Clara was born in 2013 with severe generalized EB simplex.
Finding out your child has EB is a rather unique experience…for one, it takes some practice to learn a name like EPIDERMOLYSIS! I couldn’t even look it up because I had forgotten the name as soon as the doctor left my own hospital room. When we finally saw it written down we were able to do a quick google search…which I soon learned was a BAD idea given the wide range in severity this condition brings. Our daughter was born missing skin on her hands, feet, and leg. She spent the first 24 days of her life in the NICU. Received more antibiotics in this time then I have in my lifetime. She was fed through her veins, was transfused with blood, and underwent painful dressing changes every day. All the while, the clinicians were consulting with experts at another hospital since most had never seen the condition outside of a text book. Needless to say, we would soon be required to become the experts and advocate for our daughter.
Fast forward to present day. Our daughter is now 7 years old. She has severe generalized EB simplex due to a mutation of her Keratin 5 gene. While most people think of EB simplex as a relatively mild form of EB, we know that is far from the truth. Our Clara blisters everywhere, from head to toe, EB has affected her eyes, her esophagus, her teeth, her ability to move, and so much more. She requires two hours of wound care every day. She is followed by more specialists than I can count on one hand, and not one of them can offer us a proper treatment, because there is no treatment for EB.
Our daughter is a warrior. She gets up. She gets dressed. She goes to school. She plays. And she does this all with wounds scattered from head to toe. She does it when her eyes hurt, even when they cannot open. She does it when her feet hurt, and it is hard to even stand. She does it when her bottom hurts, and she cannot sit. She just does it. She swims. She is learning hula, and is a proud Girl Scout. She lives a good life. We strive every minute of every day to make things ‘normal’ for her, but EB does not give breaks. EB does not let kids be kids, without reminding them that there is a consequence for everything. These activities she enjoys, they are so good for her soul, and so hard on her body. We have decided it is worth it, but it is a decision no parent should have to make.
In the early years it was the pain, the wound care, the appointments that were so hard. With each passing year, it is the emotional toll that has become the hardest. ‘Mommy, can you tell me all of the ways in which EB affects my body’? “Mommy, can you explain to me why my skin blisters?” “Mommy, I wish I could play on the monkey bars.” “Mommy, I just realized that there aren’t any other kids at my school who wear bandages.” “Mommy, I really hate having EB”. “Mommy, if all of this is because my one gene, why can’t someone just fix this”. Soul crushing to hear these words out of the mouth of your child, who is still too young to know all of the ways in which EB will make her life more challenging.
You would never know it from her joy and her smile, but I can say without exaggeration that EB affects every aspect of my daughter’s life. It honestly impacts most every aspect of our family’s life. It is our normal. But it is not normal. So we thank you from the bottom of our hearts for reading and learning and caring. For supporting such a cause. For helping the EB community come one small step closer to a treatment… To a cure for a disease that just seven short years ago we had no idea even existed.
- Rebecca, Clara's Mom