Breaking Stigma, Finding Answers

Payal Patel, a mother, rare disease advocate and founder of a foundation dedicated to DLG4 SHINE, an ultra-rare genetic disorder affecting her daughter, Raina. Payal shares the journey of raising a child with a rare genetic condition, from recognising that something was different and pushing for answers, to navigating years of uncertainty before receiving a diagnosis. She reflects on the importance of genetic testing, the challenges of advocating within healthcare systems, and why parents should not be afraid to ask questions and seek answers. We also explore the intersection of rare disease and South Asian culture, including stigma surrounding disability, mental health, neurodevelopmental conditions and genetic diagnoses. Payal discusses how her family supported her throughout the journey, while also opening up about the realities of raising a child with a rare disease alongside a neurotypical sibling. Most importantly, Payal reminds us that a diagnosis does not define a person or take away from the joy they bring. Through Raina and the wider DLG4 SHINE community, she shares a message about individuality, hope, advocacy and finding the “shiny” moments within a rare disease journey.