Summer sun is life-threatening for sisters with rare genetic disorder

For most Aussie kids, summer means freedom – long afternoons in the sun, backyard cricket, beach trips and pool parties.But for sisters Amielle, 12, and Taya, 7, sunlight is life-threatening.The Sydney girls live with Xeroderman Pigmentosum (XP), an incredibly rare genetic condition that leaves them unable to repair UV-induced DNA damage.Even the smallest amount of sunlight can cause severe burns and raises their risk of skin cancer by up to 10,000 times.They also have a 2,000-fold increased risk for cancer of the eye surface.As they prepare for their fifth summer since their diagnosis, the heat is already “relentless.”“It’s sad and confronting,” their mom Yvette Walker told news.com.au during an emotional interview.“No amount of UV is safe for them.”XP is so rare that the Walkers only know of six other families in Australia with the condition.Amielle was diagnosed at seven, and by the time doctors confirmed it, the damage on her hands already resembled what would normally be seen on a 40-year-old.Taya was diagnosed at two-years-old and doesn’t remember a world without these boundaries.“There’s an anxiety there for Ami because she knows it leads to cancer,” Yvette said.The disorder is genetic – a double recessive mutation causing a critical DNA process to fail.Both parents are carriers, even though it hasn’t appeared in their family before.Every day, the girls would return from school with major burns, particularly on their faces and lips.When they decided to see a doctor, their concerns were initially dismissed.“They told us it was fine and there was nothing to worry about,” Yvette said.After pushing for answers, the family was finally given some closure, but it came at the cost of their lives “shrinking massively.”“When we first told Ami, she put herself into bed and cried.

There was a lot of resistance to everything we needed to implement,” said Yvette.The news was life-changing for Yvette and their father, Nick, yet alone...