Beta-propeller protein-associated neurodegeneration (BPAN) is a genetic disorder that damages the nervous system and is progressive, which means that it gradually gets worse. Affected individuals develop a buildup of iron in the brain that can be seen with medical imaging. For this reason, BPAN is classified as a type of disorder called neurodegeneration with brain iron accumulation (NBIA).
Children with BPAN have intellectual disability, delayed development including significant problems with vocabulary and producing speech, and difficulty coordinating movements (ataxia). Ataxia can affect the ability to walk and perform fine motor skills such as using utensils.
In late adolescence or early adulthood, individuals with BPAN begin to experience a gradual loss of intellectual functioning that can lead to a severe loss of thinking and reasoning abilities (dementia). Worsening problems with movement also occur, including dystonia and parkinsonism. Dystonia is a condition characterized by involuntary, sustained muscle contractions. Parkinsonism can include unusually slow movement, rigidity, tremors, an inability to hold the body upright and balanced, and a shuffling walk that can cause recurrent falls.
The lifespan of people with BPAN varies. With proper management of their signs and symptoms, affected individuals can live into middle age. More often than not, the regression stage begins as early as 12 or as late as 30, and not many BPAN patients live past 40.
Currently, there is no government funding to aid in the research for a cure. Although BPAN patients are increasing in numbers, it's still a very rare disease, with only 500 people diagnosed worldwide. All BPAN research is completely funded by private donors and fundraising efforts made by affected families. But the good news is that research IS happening: grants are being given to doctors and scientists to study BPAN, and there is hope! Please refer to the NBIA Disorders Association button at the top of this page to learn more about current studies and research.
Dahlia was diagnosed on May 1st, 2019. We had been down a long road of tests since she had been globally delayed noticeably at 10 months old. Dahlia is one of the youngest diagnosed with BPAN, and we are hopeful that there is ample time in her lifetime for a cure to be found. A cure to stop the regression, to stop the cognitive decline, to stop her from losing all the skills we are working so hard on her gaining. Dahlia is in therapy 5 days a week, and we hope she'll begin walking with confidence, cognitively improve, and speak some words. Our fight is to keep her healthy, happy, and alive as long as possible. Thank you for following along!