The story of Nicole
Our daughter, Bianca was diagnosed with HSAN IV (hereditary sensory autonomic neuropathy) also known as CIPA (congenital insensitivity to pain with anhidrosis) at age 8 months old. Bianca was born in November of 2019. From birth, we knew that something was uniquely different about her. When receiving her newborn injections, Bianca did not cry or flinch like a typical newborn does. She was also experiencing hypotonic episodes that lasted through her first 6 months of life. Genetic testing was recommended after undergoing a brain MRI and EEG that was unremarkable. When Bianca was 8 months, her genetic testing results diagnosed her with HSAN IV.
Bianca has been in physical therapy since she was 6 months old, and still continues. She has made great gains with her tone. However, she is at risk for so many injuries, and unfortunately many have already occurred at her young age. Being able to not feel pain, exacerbates your sensory system thus leading you into a sensory seeking state. Living with a rare disease is complicated and frustrating due to the lack of medical information available.
Bianca is a bright, beautiful little girl whose smile lights up a room. She always makes her presence known, and her family loves her for that. She has continuously shown great determination through all her milestones. We are all so proud of Bianca, and will continue to advocate for her and all those affected with HSAN IV.
We have began the HSAN IV Foundation which is a 501(c)(3) non profit foundation for medical research of HSAN IV. We have a contract with a wonderful team of doctors in New York City who have already began a natural history study for HSAN IV. We look forward to future treatments for this rare disease.