Episodes

Episode 1 through 6 of 6 total episodes

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  A Mother’s Journey into Rare Disease Advocacy

  Ep. 5

  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.

  Guest: Mukti
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  Breaking Stigma, Finding Answers

  Ep. 4

  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.

  Guest: Payal
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  One Voice. Opening Doors for Rare

  Ep. 3

  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.

  Guest: Neena
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  From Rare Disease Patient to Global Advocate

  Ep. 2

  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.

  Guest: Sumaira
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  Introducing the hosts of South Asian Women in Rare

  Ep. 1

  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.

  Guest: Niveda and Parvathy
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  Trailer

  Ep. 0

  Hi and Welcome to South Asian Women in Rare

  Guest: South Asian Women in Rare