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Amelia’s Story: One in a million

When Amelia was born, her parents knew something wasn’t right.Ā 

She struggled to breathe. There was a hole in her heart. Her blood sugar levels and platelet count were dangerously low.Ā 

Doctors knew something was wrong — but no one knew what.Ā 

After months of uncertainty, genetic testing finally gave them an answer: Amelia had Kabuki Syndrome, a rare genetic condition that affects development, mobility, and life expectancy.Ā 

Since then, Amelia has shown remarkable strength. She’s had intensive physio and occupational therapy, wears leg braces, and battles painful symptoms like brittle bones and frequent knee dislocations.Ā 

But there is hope.Ā 

Thanks to research by scientists like Dr Mark Graham at Children’s Medical Research Institute, new discoveries are being made that could transform the future for children with Kabuki Syndrome.Ā 

Medical research is giving families answers, and children like Amelia a chance at a brighter future.

Donate now to help fund the research giving kids like Amelia the chance to live longer, healthier lives.

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