Amanda talks about her son Ben and his diagnosis of Malan syndrome, a rare genetic neurodevelopmental condition caused by a change in the NFIX gene, first identified in 2010 and diagnosed in only around 450 people worldwide.

She describes Ben's early years, characterised by repeated health issues that all seemed unrelated, before a neurologist finally connected the dots and ordered a whole genome sequencing that led to Ben’s diagnosis. She speaks candidly about the mixed relief and grief of learning the cause lay in his genes, and how the diagnosis unlocked specialist support that has helped Ben receive the support he needs and thrive in mainstream school.

Amanda also talks about the realities of being Ben's care coordinator across eleven medical specialties, the power of connecting with other families through the Malan Syndrome Foundation, and — drawing on her own career as a health economist — the challenge of funding research and treatment for conditions with such small patient populations.

This episode is about diagnosis, adaptation and the strength found in community — and the idea that rare conditions, taken together, are far from rare at all.

The song that Amanda chose is No Such Thing As Normal by Electric Umbrella.

In this episode of On One Condition, Sylvain talks to Niamh Foster about the ischaemic stroke she had at just 26 years old, a stroke caused by a blood clot blocking blood flow to part of her brain.

Niamh describes the middle-of-the-night onset she initially put down to stress, the drooping face and slurred speech that finally sent her to hospital, and the ten transient ischaemic attacks (TIAs), or mini-strokes, that had quietly warned her for weeks beforehand, mistaken at the time for migraines. Doctors eventually traced the cause to a two-centimetre hole in her heart — a patent foramen ovale (PFO) that many people are born with and never notice, unless, like Niamh, it lets a clot travel straight to the brain.

She talks openly about relearning to speak through aphasia and dysarthria, the frustration of losing words she knew perfectly well, and the fourteen months off work that felt like watching her life pause while everyone else's carried on. That period also led her somewhere new: from a career in fashion into a job supporting fellow stroke survivors at the Stroke Association, now contributing to the very Life After Stroke group she once attended as a patient.

This episode is about diagnostic delay, the science of neuroplasticity, and finding purpose on the other side of a life-changing event.

The song that Niamh chose is I'm Still Standing by Elton John.

Andrew is the father of Diego, who was diagnosed with peroxisome biogenesis disorder (PBD), a rare and potentially devastating genetic condition affecting an organelle found in every cell of the body.

Andrew shares the emotional reality of receiving a diagnosis when doctors could not tell his family what the future would look like, and that there were no treatments available. But alongside the uncertainty came a determination to understand the disease and do something about it. What began with Andrew learning how to read scientific papers and reaching out to researchers eventually led him to leave his career and work full-time to build an ecosystem around peroxisome research.

The conversation goes beyond Diego's story. Andrew explains why the peroxisome has historically received far less attention and funding than other areas of biology, and why changing that requires more than scientific discovery.

Ultimately, this is a story about turning an incredibly difficult diagnosis into purpose, while never losing sight of the child and family at the heart of it.

Andrew chose the song Un Poco Loco by Anthony Gonzalez and Gael García Bernal.