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Mum Watches Son, 3, 'Fade Away' From Dementia
18 May
Summary
- A three-year-old boy was diagnosed with childhood dementia, Sanfilippo syndrome.
- The rare disease causes severe intellectual disability and typically early death.
- His mother is advocating for early diagnosis and pursuing potential gene therapy.
A mum is facing the devastating reality of watching her three-year-old son, Cody, decline daily following his diagnosis of Sanfilippo syndrome, a rare childhood dementia. Initially diagnosed with autism in August 2020, Cody's parents noticed significant developmental regression, including loss of speech, and distinctive physical features that pointed to the inherited disease.
Sanfilippo syndrome, diagnosed in July 2021, is a progressive condition where the body lacks an enzyme to process waste, leading to buildup in the brain and spinal cord. This causes severe intellectual disability, affecting communication, mobility, and swallowing, with a life expectancy typically in the mid-to-late teenage years. Cody now relies on a wheelchair, has difficulty swallowing solid foods, and experiences pain, sleep disturbances, and epilepsy.
Cody's mother is now a vocal advocate, sharing his story to raise awareness for early diagnosis. While no cure exists, the family holds onto hope for a gene therapy treatment in America, UX111, which could slow the disease's progression. They are focused on creating memories, including a planned trip to Disneyland Paris in July, while navigating the emotional toll of anticipatory grief.
