Rare Disease Day is a moment to recognize the more than 300 million people worldwide living with a rare disease1—and to reflect on the progress made, as well as the work still ahead. For patients and families, rare diseases are not defined by a single day, but by the realities they navigate every day and the continued need for innovation.
Methylmalonic acidemia (MMA) is a rare, life-threatening genetic metabolic disease that affects the body’s ability to break down certain proteins. For infants and children with MMA, toxic metabolites can rapidly build up, triggering metabolic crises that may lead to organ failure and lasting neurological damage.2 Early diagnosis and careful management are critical, yet for many families, daily life requires constant vigilance.
For one family, that reality is deeply personal. Sarahya and Xayvior were both diagnosed with a severe form of MMA as infants, a moment their mother describes as devastating. Their childhoods have been shaped by feeding tubes, frequent hospitalizations and the risk of metabolic crises. MMA continues to impact their daily lives, requiring ongoing care and vigilance. At the same time, they find ways to express who they are—Sarahya through her creativity and desire to help others, and Xayvior through his love of basketball and time with his family. Their story underscores why continued scientific innovation is critical to advance future treatment options for people living with MMA.
Watch their story:
1 https://www.rarediseaseday.org/what-is-a-rare-disease/
2 Chen T, Gao Y, Zhang S, Wang Y, Sui C, Yang L. Methylmalonic acidemia: Neurodevelopment and neuroimaging. Front Neurosci. 2023 Jan 26;17:1110942. doi: 10.3389/fnins.2023.1110942. PMID: 36777632; PMCID: PMC9909197.