My son Nicky was diagnosed with Epidermolysis Bullosa (EB) 12 hours after his birth, a month later we received the official diagnosis of “Recessive Dystrophic”. Here are my top 6 things to know about Epidermolysis Bullosa. 1. Epidermolysis Bullosa is a genetic skin disorder. Epidermolysis Bullosa it’s an umbrella term for a group of genetic skin blistering disorders. The condition arises from genetic mutations present at birth, which can be inherited either recessively or dominantly. Different mutations cause the different forms of EB, as the body does not produce or produce very little of certain proteins that cause the fragility of the skin. In rare cases EB can also be an autoimmune disease in which the body produces antibodies to the structural components of the skin. 2. There are a variety of types of Epidermolysis Bullosa. Epidermolysis Bullosa manifests itself in a variety of ways. The three primary types of EBRead More →

As EB Awareness week is approaching, I always hear the “numbers” of EB being floated around. One official website states the incidence of EB  is 1 out of every 20,000 births. Another official website states One in about 17,000 live births. Yet another official website states 1 in 50,000. The truth is, most likely nobody knows for “sure”. I am telling you this because I remember quite clearly a gal that was a waitress at an EB event who then went to the organizer to tell her afterwards that she thought she had EB, how her feet always blistered and nobody knew why. She later found out she indeed had EB. This happens because the genetics of EB are so unique and vary so much from patient to patient that the diagnose, especially in the more light forms, can be almost impossible to achieve unless you know what to look for. The simplexRead More →