The Worst Disease You've Never Heard Of

Epidermolysis Bullosa (EB) is a rare connective tissue disorder with many genetic and symptomatic variations.  There are five major types and over thirty subtypes of EB.  All share the prominent symptom of extemely fragile skin that blisters and tears from minor friction or trauma.  EB is a complex disorder that affects more than just the skin.  In the more severe cases, there is a long list of complications and secondary illnesses which require multiple visits to a range of medical specialists.  

Those with milder forms of EB have normal life expectancies but those with the more severe forms will often not live to see their 30th birthday.  Unfortunately, EB can be fatal in the few few days of life.  

As of today, there is no FDA approved treatment or cure.  Proper wound care, pain management, preventative bandaging and general symptom relief are the only options.  

EB is expensive.  Wound care supplies can cost more that $1 million a year.  A child may need six surgeries a year to just swallow their own saliva.   

Thankfully, we have made incredible strides in gene therapy, protein and cell therapy and wound healing topical creams.  We are standing on the precipice of making a real change int he lives of thousands.