By Sheri Coil
A bit of History
Shortly after Christmas one year, we received a phone call asking us if we were interested in caring for two little boys with a very rare disease that affected their skin. We are caregivers to medically fragile children and like to care for those with ‘challenging’ conditions. The oldest, Corey was 14 months and the younger brother, Alex, was only five weeks old and not yet five pounds. They had Recessive Dystrophic Epidermolysis Bullosa: Hallopeau-Seimens subtype, a rare double recessive genetic disease that affected the integrity of the collagen VII area’s in the skin. This meant that any shear pressure on their skin would cause it to lift causing blisters to form or for the skin just to peel off at the lamina densa level or in other words at full depth of skin. The fibrils that hold the skin to the flesh are made of Collagen VII are greatly compromised if not non existent. When the blisters form in an area of damage, they fill with more and more liquid and keep growing larger and larger since the anchoring fibrils were not there to hold the surrounding tissue together.
We said that we would take them but had no idea of the ‘challenge’ we had accepted. They were both hospitalized in Packard Children’s Hospital at Stanford for ”wound management”. Both children were on morphine for pain and in very poor condition. Corey had an absence of skin on about 75% of his body, his toes were webbed over completely and his fingers were encroaching his palms they were so badly mittened and contracted. What everyone failed to tell us was that no one expected them to live long enough to make it back to the next clinic appointment. Which turned out to be a good thing in the long run. We got them and only saw future. We did not concentrate on death, but rather on life! It was a year before we were told this expectation. When their little sister, Brandi, was born the next year, s