This was on CNN a week or so ago, but because I had so much to write on last week, I’ll post this today. Students just finished studying connective tissue and other body tissues (some have practical exams this week on this). CNN spotlighted a patient with a very rare connective tissue disease.
Rafi was born with a rare connective tissue disorder called epidermolysis bullosa (EB). The genetic disease causes her skin to break down in response to the slightest friction. Even minor contact — the scratch of a fingernail, the tag on the back of her shirt — causes her skin to tear or to erupt in blisters, leaving 75% of her body covered in painful, open lesions.
It ravages her organs, damaging her heart, eyes, teeth and esophagus. Virtually no part of her tiny body is left untouched.
EB occurs when the body lacks the ability to produce a specific type of collagen, is so rare that few treatments exist. Eventually, EB proves fatal, either through organ failure, secondary skin cancer or infection. Worst of all, there is no cure.
But in New York City, where Rafi lives, a group of neighborhood mothers is hoping to change that, and in doing so, they are helping to change the way rare disease research is funded in the United States. Read more at http://www.cnn.com/2013/02/23/health/rafis-run/index.html
- Mayo Clinic Description of EB – http://www.mayoclinic.com/health/epidermolysis-bullosa/DS01015
- http://www.cnn.com/2013/02/23/health/rafis-run/index.html – with photos of Rafi and her sores
- The Stem Cell Institute at the University Of Minnesota in Minneapolis conducts early-stage research on EB treatments. – http://www.stemcell.umn.edu/