Imagine being hit by accident. At the point of impact there is a bruise or abrasion. In a few days it will disappear without a trace. Zuzia, instead of a bruise, gets a bladder. The bladder must be immediately pierced because in other case it fills with fluid and grows, undermines healthy skin and hurts very, very much. Often on impact, the skin is peeled extensively. Zuzia sometimes has even tearing the skin and bladder together.
Imagine that you injured yourself with boiling water or steam. It hurts, doesn't it? Zuzia feels such pain every day. An injured place must be immediately secured with a dressing so that it won't stuck to the clothes. It cannot be normal plaster, because there will be no possibility to take it off. It must be a special dressing, imported on request. Sometimes a dressing tucks up at night and sticks to pyjamas. Imagine the pain when we try to peel it off even with great gentliness. Zuzia "peels off" on her own. She slowly pulls clothes from the wound. First come the tears, and then a smile that she manages to do this.
Zuzia has a failure in a gene responsible for the production of collagen in the skin. Thus, the skin isn't concise and separates from its deeper layers. As it was once described, patients with EB don't have glue in the skin. The pain felt by Zuzia is comparable to burns of a second degree. If you have ever burnt out, you know what I mean.
EB is not just a problem with the skin. EB is associated with anemia, underweight, the problem with eating, constipation, contractures of hands, conjoined fingers. When a patient is older blisters also appear inside the body. Most patients with EB suffer from chronic anemia and underweight. It is caused by the extensive wounds and blisters. Just when we heal one wound, the second appears. Sometimes there are fewer of them, sometimes, when there is a crisis, Zuzia is covered all in blisters and wounds. Zuzia's body can't regenerate. That's why she has anemia and is underweight. We fight with it almost from her birth.
A person with EB must drink a lot of fluids. This need comes from the continuous loss of body fluid. It is easy then for dehydration. Zuzia drinks about 2 liters per day.
When the wounds are getting better, the skin becomes very itchy. Zuzia then has a very strong impuls to scratch herself. She scratches so hard that the newly healed wound starts bleeding again. Medications, ointments antipruritic do not always help. Zuzia scratches herself during sleep or just before going to sleep. Till she was three we sometimes watched her all night, took her hands from the itchy place... And so the dawn.
Blisters at patients with EB aren't only generated on impact, or after pressure, but also spontaneously. Heat or sudden changes in temperature cause the rash of transparent blisters that can be easily broken. A broken bladder is difficult to heal. And, what I know from my daughter, it hurts very much. Zuzia "prefers" blisters created after strike because they heal faster.
In dystrophic EB, the biggest problem is contracture of hands and confluent fingers. Most patients instead of a hand have a uniform mass, a hand looks like a clenched fist which cannot be opened, or as a bludgeon. At the age of two Zuzia's fingers began to curl up. We lost the battle with contractures and we are slowly losing the battle with confluent fingers.
At the moment Zuzia remains under the care of many specialists: a surgeon, a gastroenterologist, a physiotherapist, a pediatrician, a psychologist, a hematologist, a nutritionist, a dermatologist and a dentist, and every year there is a new specialist added to this list.