Our beloved Amelia passed away unexpectedly at home on July 4, 2021. Amelia suffered from NBIA*, specifically PLAN which is a neurodegenerative disease. She had the atypical type which allowed her to live a normal life until she was 19.
*NBIA stands for “Neurodegeneration with Brain Iron Accumulation.” The hallmark feature of NBIA disorders is abnormal iron accumulation in specific parts of the brain. Though iron accumulates in all of the NBIA disorders, it is actually a ‘side-effect’. The main problem in each NBIA disorder is the failure of animportant protein to carry out its essential cellularfunction. That function differs for each NBIA disorder and is based on the specific gene that is mutated. The symptoms of NBIA and the age at which they appear are different for each NBIA disorder. To date, there is no cure. Click here for more information.
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