We are parents, siblings, aunts, uncles and friends of fantastic children to whom genetics has played a nasty ‘trick’.
Their young lives have to deal every day with a disease that is as unknown as it is serious: Mucopolysaccharidosis type 3 or Sanfilippo syndrome.
We want to make as many people as possible aware of this disease. Considering its rarity, there are so many doctors, paediatricians, teachers and therapists who do not know it and therefore do not know how to recognise it in children. Understanding it is the first step to being able to deal with it.
A rare glance
Our children’s stories
Nicola is 12 years old and when he was born he was chubby, with black hair, like his mum and dad.
Ginevra e Giorgia
Hi everyone, I am Ginevra and I have a younger sister called Giorgia... we are two naughty girls!
We currently have two research projects starting in 2021: one funded by our association and one funded by the Telethon Foundation.
In addition, we follow the project already underway and financed by the two large associations Cure Sanfilippo Foundation and Sanfilippo Children’s Foundation, and we mention the project to support Sanfilippo families
Sanfilippo syndrome or mucopolysaccharidosis type III is a rare hereditary neuro-metabolic disease, i.e. a genetic error of metabolism.
Mucopolysaccharides are long chains of sugar molecules, which are used in the construction of connective tissues.
When the body has finished using these molecules, it breaks them down with enzymes, then recycles or eliminates them. Children with Sanfilippo syndrome lack or are deficient in the enzyme that breaks down these molecules, so the body stores them.
You can help us and support research in many ways, any help, even a small one, can make a difference.