The story of Jennifer
Our daughter, Madison Ruby, was diagnosed with BPAN (Beta-propeller Protein-Associated Neurodegeneration, a subtype of NBIA Disorder (Neurodegeneration with Brain Iron Accumulation), on September 16, 2015 at the age of 3 years old. She is 9 1/2 years old now.
BPAN is an ultra rare disease and Madison is said to be one of 500 diagnosed now throughout the world. The number of people diagnosed have increased by the week as the Whole Exome Sequence blood test is being prescribed to patients to get answers.
Unfortunately, the prognosis of this disorder is not good. It does terrible things to the body. BPAN is extremely debilitating limiting Madison’s ability to communicate, move, learn and live an independent life. BPAN is progressive! Children with this devastating disorder get worse in their teens and early adult years with complications such as dystonia, dementia and Parkinsonism. They will be wheelchair bound, G-tube fed as they have a hard time swallowing & moving their tongue to eat. They can lose their vision as well. Madison will lose the developmental skills she has worked so hard to gain. It gets worse over time, resulting in a painful premature death! BPAN is terminal! This is the worst thing our family has faced and we never imagined ever having a special needs child, let alone a horrific, debilitating and degenerative disease! No parent can ever imagine this but we are determined to fight to spread awareness, and to raise money for research to find a cure or treatment!!
Maddie is a beautiful, happy, silly and loving little girl with big beautiful eyes. Her signature look are her pigtails, glasses and big bows to match her outfits. She has the best belly laugh and makes great eye contact when you talk to her. She loves music, pressing buttons on toys and flips through books. She loves her brothers and they love her. All they want is for her not to suffer. That’s all we could ever ask for. We can not imagine life without our precious daughter! We can not watch this terrible disease destroy her and take her away from us! She is a bright light in the room who brings us joy but also so much sorrow. We will never get to see her graduate from college, get married, have a child of her own or have a career. All we want now is for her to live a long and pain free life but that will not happen unless we find a cure or treatment.
We need to save Maddie’s life!! BPAN is terminal and she will suffer a slow painful death during her early 20’s or 30’s. Thank you so much for your love and support!!
Please consider making a donation to help us reach our goal to raise money for BPAN research!
Thank you so very much!!