Episode 94: Amanda Cole - Malan Syndrome

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 specialities, 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.