Hello! We are the Spurgeon family. We are a military family originally from Kentucky. Aaron (Dad) is in the Air Force. Erica (Mom) is a full time mom and college student at UND. Crowley (Brother) is 15 months old and loves playing outside. Freya (Sister) is 6 and going into 1st grade.
Freya was born on September 17, 2009. It was the happiest day, ever! She was our first child, so we didn’t notice right away that something was wrong with her eyesight. She seemed to see us because she would turn toward the sound of our voices. At her 4-month checkup her doctor noticed a slight wiggle to her eyes. This is known as nystagmus. She then referred us to an eye doctor in our town. At that visit they looked into her retinas and were very quiet. We couldn’t get them to say much until the end of the exam. The doctor sat down with us and informed us that her retinas did not look normal. He could not say exactly what was wrong or how much she could see. I (Mom) left that appointment very scared of the unknown.
After a few months we finally had an appointment with a pediatric ophthalmologist out of town. This took months because their machine that was used to do ERGs was in need of repairs. An ERG, or electroretinography, is an eye test used to detect abnormal function of the retina. Her test was flat. Her ophthalmologist sat down with us and informed us that she was blind and likely had Leber’s Congenital Amaurosis. We cried together and faced the reality that our daughter could not see.
The first 2 years were the hardest. It took time as sighted parents to accept this and overcome what felt like a great loss at the time. Fast-forward to now, Freya is turning 7 in September and she is amazing! She has thrived in school and learned to read and write braille in Kindergarten. She made the Honor Roll and kept up with her peers all year. She is also a cane user and works hard every day to become independent. Freya enjoys swimming, roller coasters, singing, playing with her brother, writing stories, and watching movies with audio description. She is the happiest person you’ll ever meet.
Genetic testing has confirmed that Freya has the NMNAT1 mutation causing LCA. It is our hope that a cure for this mutation will be developed. Freya will thrive and live a happy life regardless, but it is our belief that cures should be available for anyone that desires them.