Careers Contact Us Facebook Twitter LinkedIn Home About Science Clinical Trials Patients & Families Investors & Media Patients & Families PATIENT ADVOCACY & COMMUNITY ENGAGEMENT (PACE) OUR FOCUS RESOURCES OUR INSPIRATION ACCESS POLICY In the Community Abeona employees play an active role in supporting our patient communities by putting advocacy into action. We frequently participate in special events, patient conferences, and industry forums that raise awareness of the diseases we seek to treat, educate the general public, and inspire others to advocate on behalf of patients. Have our updates sent straight to your inbox SUBSCRIBE NOW Our focus Rare Genetic Diseases Recessive Dystrophic Epidermolysis Bullosa Sanfilippo syndrome (MPS III) Batten disease (CLN1 and CLN3) Resources Rare Genetic Diseases Epidermolysis Bullosa Sanfilippo syndrome (MPS III) Batten disease (CLN1, CLN3) Our Inspiration Epidermolysis Bullosa Monsie 1984 – 2020 RDEB Monsie was born with RDEB and adapted to her condition with a remarkably optimistic candor during her lifetime. At 17, she met Justin, who had educated himself about the condition—an important factor as the two began a lasting friendship-turned-relationship and eventually married. Sadly, Monsie succumbed to Squamous Cell Carcinoma in 2020. She was a strong advocate for herself and other people living with EB, and her determination lives on in those she touched during her far too brief lifetime. Read on to learn more about Monsie’s brave journey. •••• Sanfilippo syndrome (MPS III) ••• Aislinn MPS IIIA Aislinn was diagnosed at the age of five with Sanfilippo syndrome type A forever turning her family’s life upside down. Her mother Amy, once a social worker, suddenly found herself reaching out to many of the same services she had referred other families to, and gained support from the Sanfilippo patient community online and National MPS Society. Brian, Aislinn’s father, utilized his connections with local businesses in Charlotte, NC and his proclivity for organizing to start a patient foundation, Aislinn’s Wish, which has raised thousands of dollars for Sanfilippo research. Along with Colin, her older brother, Aislinn’s family supports her wishes—mainly to be exuberantly happy—and continues regular schooling and therapy, reaching small milestones amidst the stark nature of the diagnosis. Austin MPS IIIB Austin is entering his teen years with Sanfilippo syndrome type B and he is starting to slow down. It used to be difficult to take him out in public because he couldn’t control his energy, running amok through crowds, but now he prefers to stay home and sleeps more. His family works diligently to support his happiness these days, knowing well that they might be numbered. Austin still enjoys riding around on four-wheelers in the countryside of rural Michigan, and traveling with Sandy and Ryan, his parents, as well as with Allison and Bryce, his two siblings. The family continues to come to terms with the stark realizations of Austin’s condition while supporting him and each other in collective joy. ••• Batten disease (CLN1, CLN3) •••• Leighton INFANTILE BATTEN DISEASE (CLN1) When Ben and Kara first gave birth to Leighton it was a miracle in itself, as she was one of the first children diagnosed prenatally with Uniparental Disomy, meaning her first pair of chromosomes came from one parent. While she was developmentally delayed, Leighton’s early days held hope for the future and passed without major incident. However, after a doctor’s visit to deal with sleeping issues, the family found its way into the gauntlet of genetic specialists, leading to her rare and terminal diagnosis. Since then, Ben, Kara, extended family, and friends, have plunged into the world of supporting three-year-old Leighton through at-home care, and community-based activism in Ohio. This is the story of their love as a family and their local “Love for Leighton” community event and fundraiser. Theodore CLN3 Theodore lives in Athens, Greece with his parents, Christos and Christina, as well as a host of supportive caregivers and aids. At the age of six, his parents suspected he was going blind and in the coming months learned that their son was born with Juvenile Batten disease. Without any resources in Greece, the family set out on their own, traveling abroad numerous times to learn more about the rare condition. Theo’s condition continues to advance as he grows, and he struggles to maintain connection with the world around him. However, he finds great joy in social gatherings, and following his favorite sport, soccer. His family continues to hold out hope that medicine can help their son despite his condition. ••• Access Policy CLICK TO VIEW Reach out with any questions at all. Sarah Friedhoff Email: sfriedhoff@abeonatherapeutics.com Associate Director, Patient Advocacy and Clinical Affairs © 2021 Abeona Therapeutics Inc. All Rights Reserved. | Privacy Policy