A young mother has set up a GoFundMe page to raise money for the MEF2C Foundation, which supports children with Minnie Mae's extremely rare condition.
A young mother was terrified when her baby girl suddenly began experiencing seizures at just six months old. Ellie Richards, 22, took her daughter Minnie Mae to the GP, who thought the newborn could have a genetic disorder .
But tests revealed her child was born with an extremely rare condition affecting fewer than 500 people worldwide, with only 52 cases recorded in the UK. Minnie Mae, now three, was diagnosed with haploinsufficiency syndrome, a 'profoundly challenging neurodevelopmental disorder'. The condition affects the toddler's 'brain, muscles, sleep, and digestion'. She was diagnosed with epilepsy at 13 months old and suffers from a weakened immune system, hypotonia (decreased muscle tone), and speech and mobility issues.
The condition can cause autism and result in visual impairment, severe or chronic sleeping difficulties, and gastrointestinal problems. Minnie Mae's mother was initially told to 'prepare for the possibility' that her daughter may never walk or talk. She cannot walk independently, is completely non-verbal, and requires round-the-clock care from her mother
Haploinsufficiency Syndrome Neurodevelopmental Disorder MEF2C Deficiency Young Mother Baby Girl GP Genetic Disorder Rare Condition Rare Disease Emergency Room Tests
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