On August 3, 2006, Anna entered the world weighing five pounds. Two week later, her mother received a call that Anna needed to return to the hospital. A newborn screening revealed that Anna had tested positive for a rare adrenal insufficiency.
A combination of delayed growth and motor skills led to a visit with a neurologist. This visit revealed that Anna had a deletion of her chromosome 2p 11.2. In addition, Anna was diagnosed with Perthes disease in her right hip.
One night, Anna’s mother came face to face with her worst nightmare. Her daughter’s hip joint was in three pieces and this caused Anna to go into adrenal crisis. She found Anna having seizures and immediately gave her an emergency injection but it wasn’t enough. Paramedics arrived and Anna was rushed to the emergency room. Even though that night was terrifying, her mother said that she “had never felt so much relief as when the bay doors opened and I recognized every nurse and doctor standing there waiting to take care of Anna.”
Today, in addition to Perthes disease, Anna has been diagnosed with adrenal insufficiency, a bone condition, and multiple epiphyseal dysplasia. Anna has fought like crazy and has had surgeries on her legs with more to come. She is in a wheelchair but only uses it when she is in pain. In addition, she takes medication four times a day to replace her stress hormone cortisol, Aldosterone to keep her electrolytes balanced, and has blood work done every four months.
Though Anna has been through a lot in her ten years and 76 ER visits, she is always down for a good practical joke. Anna is known for scaring her doctors and nurses, and is always looking for a good laugh. She has been a fighter and her mother says, “She is the strongest person I have ever known.”