RDEB is an incurable, often fatal skin blistering condition caused by a lack of collagen protein in the skin. This makes the skin incredibly fragile, leading to blistering or skin loss at the slightest friction or knock. It is progressive and incredibly painful.
The level within the skin layers at which the defect occurs and therefore at which the shearing happens, is so deep that it is equivalent to a third degree burn and is incredibly painful.
External skin and internal skin are affected, leading to blistering in the mouth and oesophagus (food pipe) and on the surface of the eyes. For a sufferer, this means that eating is always painful.
Swallowing can be very difficult due to scarring of the oesophagus, necessitating balloon dilatation to allow food to pass. Many children and adults are fed via a gastrostomy tube to allow adequate nutrition.
The fragile skin around the anal sphincter is similarly affected leading to fissures, intense pain and often constipation because of the pain associated with this everyday act. Laxatives and softeners are used on a daily basis in an attempt to combat this discomfort.
If the UV protective layer of the cornea is sheared off the eye is vulnerable to UV light. The intense pain that this causes leads to a sufferer closing his/her eyes rendering them temporarily blind till healing occurs.
The progressive nature of RDEB leads to scarring and contractures. In real terms this means hugely reduced mobility, fusing of the fingers and toes causing mitten deformities, microstomia (small mouth opening) and therefore significant disability. Most children of Sohana’s age are wheelchair bound. After years of skin damage and pain the majority of sufferes will succumb to a malignant skin cancer, Squamous Cell Carcinoma before the age of thirty five.
Doctors begin to look for skin cancer in the late teens.