The story of Madison
📍 Madison was diagnosed with BPAN 7 1/2 years ago in 2015 when she was 3 years old. She will be 11 years old in July. We thought our life was over when we learned about this horrific disease but Maddie is still living and happy for now. That will all change in the near future. BPAN — Beta-propeller Protein-Associated Neurodegeneration (BPAN) is a rare disease caused by mutations in the gene WDR45, located on the X chromosome. It is so rare it is considered an ultra rare disease that is genetic. There are said to be about 500 cases diagnosed world wide. It is a degenerative disorder that is similar to Parkinson’s disease in many way. It is an NBIA disorder (Neurodegeneration with Brain Iron Accumulation).
Generally, the individuals with BPAN are healthy, but they may exhibit other problems. Global developmental delay, non-verbal, intellectual disability, seizures and sleep disorders.
Often there is a loss of brain cells and tissue in the cerebral area of the brain, a condition called generalized cerebral atrophy. During adolescence or adulthood, affected individuals experience a relatively sudden onset of progressive dystonia-parkinsonism and cognitive decline resulting in premature death. We must find a cure or treatment for BPAN for all of our kids who are suffering greatly from this horrible disease.