The Sanfilippo syndrome, also known as mucopolysaccharidosis type III, is a neurodegenerative disease that is ...

The Sanfilippo syndrome, also known as mucopolysaccharidosis type III, is a neurodegenerative disease manifested mainly affects children and in the central nervous system. The lack of an enzyme causes accumulation occurs gag's (long chain sugars - mucopolysaccharides) in lysosomes of cells, causing long-term dementia, mental retardation, motor disorders. It is a fatal disease, currently no cure or therapy. Being a rare disease, it is difficult to obtain information or solutions to deal with it.
As a mother of a girl with Sanfilippo type C, I learned that a diet without gluten and lactose improved the level of intestinal problems, lowering the frequent diarrhea and contributed to the reduction in nasal mucus, which was almost constant.
In terms of therapies, Speech Therapy, Occupational Therapy, Physiotherapy and swimming are essential in terms of stabilization and maintenance of acquired skills, since it is a disease degenerativa.No our case also the administration of the dietary supplement 'genistein' improved the liver of. Studies have shown the inhibition of gag's with the administration of this supplement in animal models, and supporting the development of a clinical trial with the product, taking place in Manchester in the UK, you want to taste a slowing of disease progression. The administration of this supplement should always be a joint decision with their physician in order to be an effective monitoring ensured.
The solution I have found to deal with this terrible diagnosis, was to seek other patients and patient associations and the World together financiarmos disease research in order to find a cure / treatment for the same. We formed an international consortium, we have created an animal model in order to test therapies and currently funded several research projects in disease.
We have created a community in Rare Sanfilippo Connect platform https://www.rareconnect.org/en/community/sanfilippo-syndrome
 and also a Register of Patients
https://connect.patientcrossroads.org/?org=SanfilippoRegistry so that together we can come up with a cure soon!