From Silence to Hashtag: How Medical Mums Promote Sanfilippo Syndrome Awareness on Instagram

Rare diseases are often under-recognized, leading to significant diagnostic delays and limited treatment research. Social media, particularly Instagram, has become an important platform for mothers of children with rare diseases - so-called “medical mums”- to raise awareness, share expert knowledge, and foster supportive communities. This exploratory study systematically analyzed Instagram accounts run by mothers of children with Sanfilippo syndrome, a rare and fatal genetic disorder. Thirty-two relevant accounts were identified, collectively amassing nearly 1.9 million followers. Detailed content analysis of the three largest accounts revealed a balance between sharing everyday family life, medical information, emotional experiences, and advocacy, often utilizing both imagery and video formats. Notably, children with Sanfilippo syndrome are frequently depicted, though some accounts use privacy-protective strategies. Engagement from followers is overwhelmingly positive, indicating substantial community support. Product placements also occur, reflecting the economic realities for affected families. Overall, medical mums of children with Sanfilippo Syndrome use Instagram to increase knowledge and public awareness of rare diseases, build supportive digital networks, and serve as influential advocates for their children and the rare disease community.