The debilitating rare genetic disorder aromatic l-amino acid decarboxylase (or AADC, for short) deficiency is the focus of the first AADC Deficiency Awareness Day in the State of Massachusetts, United States on October 23, 2020. This official designation will help enable parents and caregivers, patient advocacy groups, legislators, and gene therapy experts to raise awareness, share resources, and work together toward a cure.
This groundbreaking event is being spearheaded by AADC caregiver and founder of the AADC Family Network, Kelly Heger, along with health care industry leading organizations PTC Therapeutics, MassBio and Boston Children’s Hospital. The State of Massachusetts will issue a formal proclamation for AADC Awareness Day at a virtual ceremony.
Kelly Heger’s daughter Jillian was diagnosed with the rare disease AADC deficiency when she was just five months old, and became one of the first children to receive this diagnosis in the U.S. Since then, Jillian has required 24-hour care from family members, visiting health care professionals, and often even inpatient hospital teams.
Jillian’s story demonstrates how a loving family can make all the difference between a short life, and one full of measurable moments. Along with her parents and three siblings, Jillian has travelled to Disney World and Fenway Park, ridden a horse and swam in the ocean, among other activities. While Jillian is unlikely to benefit medically from any future gene therapy innovation, her mother Kelly has become a pioneering advocate for AADC awareness. She founded the AADC Family Network to help the AADC community gain access to resources and unite in the campaign for a cure.
One such resource is the PTC-sponsored PINPOINT initiative which provides genetic testing and counseling for people who may have a neurotransmitter disorder, such as AADC deficiency. Through PTC PINPOINT, patients can access testing at no charge, which can lead to an earlier diagnosis and treatment. PTC PINPOINT uses the Invitae Neurotransmitter Disorders Panel from Invitae Corporation, a leading medical genetics company.
The first AADC Deficiency Awareness Day event will take place virtually on 10/23/2020 at 10 a.m. EDT and will feature commentary from:
- President & CEO, MassBio Bob Coughlin
- Founder, AADC Family Network Kelly Heger
- Neurologist, Boston Children’s Hospital Irina Anselm, MD
- Chief Development Officer, PTC Therapeutics Matthew B. Klein, MD, MS, FACS
Interested members of the public are invited to join the event via Facebook LIVE stream. To view, simply like PTC on Facebook, RSVP for the event listing on Facebook, or go to our Facebook page when the video stream begins on that Friday.
For additional information about aromatic l-amino acid decarboxylase (AADC) deficiency, please visit one of the following websites: