Monsie was born with Recessive Dystrophic Epidermolysis Bullosa (RDEB) over 30 years ago and has adapted to her condition with a remarkably optimistic candor. At 16, she overcame Squamous Cell Carcinoma, a common threat among people living with RDEB. Then 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. The couple is stronger than ever, although they have had to legally divorce to maintain access to healthcare while residing in Utah. Jamie Hartley, an RDEB advocate became Monsie’s mentor, before tragically dying from Squamous Cell Carcinoma a few years ago. With Jamie’s memory, and Justin’s day-to-day support, Monsie continues to advocate for herself and other people living with EB, seeking new treatments, and better access to health insurance.
Sanfilippo syndrome (MPS III)
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 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)
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 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.