How a Mother’s Journey is Bringing Attention to a Rare Life-Threatening Disease

Kelly Heger, whose daughter has Aromatic L-amino Acid Decarboxylase deficiency or AADC deficiency, a rare and fatal genetic disorder, shares her story of getting medical training to care for her daughter and learning to navigate the medical system to get her daughter the care that she needed. Kelly’s daughter is now 26 years old and Kelly advocates for and connects patients and caregivers around the world through an organization she founded, the AADC Family Network. She is joined by Dr. Irina Anselm, child neurologist at Boston Children’s Hospital, who provides more information about AADC deficiency including how parents can recognize the signs and symptoms.

Kelly Heger is a mother of four children and the primary caregiver of her daughter Jillian who was the fourth child in the world to be diagnosed with the ultra-rare condition aromatic l-amino acid decarboxylase (AADC) deficiency. Following Jillian’s diagnosis, Kelly decided to earn her nursing degree and provide round-the-clock care for her daughter. AADC deficiency is often left undiscovered and untreated due to a lack of awareness about the disease – something that Kelly strives to change. Today, Kelly dedicates her time and resources towards building awareness around Jillian’s story and AADC deficiency. Kelly is the Founder of the AADC Family Network, which promotes awareness, provides advocacy, and assists other AADC deficiency families working to navigate the disease. The foundation also aims to support other children who live at home with their families. Kelly resides in Bridgewater, Massachusetts with her family, where she devotes herself to building awareness towards AADC deficiency and bring impacted families closer together in a strong support system she has built throughout the years.