Abby Jones, is a bright and exuberant six year old. She loves to play and laugh. Just like any six year old, she has dreams and aspirations. However, Abby is not your ordinary little girl. Abby has Recessive Dystrophic Epidermolysis Bullosa, one of the most severe forms of EB. Each day Abby faces challenges, she must endure things that no child should ever have to endure.
According to DebRA of America:
Although in some cases this form of EB can be mild with generalized blistering, typically the recessive forms of EB tend to be more severe. Onset is usually at birth with areas of missing skin. Generalized blistering then scarring can occur on skin surfaces and mucous membranes. Scarring may limit range of motion of extremities. Fusion of fingers and toes and contractures cause deformity and loss of function.
In some cases there is relatively mild blistering on hands, feet, elbows, and knees; these cases are very similar to dominant dystrophic EB. However, recessive dystrophic epidermolysis Bullosa typically is characterized as follows:
Blistering onset is at birth or soon afterwards. In some cases, nearly all skin surfaces and mucous membranes (from mouth to anus) are covered by blisters. Large areas may be devoid of skin. There is widespread scarring and deformity. Fingers and toes may become immobile. With recurrent scarring, fingers and/or toes may fuse together. Hands and arms may become fixed in a flexed position with resulting contractures. There is usually loss of the nails of the fingers and toes. Teeth may be malformed and delayed in appearing through the gums. Because routine dental care can raise blisters, many persons with RDEB have a higher than normal incidence of cavities. Blistering on the mucosal surfaces often cause scarring within the mouth and gastrointestinal tract. The ingestion of food may be limited due to microstomia (inability to fully open mouth due to scarring and contractures of the perioral region), painful swallowing, difficulty chewing, (due to poor dentition) esophageal webbing. In many cases chronic malnutrition, growth retardation and anemia may ensue. Involvement of the eyes can include eyelid inflammation with adhesions to the eyeball, as well as inflammation of the cornea or the conjunctiva (the mucous membrane covering the eyeball and the underside of the lids).
Six years ago, Abby’s family (like most EB families) were thrust into this whole new world. Doctors were unsure of her condition or how to care for her, as is the case in many hospitals. EB is so rare that most doctors will never see it in there lifetime. Her family would have to learn how to care for their daughter, how to protect her skin from blisters and infection that could potentially be fatal. This was of course unexpected and undoubtedly caused much anxiety and fear. Imagine how her mom Valerie felt when her daughter was whisked away after only holding her for an hour, the agony of not knowing what is wrong or what to do. As a mother, I can tell you that I would be horrified.
Abby’s family struggled though those first days and finally were able to bring her home after nearly three weeks. They knew that life would be never be the same, but naturally they did everything that they could for their little girl. And it is evident when you see her that she is loved so very much, she has a very special family.
Upon meeting Abby, you would almost never know that she suffers every day because she has this incredible spirit that just shines; the joy just flows from her! As I watched her playing, I just soaked up all of the sunshine that she brought into the room. Her attitude is beyond contagious!
Abby inspires me because through her struggles and her pain she continues to embrace the joy in her life…a lesson so many of us could stand to learn. Abby may have EB, but it certainly does not have her. Thank you Abby for making me smile and bringing me joy. I hope you know how very special you are. You are such a beautiful little lady and you are going to do great things when you get older, in fact, you already are!