Annual Review 2012 - DebRA

Our StoriesEB Simplex is the considered the least severeform of EB but affects the greatest number ofpeople, with approximately 70% of people withEB having this type. There are, however rarerforms of EBS which have proved fatal in infancy.With EB Simplex, blistering is usually confined tothe hands and feet, making holding things andwalking extremely painful.“Daisy often asks: ‘Why do I have blisters Mummy?’Dystrophic EB is more severe, affecting thewhole body including inner body linings. Thewounds heal very slowly, giving rise to scarring,physical deformity and significant disability.Approximately 20% of people with EB haveDystrophic EB. People with Recessive DystrophicEB also have an exceptionally high risk ofdeveloping skin cancer, shortening their lives byapproximately 30-40 years.“If love was a cure Mason would havebeen cured, he is so loved by everyonethat meets him and is one hell of acharacter!”Kerry, Mason’s MumDaisy’s hands and feetFive year old Daisy, pictured here with brotherJoseph, finds it difficult to understand whyblisters appear on her skin every day. It’s noteasy to explain why she is in so much pain, andwhy her parents and all the doctors and nursescan’t make her better.Her father explains: “Our family life has changedsince we've had Daisy, many hours are taken justby making Daisy comfortable. Sometimes wehave to abandon days out because Daisy is justnot well enough to go.Daisy’s started school now and it’s been adifficult learning curve for both us and theschool. A DEBRA specialist nurse visited theschool to explain EB and help them understandDaisy’s needs”.Daisy with brother JosephMasonWhen he was born, the skin was missing from hisright foot and leg and the top of his left foot. Thehospital emailed photos of Mason’s body to JackieDenyer, a specialist EB DEBRA nurse at GreatOrmond Street Hospital, who confirmed it was EB.The severity of Mason’s condition means that hehas already been critically ill after the lining of hisoesophagus came away. He now cannot swallowfood, fluid or medication and he has to be fedthrough a Gastrostomy button in his stomach.If Mason tried to eat or drink anything in thenormal way it would go into his windpipe anddown to his lungs.Junctional EB can be the most severe form ofEB, Herlitz JEB is usually fatal in infancy with onlya few babies surviving the second or third yearof life. Approximately 10% of babies born withEB have a form of Junctional EB. It is inherited14