Connor is a typical 5 year old boy, except he has a life threatening condition. He loves to play with cars, hang out with his friends, and pretend to be Spiderman. But sometimes the fun times take a back seat when he is home sick with a cold because of his low immune system or needs to rest because he is too fatigued.
We knew from six months old that Conner’s frequent respiratory infections were a sign of something more than the common cold, despite hitting all his previous milestones. After 2 years of blood work to understand his low immune system, muscle testing and physical therapy to understand his “wobbliness,” Connor was seen by a neurologist at Shriners Hospital in Tampa, FL, who recognized his symptoms. DNA sequencing confirmed his assumption and Connor was diagnosed with Ataxia Telangiectasia (A-T) in September 2009.
Connor currently shows minor physical signs and often says his legs are “tired” and wants to be carried. He receives physical, occupational and speech therapies daily and is on daily antibiotics because his immune system is weak. This elevates his risk of developing leukemia or lymphoma 1000% higher than his friends. Routine quarterly blood work is drawn to monitor his immune system. Most children with A-T are in a wheel chair by 8-10 years and need assisted technology to keep up in school.
With no formal treatment, no cure and no support from large pharmaceutical companies as A-T is considered a rare and orphan disease, the life expectancy of an A-T child is typically in the teens to early 20’s.
We cherish every day and live life to our fullest potential because we never know what tomorrow will bring.