What is Sanfilippo Syndrome Type A?

Sanfilippo Syndrome Type A is a rare and terminal condition, also known as childhood dementia, that causes progressive neurological decline.

What are the symptoms of Sanfilippo Syndrome Type A?

Symptoms include progressive neurological decline, gradual loss of abilities such as walking and eating, and early signs that can mimic autism.

Are there treatments for Sanfilippo Syndrome Type A?

While there is no cure, research is ongoing, and experimental treatments like the gene therapy UX111 aim to slow disease progression and improve quality of life.

Home / Health / Mom's Instinct Uncovers Rare Childhood Dementia Diagnosis

Mom's Instinct Uncovers Rare Childhood Dementia Diagnosis

24 Jan

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Summary

A mother's intuition led to the diagnosis of a rare, terminal condition.
Tate was diagnosed with Sanfilippo Syndrome Type A, also known as childhood dementia.
Experimental treatments show promise in slowing disease progression.

Mom's Instinct Uncovers Rare Childhood Dementia Diagnosis

A Swansea mother's unwavering belief that her son Tate's challenges were not solely due to autism has led to a heartbreaking diagnosis. Tammy, Tate's mother, noted his laid-back temperament and lack of emotional expression as unusual, persisting with her search for answers.

In March 2024, a CT scan revealed enlarged ventricles in Tate's brain, indicative of childhood dementia. Doctors subsequently confirmed he has Sanfilippo Syndrome Type A, a rare and fatal neurodegenerative disorder. This condition causes progressive decline, leading to loss of abilities like walking and eating.

Early signs of Sanfilippo Syndrome can closely mimic autism, often resulting in misdiagnosis. Children typically begin regressing around ages five or six, potentially requiring wheelchairs and feeding tubes by eight or nine. Tate, who has always been nonverbal, now faces a future where his mother understands she will never hear his voice.