"I am a 24 year old girl, I live in Rome and I suffer from a rare disease. In addition to the normal problems that a girl has to face today, I am forced to fight every day even against the obstacles that my disease requires me to, but I am strong enough to deal with them all."
Beatrice suffers from the rare disease Dystrophic epidermolysis bullosa. Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterised by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation.
DEB is the second most common form of EB, the first being EB simplex.
The clinical picture varies widely, ranging from mild to severe. Onset is usually at birth but a delayed onset in infancy, childhood or adolescence can also be observed. Skin lesions, forming spontaneously or in response to friction, may show a generalized or a localized distribution, particularly on the hands, feet or pretibial areas.
Management is preventive: protective padding of the skin and careful wound care reduce blistering, scarring and prevent secondary infection. Hand deformities can be treated surgically, but have a high recurrence. Nutritional requirements should be evaluated by a dietician and gastrostomy feeding may be necessary.
In the face of such a prognosis, Beatrice’s strength of character has been a source of admiration for all those around her: “I was diagnosed at birth with Dystrophic Epidermolysis Bullosa and no one in the family had ever expected such a thing. But I was a strong, cheerful and curious little girl and this has helped my parents and the rest of the family not to be disheartened and react.”
Beatrice describes how essential the support of her family and friends is in her daily life: “Despite my illness being highly disabling, with the continuous lesions that form on my skin which is too fragile, increasingly locked hands and skin cancers which I have had to fight against in recent years, I have still managed to build a fairly normal life. I have the support of my family and the company of friends, with whom I like to spend time and have fun. They help me to keep going as do my interests such as reading, drawing, sports and excursions in the parks.”
Despite her daily struggles, Beatrice’s determination never falters: “Now my main occupation is shooting, and I'm training to be able to participate in the upcoming Paralympics. I do not know how long my life will be but I will not let the disease break me down and I will make the best use of all the time I have left.”