Here is where the story begins… After an MRI in August of 2015, Sydney was diagnosed with a thin Corpus Callosum with delayed myelination. We thought this was the answer we were looking for, however a follow up MRI a year later showed her myelin count increased to full potential, but also different unclear findings. This prompted us to move forward with the second round of genetic testing.
After a long stressful wait, January 24, 2017 we got the results we had been waiting for and our hearts were broken.
Sydney’s genetic test showed that she has an extremely rare neurodegenerative disease called BPAN. There are less than 100 people in the entire world that are currently diagnosed.
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 BPANers 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.
We know that Sydney does not show every typical symptom of BPAN and that she is currently a little more advanced developmentally than most other children with BPAN. This gives us hope for the future.
The NBIA Disorders Association focuses on research and raising awareness for NBIA families. Research is currently being focused on BPAN and they are searching for treatments that may help Sydney in the future! There are currently 2 mice trials that we hope within the next 3 years or so will become clinical human trials! These trials have been completely funded by families of children with BPAN!! NBIA Disorders Association is funded from the community and does not receive any government funding for research. Since there are no treatments available and no cure for this devastating disease it is imperative that we raise awareness and get researchers the funds they need in order to continue to search for treatments, and hopefully eventually a cure! Please consider making a donation! All donations raised through Sydney’s Song will be designated specifically for BPAN research!
The thing that keeps us going is knowing the fact that EVERY ONE OF US is terminal, NO ONE is guaranteed tomorrow! We are on a mission to make every single day the VERY best that it can be. We are doing anything and everything that we can to learn about this disease and save Sydney!
We love each and every one of you so much and thank you so much for your love and support of our Sweet Sydney!