One in 80 Million: What Happens When Both Parents Carry the Same Rare Gene?

✨ This episode is sponsored by RevitaLash Cosmetics. Rosie has partnered with RevitaLash, the original lash conditioning brand, to bring you a special offer. Use code ROSIE20 for 20% off your order at revitalash.co.uk. Thank you to RevitaLash for supporting Everything Changed. ⸻ When Nicola Whitbread-Hastings became a mother, she expected the “typical” experience. Instead, she was thrust into a world of medical terminology, 24/7 care, and a diagnosis so rare there are only a few hundred cases worldwide. In this episode of Everything Changed, Nicola joins us to share the raw, unfiltered reality of raising her son, Rudy, who lives with MCAHS1, a genetic condition that causes epilepsy, visual impairment, and profound physical disability. In this episode we discuss: * The COVID diagnosis Navigating the terrifying first weeks of lockdown while realising something was wrong. * Finding out both she and her husband carried the same rare gene. * The survival instinct Why she had to emotionally detach from her second pregnancy to survive the weight of a potential second diagnosis. * Milestones vs inchstones The beautiful, small victories that mean everything. This is a story about resilience, the fight of a special-needs parent, and how the arrival of her second son, Dexter, helped their family rediscover laughter in the chaos. ⸻ Resources mentioned in this episode: Haven House Children’s Hospice: https://www.havenhouse.org.uk/ Follow Rudy’s journey on Instagram: @rudysw0rld ⸻ Timestamps 00:00 – Highlights: The moment everything changed 02:15 – The first signs and the COVID lockdown 08:50 – Getting the MCAHS1 diagnosis 16:10 – The heartbreaking reality of the second pregnancy 21:45 – The IVF journey and travelling to Barcelona 25:30 – Dexter: finding joy in “typical” motherhood 34:00 – Advice for parents facing a new diagnosis