Feb 17, 2026
From Knee Pain to Gene Discovery: One Family’s Unexpected Diagnosis
What
started as routine investigations into hereditary knee problems
turned into a life-altering discovery for Luke Stockdale and his
family — a TBX4 gene mutation linked to pulmonary arterial
hypertension (PAH). In this episode, Luke shares how his mother’s
journey through years of respiratory care led to a rare diagnosis,
and how it’s changed the course of his entire family’s future. With
candor and urgency, he discusses the emotional weight of genetic
testing, the inconsistencies in clinical care, and his mission to
advocate for early detection and standardized monitoring.
Learn more about
pulmonary hypertension trials at www.phaware.global/clinicaltrials.
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