Rare Disease Awareness - Day 4

Over the meadow and through the woods, from blisters to wounds we go.

If you’ve been following along on our journey this week regarding Epidermolysis Bullosa (EB) awareness you are now well aware that one of the main characteristics of this diagnosis is blisters. Chances are, if you’ve done a good old-fashioned Google search and typed in EB, you have come across more than just photos of skin blisters, though. It’s more than likely that you’ve also seen large areas of skin that are scabbed over, large scars, and perhaps even open wounds. Unfortunately, the damage to the skin that happens from EB doesn’t simply start and end with blisters, it’s much more than that.

When we see a blister and lance it to drain the fluid, sometimes that protective layer of skin that formed the blister remains intact. When this happens, that area tends to heal faster as the skin around it serves as a barrier. However, this isn’t always the case. Sometimes, that thin protective layer of skin is so thin and fragile that it shears off, leaving in its path an exposed and raw area of skin. This open wound will now need to be thoroughly kept clean to prevent infection (something people with RDEB are at high risk for due to the number of open areas). As you can imagine, these areas take longer to heal as the skin needs to grow new layers of tissue during the healing process.

If these open wounds are in areas that are frequently affected by movement (such as around a joint) or near pressure areas (such as the buttocks and feet), they are at risk to become chronic. The skin doesn’t get a chance to heal effectively before it sustains another breakdown, therefore the integrity of the skin in that place becomes poor. Repeated chronic wounds can then lead to scarring. Scar tissue can then build up in that area. The scar tissue can then cause a contracture, which can then reduce or impede mobility. It’s surely not a pleasant cycle.

Graham’s body is in a constant state of healing, trying to repair the blistered skin and wound areas. Because of this, he requires more nutrients and calories to fuel this high metabolic rate than a typical child his age. Nutrient deficits, particularly anemia, are common in EB for this reason. A pediatric dietician is consulted as part of Graham’s team to assist in this domain, and thankfully he has continued to grow and thrive since he left the NICU.

When we look at our son endure all that he does it’s just truly astounding. It certainly puts things into perspective for us. Carl and I will say all the time, we just don’t know how he does it. When I think about having even one open area of skin it seems so painful. Yet, I will watch my son innocently playing with his rubber duck in the bath... many visibly raw and open areas of skin... splashing and smiling that million-dollar smile... without a care in the world... and I couldn’t be more proud. I am so honored that God chose me to be Graham’s mom. I’m not sure how I got so lucky to have the love of this amazingly radiant tiny human, but boy oh boy, I sure wouldn’t trade him for the whole world.

“You have been assigned this mountain so that you can show others it can be moved." --Mel Robbins

#thisisEB