“He Gives Everything a Go” — Elliott, Living with MOCD Type A

About this episode

The episode explores Elliott's journey with MOCD Type A and the impact of experimental treatment on his life and family.

Severe seizures, nonstop crying, and an exaggerated startle reflex marked the beginning of Elliott’s journey with molybdenum cofactor deficiency type A (MOCD type A), an ultra-rare inherited metabolic disorder that can cause devastating neurological damage shortly after birth. After initially being told that Elliott would likely not survive to school age, his family was offered access to an experimental treatment that changed the course of his life. In this episode of On Rare, David Rintell, Head of Patient Advocacy at BridgeBio, and Mandy Rohrig, Senior Director of Patient Advocacy at BridgeBio, travel to England to meet Elliott and his family and hear how they navigated diagnosis, uncertainty, and hope after already experiencing the heartbreaking loss of another child. Geoff and Lucy, Elliott’s parents, reflect on the emotional toll of diagnosis, the realities of managing complex medical care at home, and the joy of watching Elliott grow, attend mainstream school, and live life alongside his siblings. Their story highlights the importance of early diagnosis, caregiver resilience, and the life-changing impact of treatment for rare disease families. Dr. Günter Schwarz, Professor…

People in this episode

Hosts: David Rintell, Mandy Rohrig

Guest: Elliott

Topics covered

• rare disease
• patient advocacy
• metabolic disorder
• family support
• medical treatment
• early diagnosis

Keywords

• MOCD Type A
• molybdenum cofactor deficiency
• seizures
• experimental treatment
• patient advocacy
• family resilience

Mentioned in this episode

Organizations: BridgeBio, University of Cologne

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