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.
What we didn't know before Charlotte's diagnosis: A-T is genetic and our family carries the recessive gene mutation. This makes us 3 times more likely (estimated lifetime risk of 20-30 percent) to suffer from breast cancer. It changes our lifetime risk of pancreatic cancer risk to 5-10%. Our family, including myself, are going through the process of genetic cancer screenings. It’s a long and stressful process.