Mother's Intuition Leads to Diagnosis of Rare Neurological Disease in Baby

Erinn Heffer gave birth to a beautiful baby girl named Remi, but she immediately knew something was “off”. A few months later, in October 2019, Remi was diagnosed with a rare and debilitating neurological disease. She is one of just 15 children in Australia diagnosed with the condition each year, according to the GRIN2B foundation. Heffer, from Griffith in NSW, told 7NEWS.com.au giving birth to Remi’s brother Nate, who is now five, was “straightforward and simple”.

But her mother’s intuition told her something was not quite right when Remi, who is now four, was born. Heffer said she had a lot of trouble feeding Remi, and she spent most days screaming and crying. “I knew something wasn’t right, but everyone told me it was fine,” she said. Remi was diagnosed with GRIN2B — a neurodevelopmental disorder which causes developmental delay and intellectual disability. “She likely won’t ever walk, will likely be non-verbal, and will have seizures for the rest of her life,” she said. Heffer said it was a tough time for their family, with Remi taken to hospital every week for a month

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