Samantha is a beautiful 2-year-old baby girl. When Sam was 2 months old we noticed she was not meeting her milestones such as head control and focal tracking. After consulting with her pediatrician we started her with weekly therapies with Early Intervention. Although she has made progress the progress
has been slow. We decided it was best to consult a neurologist and developmental pediatrician. Nothing immediately showed on MRI's and other testing so we decided to run a few genetics tests as well. This July, we received a diagnosis of BPAN.
BPAN is a devastating diagnosis. The symptoms of BPAN are developmental delays, visual impairments, GI issues, epilepsy and as time goes on, cognitive regression, loss of motor skills, and dementia. Most regression begins to happen in late teen years or early adulthood, although some people have reported earlier regression. Samantha currently is non-verbal and non-mobile. But this means that when she gains those skills she will more than likely lose them. On top of that she could develop dementia.
Since Sam's diagnosis we have been reading everything we can regarding BPAN to try to help our daughter. As of today, there is no cure and they can only treat symptoms. The best way for us to help her today is by fundraising. There is NO GOVERNMENT FUNDING for this NBIA disorder. At present time, there are an estimated 200 people in the world with Sam's condition and we believe Sam is the youngest person in the USA to be diagnosed. Right now doctors understand what causes BPAN and how it progresses. They are just now trying to find ways of stopping the progression.