The average age of diagnosis for children with the most common types of Sanfilippo (A and B) is 4 years of age. By the time they reach a diagnosis most children with Sanfilippo have already suffered brain damage, and are experiencing the devastating neurological symptoms of the disease.
Early diagnosis is a top priority in the Global Roadmap to Sanfilippo Syndrome Therapies, and a priority of families, researchers and clinicians. Luckily, it's something that we can solve - but we need your help.
Early diagnosis means families would be spared the long diagnostic odyssey, could access clinical trials with better treatment outcomes and would be empowered to take steps to ensure their future children do not suffer the same fate.
Through specialised research and intensive advocacy we can make early diagnosis a reality and rewrite the story for families with Sanfilippo.
Help us rewrite the story, and change the lives of those affected by Sanfilippo.
Photography credit: Hilary Wardhaugh Photography