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f you’ve never heard of Sanfilippo Syndrome before, you’re not alone. It’s a rare, inherited metabolic disorder—also known as mucopolysaccharidosis type III (MPS III)—that primarily affects children. Sometimes referred to as “childhood Alzheimer’s,” it causes progressive and severe damage to the brain.

Sanfilippo Syndrome is caused by a deficiency or absence of an enzyme needed to break down complex sugars called mucopolysaccharides (also known as glycosaminoglycans). When the body can’t process these sugars properly, they accumulate in the cells—especially in the brain—leading to worsening neurological damage over time.

There are four subtypes of Sanfilippo Syndrome: types A, B, C, and D. Each one is caused by a mutation in a different gene, affecting a different enzyme. Our families are impacted by MPS IIIB, the second most common subtype of the disease.

Children with Sanfilippo are born with the defective gene but often show no signs at birth. Early development may appear typical, which makes the disease difficult to diagnose. As it progresses, symptoms emerge—beginning with hyperactivity, behavioral challenges, and sleep disturbances, and worsening over time to include loss of speech, cognitive decline, seizures, mobility issues, dementia, and ultimately, death—usually during the teenage years, with an average life expectancy of around 15 years.

There is currently no cure. This is why raising awareness, supporting research, and working toward treatments is so critical.