December 3, 2014 is a day that I will never forget. Standing in an emergency room we were told that our 8-year-old son, Bryce's blood test/lab work results came back with devastating results. Our son has a rare progressive, degenerative genetic disorder called Ataxia-Telangiectasia. I didn’t understand what this meant, or what exactly it was. The neurologist explained that Ataxia-Telangiectasia is a fatal disease and there is currently no cure.
On the A-T website it explains the disease as follows: “Imagine a disease that combines the worst symptoms of muscular dystrophy, cerebral palsy, cystic fibrosis, immune deficiencies, and cancer. Children with A-T are usually confined to wheelchairs by age 10 and often do not survive their teens. Because A-T is a multi-system disease, scientists believe that A-T research will help more prevalent diseases such as Alzheimer’s, Parkinson’s, AIDS, and cancer.” (A Children’s Project)
The team of doctors standing around us began to explain the horrible process of deterioration that the body goes through with this disease. First, he will begin to loose his gross and fine motor abilities. This is where we are now; he has trouble walking and falls frequently. He just got his first wheelchair. Later, his speech will suffer, we are seeing a bit of this now, as his voice is pretty shaky. With this disease also comes the risk of cancers and immune system failure, and infections. It is hard to think about watching our little boy progress through such awful stages.
Bryce is the sweetest, most easy-going kid, and the best big brother. He does not know all that is to come with this disease. He does know that he is different and understands that he is loosing his abilities to walk and write. However, through this, he remains the most positive and happy little boy! He loves to laugh and have fun. Our focus now is to enjoy our time with Bryce, make as many memories as possible and to make him smile as often as we can.