A Mother’s Journey into Rare Disease Advocacy

Mukti, a mother, rare disease advocate, and co-founder of a community supporting families affected by ASH1L-related neurodevelopmental conditions. After her son was diagnosed with autism and later identified with an ASH1L gene mutation, Mukti began searching for answers in a world where so much about the condition remained unknown. What started as a small Facebook group has grown into a community of 44 families working together to share experiences, raise awareness, and contribute to research. Mukti shares the realities of navigating healthcare systems, having concerns dismissed, and advocating for her son when answers are difficult to find. She also reflects on motherhood, cultural expectations, the power of peer support, and why parents must be heard as partners in research and care. Her message to other parents is powerful: trust yourself, trust your child, and remember that every child develops at their own pace.