The story of Duet
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.