My daughter, Eloise, has epidermolysis bullosa junctional. The junctional is one of the types of epidermolysis bullosa, or EB. What exactly is EB?
It is a very rare genetic connective tissue disorder that affects 1 child out of every 20,000 births. EB is actually a group of disorders that share a prominent manifestation of extremely fragile skin that blisters and tears from friction or trauma. Internal organs and bodily systems can also be seriously affected by EB. The list of secondary complications can be long and may require multiple interventions from a range of medical specialists.
The manifestations of EB, the symptoms the person suffers from, and the overall long term outcome on quality of life run the gamut from mild to devastatingly severe. This is dependent on several factors including the type and subtype of EB and the inheritance pattern (autosomal dominant versus recessive). There are many people who are diagnosed with milder forms of EB, which, while they can be extremely difficult and painful to live with, are not disfiguring or lethal. In these forms of EB blistering of the skin may be limited to the hands and feet which may not result in any scarring or loss of function. In more severe forms there is generalized blistering of the skin as well as injury to many internal organs and bodily systems. These more severe forms of EB result in disfigurement, disability and early death, usually before the age of 30. In fact, some forms of EB are lethal in the first few months of life.
"I have EB... I am not contagious. I wear bandages to protect my skin. I was born with it, and there is no cure. Epidermolysis Bullosa, or EB, is a rare genetic disorder. My body can't produce the protein I need to make my skin strong like yours. I get blisters very easily and sometimes they hurt. Today, there is no cure or treatment. Daily wound care, pain management, and protective bandaging are my only options." - This paragraph is on the cards that I have ordered to give to people.
My first initial thought when I heard of this disease barely a month ago was "How is that even possible? A child's skin just falls off?" But it's true in the sense of when you think of a blister. Where we have regular connective skin. Theirs is not.
Daily things for us are not the same for us. If we wear clothing that rubs us we barely notice it or it makes a red spot and that's the end of it. For her, it may not be the case. She will blister and not just red skin or tiny white pocket filled with fluid. She will get the ghastly large blisters.
Eloise does have the lesser of the types and subcategories. We are very grateful for that each day. I make sure to remind myself each day by reading the blogs of those that are not so lucky. I send encouraging words to them and let them know they are in my prayers.
We start out our day by me changing her diaper and nursing her. I make sure that we have bandage change areas in our home away from fun areas in our home. This helps her distinguish between areas that will hurt her and areas that are comforting.
After she is finished nursing I take her for a sponge bath (or Frankie does) and she is washed and we pop any new blisters we see and drain them and then bandage her. We are not allowed to wear gloves because it irritates her skin more so we just have to make sure our hands are washed well. We have small scissors and lancets to pop the blisters. After there is a puncture in the blister we let gravity help with the draining of blister. We put ointment on it and bandage of her blister. We cannot use adhesive because it makes her skin worse.
We have started learning to go about our daily normal lives. It does no good to watch her every step. She stumbles over her own feet and falls like I do. When her knees her the floor it's almost instant blisters. I take her to one of the areas and bandage her up.
As I have said before we are lucky. She can play in the sand without blistering. She can have a teddy bear. Most children with EB can not do these normal things. Some children are tube fed because eating scars their throat.
We still watch for rubbing, scratching of any kind on her. But this is what life is like for us. We live each day to the fullest now that we are over the initial shock and realizing we can't stop every blister. We say our prayers every night for those battling this that are much worse off.
If you are wandering how you can help children with EB find a cure go to
Debra Take Action.
