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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
View all episodes
By Rosie Fawehimi✨ 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