Ciara, a mother from Arlesey in Bedfordshire, is urging the UK government to increase funding and research into rare skin conditions after her son Ralph was diagnosed with junctional epidermolysis bullosa (JEB), a genetic disorder that causes skin to blister and tear at the slightest touch.
Ralph was diagnosed with JEB, also known as butterfly skin, just days after his birth. Ciara described her son's skin as "fragile as glass," noting that he was born with missing skin on his hands and feet. "We were new parents, we had never heard about this before and we had basically been told my son was like glass," she said.
The rare genetic disorder requires extensive daily care. Ralph's parents have learned to adapt their routines, greasing bottle teats to avoid damaging his mouth and turning baby grows inside out to prevent friction from seams. They spend up to three hours each night bandaging his feet.
Ciara initiated a petition calling for more research into the condition. The petition garnered over 10,000 signatures, leading to a response from the Department of Health and Social Care (DHSC). The DHSC stated that it has committed £1.075 million over five years for projects specifically related to epidermolysis bullosa, covering advanced treatments, symptom management, supportive care, and better care coordination.
Despite the allocated funding, Ciara expressed concern that her son's rare condition might be overlooked in research efforts. "It feels like families like ours are the ones being left to connect the dots. It just doesn't feel good enough," she stated. She questioned the effectiveness of the current system if families are still required to work tirelessly to raise awareness and campaign for improvements.
Tony Byrne, CEO of DEBRA UK, emphasized that research is crucial for individuals with butterfly skin, representing "the route to less pain, better treatments, and the hope of a cure." He added that dedicated government investment would provide researchers with greater certainty, facilitate the progression of discoveries into UK clinical trials, and ensure that rare conditions are not neglected.
Despite the challenges, Ciara has found hope in her son's resilience. "He is just the most stubborn, funny, resilient little boy. He loves simple things. When the trees move in the wind, it makes him so happy," she shared. "Despite everything he's so happy, he's so smiley. He won't let anything hold him back."