Toddler Diagnosed with Sanfilippo Syndrome After Ear Infections and Developmental Regression

Cody Carroll, a toddler, began having recurring ear infections and hearing loss at age two. He received hearing aids, but his mother, Georgia Nonas, noticed additional developmental changes. Nonas said Cody had started to speak but then stopped. He received an autism diagnosis in August 2020. A consultant identified other signs that led to further testing.

Carroll was diagnosed with Sanfilippo syndrome type A in July 2021. The condition prevents the body from breaking down certain waste products, which accumulate in the brain and spinal cord. Physical symptoms include speech delays, sleep disturbances, and repeated ear, nose, and throat infections.

Children often develop a prominent forehead, bushy eyebrows, and a pronounced lower lip over time. The disorder causes progressive loss of the ability to communicate, eat, and walk. It typically results in severe intellectual disability and death in the mid-to-late teenage years.

Since diagnosis, Cody has experienced declining mobility and now uses a wheelchair for much of the day. He requires daily pain medication, a sleep aid, and treatment for epilepsy. Nonas said daily life affects Cody’s sleep, communication, mobility, and eating.

She has shared his story on social media to raise awareness of the condition. She advocates for earlier diagnosis so other families can access potential treatments sooner. No cure currently exists, but research continues into therapies that may slow progression.