At our anatomy scan is when we noticed there may be something going on and we started having several ultrasounds and doctors appointments “preparing” for delivery. After Knox was born, everything they saw prenatally ended up being okay and we were then overwhelmed with all the new information and challenges they were seeing- colobomas, heart defects, hearing loss, horseshoe kidneys, swallowing difficulties, facial palsy, etc. We started to suspect it was CHARGE, but did not get genetic results and a formal diagnosis until Knox was 1 year old.
Most recently, Knox got a g tube and ended up with a tracheostomy due to his critical airway. We have encountered several doctors not very familiar with CHARGE and Knox has showed his strength and proved them wrong every step of the way.
What would you like to tell other people about CHARGE syndrome?
These kids are so incredibly strong and prove doctors wrong ever day. They don’t let anyone hold them back and there is no limit to what they can accomplish.
The 2023 global theme for Rare Disease Day is “Health Equity.” What does equity in health mean to you?
It means that my child can have access to what he needs- whether it be doctors, therapies, equipment, etc. As parents, we are our child’s #1 advocate and we know them best.
