Family works to raise awareness of rare Sanfilippo syndrome after son's diagnosis
Watching children grow and reach developmental milestones such as first steps and first words can be some of a parent’s most cherished memories. The joy of seeing children build themselves up and grow is unique. Unfortunately, families affected by Sanfilippo Syndrome must endure a progressive reversal and decline of affected children.
Sanfilippo Syndrome, also known as mucopolysaccharidosis type III, is a rare genetic condition that is classified as a type of childhood dementia. It is caused by the lack of an enzyme that normally breaks down and recycles a large, complex sugar molecule called 'heparan sulfate', leading to its accumulation in the central nervous system.
Children with Sanfilippo Syndrome usually appear healthy at birth, but developmental delay typically becomes evident by age 2-5 years. Then, children can start to lose their intellectual functions, especially speech, followed by motor function. Some other symptoms that may occur include coarse hair, excess hair growth, slightly coarse facial features, and seizures among others. Unfortunately, children with Sanfilippo Syndrome live on average to be between 15 and 20 years old.
To learn more about the diagnosis and treatment of Sanfilippo Syndrome, watch the dedicated Osmosis video on YouTube and Osmosis.org
