South Asian Women in Rare

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.

In this episode of South Asian Women in Rare, Neena shares her journey of living with Jansen's disease, an ultra-rare bone disease, and how her experiences led her to build a global community for others living with the condition.We talk about growing up with disability, South Asian culture and family, raising children with the same rare condition, navigating healthcare, and why patient voices are so important in shaping research and treatment. Neena also shares what it really means to be a “disease builder” when there is little existing knowledge, research or funding.A conversation about resilience, family, advocacy and creating change when you're starting with almost nothing.

When Sumaira was diagnosed with a rare disease called seronegative neuromyelitis optica spectrum disorder (NMOSD) at just 24 years old, her life changed overnight. Instead of accepting the unknown, she turned her experience into action by founding a global patient advocacy organisation that has transformed the lives of thousands of people living with rare diseases.In this episode of South Asian Women in Rare, Sumaira shares her journey through diagnosis, the power of authenticity, breaking cultural expectations, navigating healthcare as a patient, and why people with lived experience deserve a seat at every decision-making table. This is an inspiring conversation about resilience, leadership, and creating lasting change in the rare disease community.

Welcome to the first episode of South Asian Women in Rare. In this introductory episode, hosts Niveda and Parvathy share their personal journeys, the inspiration behind the podcast, and their vision for creating a space that amplifies the voices of South Asian women affected by rare diseases.Join us as we begin this journey of storytelling, advocacy, and community. In future episodes, we'll be speaking with patients, caregivers, advocates, healthcare professionals, and researchers from across the rare disease community.

Hi and Welcome to South Asian Women in Rare