This is Ali, she's 9 years old and is autistic and has an incurable disease called Neurodegeneration with Brain Iron Accumulation (NBIA).
NBIA is a group of rare, genetic neurological disorders characterized by abnormal accumulation of iron in the part of the brain that assists in regulating movement. The reasons are still unclear, but people like Ali who have extra iron in the brain, present with a progressive movement disorder. In Ali’s case PLA2G6-Associated Neurodegeneration (PLAN) of the atypical neuroaxonal dystrophy (NAD) subtype, has been identified. This means that Ali only started having symptoms in later childhood, experiencing movement and communication difficulties, and behavior changes that are characteristic of the Autism Spectrum. At this time, there is no cure for NBIA, so only the symptoms of the disorder can be managed. It is also a progressive disorder which means that the symptoms will become worse over time.
Many people with the same disease don't live as long as she's been fighting for. Her body becomes weaker and weaker to a point that she will need assistance for even basic human functions.
Her wish for her birthday is to receive birthday cards from people across the country, possibly the world. She loves Disney and collecting seashells.
NBIA is a group of rare, genetic neurological disorders characterized by abnormal accumulation of iron in the part of the brain that assists in regulating movement. The reasons are still unclear, but people like Ali who have extra iron in the brain, present with a progressive movement disorder. In Ali’s case PLA2G6-Associated Neurodegeneration (PLAN) of the atypical neuroaxonal dystrophy (NAD) subtype, has been identified. This means that Ali only started having symptoms in later childhood, experiencing movement and communication difficulties, and behavior changes that are characteristic of the Autism Spectrum. At this time, there is no cure for NBIA, so only the symptoms of the disorder can be managed. It is also a progressive disorder which means that the symptoms will become worse over time.
No comments:
Post a Comment