Beta-propeller protein-associated neurodegeneration (BPAN)
Maddy
It took Madison’s family two and a half years to get answers. Finally, whole exome sequencing revealed a rare degenerative progressive disorder known as beta-propeller protein-associated neurodegeneration (BPAN), a neurodegeneration with brain iron accumulation (NBIA) disorder. Madison, 3, cannot walk or speak, has intellectual disability, poor motor planning, sleep disorder, and suffers from seizures. This disorder is frequently associated with the eventual development of dystonia, dementia, Parkinson’s, blindness, and premature loss of life. Madison loves music, turning pages in a book, and tapping blocks together. Her favorite activity is going on the swings.
She brightens up the room with her big beautiful eyes and smile. We love to play with her and hear her infectious belly laugh. We just have to appreciate every moment because we don’t know how long we have before she starts to lose the skills she has gained. It is extremely heartbreaking for our whole family to realize how devastating this disorder BPAN is and what will happen in the future. – Jennifer, Madison’s mother