The recent media coverage of Mr. Jonathan Pitre introduced me to a real life example of a rather rare genetic condition that I had only come across in textbooks.
Young Mr. Pitre, a 14 year old teenager, is wise beyond his years. He has been forced to look at life quite differently from you and me due to his diagnosis of ‘Epidermolysis Bullosa’ (EB).
I’m sure the name sounds scary enough on its own, but the thing you want to associate that string of letters to is the feeling and the sensation of pain.
Let us not get stuck on terminology and language, Greek and Latin transliteration. Epidermolysis is all about pain. As I mentioned above, this condition is genetic in origin and it affects the structure of that complex set of tissues that we collectively refer to as our skin.
We tend not to think about it too much, however, the skin is a pretty complex organ. It is metabolically active, constantly growing and changing, and constantly replacing lost tissue. The structure dictates a lot of the function.
One very important characteristic for our skin which aids in its functioning is its elasticity and stretchability. There are specially formed connective tissues in the central layers of our skin that handle that aspect. The problem with kids with EB is that this particular layer fails to form correctly. The skin loses its elasticity. Imagine your skin tearing and fracturing with every touch, every move.
Imagine being able to feel our skin tear and fracture and swell and inflame, every minute of every day, for the rest of our roughly 25 year spanning life!
EB is a life of pain beyond anybody’s imagination. The fact that Mr. Pitre has any dreams for his life and his career beyond battling that pain is a testament to his will and determination.
Treatment is all about scientific and hygienic wound care, chronic pain management, a steady dose of anti-inflammatory medication and occasional steroids. Recent research does aim at managing the disease on a genetic or at least a more fundamental level. There are some clinical trials going on into new treatments but, so far, results are preliminary.
I think the most important thing to keep in mind is the rarity of the issue and the relative lack of media, money and research focus on the treatment of these problems. You and probably no one you know actually suffer from this disease and thank the stars for that.
Though, I do think it’s important to magnify the issues dealt with by these patients and get people thinking about how to make their lives better.
Head over to www.debra.org and read more about EB and how YOU can help.
|Article is related to|
|Diseases and Conditions||Blister, Epidermolysis bullosa, Skin rash, Skin hypersensitivity, Epidermolysis bullosa acquisita|