Andreas
Life on an island: Advocating for a child with Bainbridge-Ropers Syndrome in Cyprus
Having an ultra-rare disease can feel like living alone on an island. For a family from Cyprus, a small island nation in the Mediterranean, navigating their son’s intense medical challenges has been exceptionally isolating.
Andreas, now age 14, had a constellation of mysterious symptoms as a young boy. He could not walk nor speak, had physical malformations in his feet, and experienced seizures. His mother, Cristina, drove him all over the island to any doctor who would examine him but she found no answers. Even dentists refused to treat Andreas for his dental issues because they were afraid to anesthetize him. The only advice she received was to commit her son to an institution and move on with her life. The cruelty they faced continued at school as well: Andreas attended a special school where he was physically abused.
After years of persistence, Cristina found a clinic in Turkey with a geneticist who was willing to help look for answers. In 2017, a genetic test revealed a variation of Andreas’ ASXL3 gene: Bainbridge-Ropers Syndrome (BRS). The geneticist knew nothing of BRS and emailed what little information she could find on the internet to Cristina. “I was in shock,” Cristina said about Andreas’ incredibly rare diagnosis. “It took me three days to tell my family.”
Despite having a BRS diagnosis, their challenges continued. Cristina took the paperwork confirming Andreas’ diagnosis to their doctor in Cyprus, hoping to develop a care management plan for him. But the doctor threw it away. With geopolitical challenges with Turkey, the doctor in Cyprus refused to accept a diagnosis that came from a rival nation. Additionally, she refused to collaborate with doctors that Cristina had found in the United States who had experience with BRS.
Andreas and his family were alone on an island again.
Determined to help her son, Cristina turned to the internet. She found the Facebook support group, where she saw posts from other families with children with BRS who, with intensive therapies, were able to walk and communicate using adaptive communication devices. She knew more was possible for her son with the right treatment. She found a program at the Shiner’s Hospital for Children in Springfield, Mass. that could correct an earlier surgical operation on his feet in hopes of getting him closer to walking. In 2018, Andreas and his family came to the United States for corrective surgery on both his feet. The family stayed at the Ronald McDonald House while Andreas recovered from surgery and began intensive physical therapy. While they were in Massachusetts, Cristina took Andreas to see Dr. Wen-Hann Tan at Boston Children’s Hospital where she enrolled him in the ASXL Patient Registry.
The trip was a success for Andreas and a relief for his family who had long endured intolerance for Andreas’ disabilities. “Other children staying at Shriner’s would play with him,” Cristina remembers warmly. “In the United States, no one is watching my son like he’s an alien.”
The family returned home to Cyprus following a successful surgery with a treatment plan. In a physical therapy session not long after their return, Andreas suffered an injury to his feet. The progress he had made with walking since surgery came to a halt, and he returned to his wheelchair on the advice of his care team in the United States.
Then came another setback: a global pandemic. Like so many other families, Andreas missed appointments and therapies. He had grown significantly over the year, and Cristina knew time was ticking away for him to make progress before reaching adulthood. Despite Cristina’s advocacy for access to medications, doctors in Cyprus were unsupportive of trying even simple treatments like melatonin to help Andreas sleep better at night.
In 2021, Andreas, his parents, and older sister returned to the Shriner’s Hospital again with a medical visa to enroll in intensive physical therapy and to try medications. Andreas started on clonidine, a common medication for people with neurodevelopmental disorders. Within days, Andreas showed signs of progress by making more eye contact and showing curiosity in things around him.
But through the hope comes more worry. Their medical visa is temporary and Andreas and his family will have to return home to Cyprus. Cristina is unsure if Andreas will have access to the medications that have provided him with so much cognitive improvement.
“He ate popcorn for the first time,” Cristina said with joy and relief during an interview in August 2021. “He is making funny faces to make us laugh. He is playing with toy cars. He never did that before. I just don’t want to don’t want to undo his progress.”
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