Mark Riddell has described the emotional ordeal of discovering his daughter Maggie's rare genetic condition, which took years of global research and connections with other families to identify. Born in 2012, Maggie had unusually tight joints and distinctive foot shape, leading doctors to warn of potentially fatal conditions. After initial tests ruled out the most severe diagnoses, the family was left without a clear answer.
Determined to find a cause, Riddell spent months poring over medical charts and online research, eventually identifying arthrogryposis multiplex congenita (AMC), a rare umbrella term for multiple joint contractures. A referral to a specialist clinic in Philadelphia, over 2,000 miles from their home, provided some answers but no specific diagnosis. Maggie required annual trips for serial casting to stretch her joints.
Riddell connected with other parents worldwide through online communities, sharing symptoms and genetic data. This grassroots effort led to a breakthrough: a geneticist identified a mutation in the CHRNG gene, confirming a rare form of AMC. The diagnosis brought clarity and access to a global network of families facing similar challenges.
Today, Maggie, now 12, walks with assistance and communicates using a tablet. Her father emphasises the importance of community and persistence in navigating rare diseases. 'The answer was on the other side of the world, but we found it together,' he said.
