I'VE NEVER HEARD OF BPAN.
WHAT IS IT?
Imagine our brain as a supercomputer that controls everything we do, from moving our muscles to thinking and feeling emotions. Like any computer, the brain needs proper instructions and maintenance to function correctly. In our brain, there are tiny components called proteins that play crucial roles in keeping everything running smoothly. One specific type of protein is called the "beta-propeller protein," and it has an essential job in maintaining the brain's health. Now, in the case of BPAN, something goes wrong with this beta-propeller protein. Due to a genetic mutation, the body cannot produce this protein correctly, or it may not function as it should. As a result, certain parts of the brain start to malfunction. These malfunctions can lead to a range of neurological problems that become apparent over time. Children or young adults with BPAN might start experiencing difficulties with movement and coordination, like walking or using their hands. They may also have speech and language difficulties, trouble learning, or changes in behavior. Additionally, BPAN can cause a condition called "neurodegeneration," which means that some parts of the brain begin to deteriorate or waste away gradually. This process can lead to progressive loss of brain function and, in severe cases, impact an individual's ability to perform daily activities independently. Families and individuals affected by BPAN often face many challenges, but they are not alone. There are support groups, medical professionals, and ongoing research to help improve the lives of those living with BPAN and find ways to manage the symptoms.
On December 8th of 2021, we received some news that turned our lives upside down. Our 2.5 year old daughter Duet is non verbal and has some developmental delays as well as potential seizure activity that caused us to do quite a bit of testing. An EEG showed a predisposition to epilepsy. An MRI showed some mild abnormalities, and blood work showed that things just weren’t quite right. Finally we received our answer when the genetic test results came back and all the pieces came together. It was then we discovered that Duet has a rare disease causing mutation on the WDR45 gene called BPAN which is an NBIA disorder (Neurodegeneration with brain iron accumulation) The amount of people with this condition is just around 500 known cases worldwide. At its worst, BPAN is neurodegenerative and could likely shorten her lifespan to midlife while struggling with a painful condition known as Parkinsonism and cognitive decline leading to dementia. We aren’t intending this message to make anyone feel sorry for us, we truly view this challenge as a gift. This path we will be on with our daughter is an experience that will shape us as people and change the course of our lives for the better. We are blessed to be her parents and are hopeful in the advancement of research for a cure. Though there are challenges we will face raising our daughter, we are ready to take on the commitment to do whatever we can to give Duet the best possible quality of life.
January 24, 2017 was the day our life changed. Our daughter Sydney was diagnosed with an extremely rare neurodegenerative disorder. There are less than 1,000 cases reported worldwide. BPAN (Beta-Propeller Protein-Associated Neurodegeneration) is a type of NBIA (Neurodegeneration Brain Iron Accumulation). BPAN is spontaneous and not a hereditary disease. It is X linked which means that it is mainly found in girls, there are only a few boys cases reported. People affected by BPAN typically have childhood global developmental delays, intellectual disability, an ataxic walk, multiple seizure types, slow cognitive gains, and little to no speech development. Typically around the age of 25 BPAN individuals begin a sudden onset of regression and will develop muscle spasticity involuntary movement, cognitive decline, Parkinsonism, and Dementia. She will slowly lose EVERYTHING she has worked so hard to gain.