Massachusetts is holding its first-ever AADC Deficiency Awareness Day on Oct. 23, according to a press release from PTC Therapeutics, developer of a gene therapy for aromatic l-amino acid decarboxylase (AADC) deficiency.
The day, recently designated AADC Deficiency Awareness Day in a resolution passed by Massachusetts lawmakers, will feature a virtual event that aims to raise awareness about the condition. It also will provide a means for parents, caregivers, patient advocacy groups, legislators, and gene therapy experts to share resources and collaborate.
Heger’s daughter, Jillian, was diagnosed with AADC deficiency when she was 3 months old; she was one of the first children in the U.S. to be diagnosed with this condition. Since then, Jillian has been given 24-hour care from family members, visiting health care professionals, and often inpatient hospital teams.
This hasn’t stopped Jillian — or her parents and three siblings — from engaging in family activities such as horseback riding, swimming in the ocean, and going to Disney World and Fenway Park.
Since Jillian’s diagnosis, her mother 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 effort toward a cure.
Kelly Heger will be one of four speakers at a virtual ceremony, which will take place at 10 a.m. EDT on Oct. 23. During the ceremony, the Commonwealth of Massachusetts will issue a formal proclamation for AADC Awareness Day.
The other three speakers at the event will be Bob Coughlin, the president and CEO of MassBio, Irina Anselm, MD, a neurologist at Boston Children’s Hospital, and Greg Fuest, lead of global gene therapy at PTC.
The event will be accessible to the public via a Facebook Live stream on PTC’s Facebook page. Interested individuals can RSVP to the event on the facebook page, or can simply visit the page when the event is scheduled to begin.
PTC is developing PTC-AADC, an investigational gene therapy for AADC deficiency. The company is planning to request approval of the investigational therapy from the U.S. Food and Drug Administration later this year.
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