best parent you can be, be there for your child, and be kind to yourself. This is probably not a road you would ever choose, but be open to the fulfillment and inspiration that being there for your child and your family can provide.
Ron Garber, co-founder of The Yaya Foundation for 4H Leukodystrophy, offers these wise words to patients and families affected by rare disease. His daughter Yaya was diagnosed with 4H Leukodystrophy and faced incomprehensible challenges as a result of the disease. 4H Leukodystrophy took Yaya from the Cheng/Garber family just weeks after they celebrated her first birthday. The foundation was born out of a meeting with the only two other families in the U.S. engaged in 4H Leukodystrophy-specific fundraising. Together, they shared a vision of what they could accomplish if they combined efforts rather than continued to work alone.
Most individuals with 4H Leukodystrophy develop normally in the first months of life. After meeting early developmental milestones, concerns most often emerge around the time of walking (ambulation) with atypical or delayed eruption of baby teeth. Children may remain very unsteady or never learn to walk without support. Their symptoms tend to get progressively worse over time, resulting in severe motor problems, ataxia (impaired balance and coordination) and loss of the ability to walk, as well as difficulties swallowing, which leads to challenges with eating and breathing. There is not yet a known treatment or cure.
Ron understands this disease involves challenging scientific problems, and their community of patients, researchers, and donors is small and overburdened. He believes they must grow their community and pool of resources and develop mechanics for most effectively leveraging limited resources to unlock a cure. The Yaya Foundation hopes the Rare As One Network will help accelerate its efforts to build a platform that will enable the organization to identify the highest impact research to fund and get the findings to the right people across the globe who can most quickly and effectively build upon it.
Research Progress & Capacity Building Updates
Since joining the Rare As One Network, the Yaya Foundation recruited a talented executive leadership team and added to its board and volunteers. The Foundation also convened a research community for a scientific working meeting, developed version 1.0 of a 4H research strategy and funded the first key project, an exciting gene therapy proof of concept. We’ve also launched a patient registry, hosted several scientific seminars, and developed and released a suite of educational resources for affected families. The Foundation is currently planning a first-ever 4H Family & Scientific Conference for 2022.
“Be open to the fulfillment and inspiration that being there for your child and your family can provide.”