Kelly Heger, Founder of the AADC Family Network and mother and caregiver of Jillian Heger, who lives with aromatic L-amino acid decarboxylase (AADC) deficiency, describes Jillian’s diagnostic journey.
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder that affects the nervous and musculoskeletal systems of young patients. It is caused by a defect in the dopa decarboxylase (DDC) gene, which leads to a reduction in the critical neurotransmitters dopamine, norepinephrine, epinephrine, and melatonin in the brain.
A day after Jillian’s birth, at which time everything seemed normal, Ms. Heger recalls feeling unwell and needing to return to the hospital. While in the hospital, Ms. Heger’s husband bumped into a nurse and noted to her that Jillian felt cold when he and his wife kissed her. The nurse took Jillian’s temperature, which was so low that the nurse thought the machine must have been broken. She was quickly brought to the emergency department and covered. Jillian would spend a month in the hospital where she was tested for just about anything the physicians could think of. Unfortunately, the hospital could not identify what was causing her symptoms.
When Ms. Heger brought Jillian home, Jillian started to have oculogyric crises, which are characterized by abnormal rotation of the eyeballs, muscle spasms, and uncontrolled head and neck muscle action. Ms. Heger brought her back to the hospital and, by chance, the physician on call that day was the one who had diagnosed the first case of AADC deficiency in the U.S. two months prior. Jillian was diagnosed that day with AADC deficiency.
Following this diagnosis, Ms. Heger started the AADC Family Network, which promotes awareness, provides advocacy, and assists AADC deficiency families navigating the disease.
For more information about AADC deficiency, visit checkrare.com/aadc-deficiency/