Jennifer Desher

Thank you all for visiting P's page!

For the third year in a row, we will participate in the University of Pennsylvania’s Million Dollar Bike Ride in hopes of winning a matching grant of $30,000 for BPAN research. Please consider donating to the NBIA Disorders Association to help us raise funds to total a $60k donation. We hope and pray that with your help, one day we will have a treatment to help our kids living with BPAN.

On May 21, 2020, Kevin and I received Penelope's diagnosis, and like every parent of a child with a rare disease, confirming our worst fears was devastating. Although you can't tell from looking at a picture, Penny was diagnosed with an ultra-rare neurodegenerative disease called BPAN (Beta-Propeller Protein Associated Neurodegeneration). We received the news during the height of COVID via Telemed, and unfortunately, that left us with many questions and not truly understanding the magnitude of her diagnosis. A few days after receiving the initial diagnosis, with the help of researching ourselves, it hit us...and our world was turned upside down. That first year was the hardest and most trying time that we have ever had to go through in our lives, and it has taken me to my knees in tears more times than I'd like to admit. How is it possible that our perfect little girl will suffer from all things like seizures, motor loss, dementia and eventually become immobilized losing everything that she has been working so hard for? Although this information is unbearable to even think about, we are optimistic and thrilled to have a small but mighty community fighting the fight alongside us. We are all working together in the RACE against BPAN.

A Little About BPAN

Beta-propeller protein-associated neurodegeneration (BPAN) is an X-linked dominant genetic disorder caused by mutations in the WDR45 gene. It is part of a heterogeneous group of disorders known as neurodegeneration with brain iron accumulation (NBIA) that leads to progressive damage in the nervous system and a buildup of iron in the brain. While BPAN mostly affects females and causes a cascade of severe physical and developmental problems, the mutation is often lethal in males before they are born. Individuals with BPAN are developmentally delayed with slow motor and cognitive abilities. The onset of regression typically begins between the ages of 13 and 30 (Median of 25). Typically, they are unable to speak and develop little to no words. Seizures and sleep disorders are common. During adolescence or adulthood, affected individuals experience a relatively sudden onset of progressive and painful movement problems called dystonia-parkinsonism. They also experience cognitive decline and cannot regain skills once lost. The disorder was only discovered in 2012 and at this time there are no treatments nor a cure. Doctors and researchers alike are in an attempt to understand more so the development of effective therapies and advancements in medical care to prolong the inevitable, and hopefully secure a longer than the median age life span ends up being the light at the end of the tunnel. Being diagnosed with BPAN also means that it is now a race against time. The work to work towards a brighter future for those diagnosed and for those who have yet to be diagnosed with BPAN consumes TIME and MONEY.

Penelope's smile and vibrant attitude towards life gives us the strength and energy to put all that we have into research and development. These efforts will hopefully give us more time with her we so desperately desire.