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Tiny Felix Battles Heart Defect and Rare Disease
15 Feb
Summary
- Felix was diagnosed with congenital heart disease and Myhre syndrome.
- Myhre syndrome is an ultra-rare genetic condition affecting multiple body systems.
- The family relies on a global Myhre community for critical support and insights.
Ivana Goluza Riddell experienced joy with the birth of her son Felix, who initially appeared healthy. However, routine checks soon revealed Tetralogy of Fallot, a serious congenital heart condition. Further genetic testing uncovered Myhre syndrome, an ultra-rare disorder caused by a SMAD4 gene mutation, affecting only 200-300 individuals worldwide.
Myhre syndrome is a progressive condition leading to stiffening of various body systems, including the heart and gut. Due to its rarity, clinicians often lack experience with its varied presentations, making parental advocacy and community support crucial for Felix's care.
Navigating Felix's complex health needs, including specialized heart surgery and managing feeding tube discomfort, has been challenging. The family actively collaborates with doctors and the global Myhre community, drawing on shared experiences to adapt treatments and minimize Felix's pain.
Despite the ongoing struggles and emotional toll, the family finds strength in Felix's resilience and their supportive community. They are committed to raising awareness for rare diseases and advocating for research into potential treatments.
