The story of Richard
Our daughter Rylae-Ann was born with a rare neurotransmitter disorder known as aromatic l-amino acid decarboxylase deficiency or AADC Deficiency for short. This disease affects around 135 people worldwide however there may be more who are still searching for answers or possibly misdiagnosed. The symptoms include hypotonia, ocular lyric crisis, anxiety, poor sleep and feeding, sweating, and more. This debilitating disease prevents many from living beyond the age of 7. If they do, they are bedridden and require 24 hours care.
However, our daughter was able to take part in a clinical trial Gene Therapy. Today she can read, speak, run, swim, and even ride a horse. The new treatment gives so much hope to our AADC Deficiency families and to others in the rare disease community.
We are educators. My wife Judy is a learning support teacher and I am an admin for technology and English. We try our best to support others in the community by providing educational support for little ones. I also write a column for BioNews about AADC which aims to bring resources to families and awareness.
We look forward to connecting to more families in the Rare Disease community!