A rare diagnosis
About two weeks after being admitted to the NICU, blood tests confirmed Jaciel’s diagnosis—epidermolysis bullosa simplex (EBS). EBS is the result of a genetic mutation in either the KRT5 or KRT14 genes.
It causes the skin to be very fragile and to blister easily as a result of minor friction or injury, such as rubbing or scratching. Jaciel even formed blisters in his mouth, making feeding him a challenge.
“EBS is very rare,” Dr. Weiner said. “We may see one case a year. The level of care that Jaciel required is only available at a Level IV NICU pediatric hospital like Children’s Mercy.”
Though there is no cure for EBS, treatment focuses on supportive care—preventing formation of blisters, caring for blistered skin and treating infection.
Jaciel’s medical team included subspecialists in pediatric dermatology, neonatology, ENT, wound care, surgery, child life, nursing, social work and his family.
To prevent the blistering, Jaciel was covered in Vaseline from head to toe, then wrapped in special dressings to protect his fragile skin from friction and infection.
“Whenever we would touch Jaciel, we had to be sure our gloves or the stethoscope were coated in Vaseline to prevent blistering,” Dr. Weiner said. “The tiniest bit of friction might cause more blisters to form.”
To be certain he was in the best hands, a dedicated medical team changed the tiny baby’s bandages three times a week, with dressing changes sometimes taking as long as two hours.
Because Jaciel formed blisters in his mouth that made it difficult for him to eat, he also required a feeding tube. To prevent blisters from forming in his airway during the procedure, anesthesia, surgery and ENT used a different approach to place the feeding tube, bypassing his trachea and using his nasal passage instead. Thinking outside the box paid off, and Jaciel tolerated the procedure well.
Pamela credits Jaciel’s nursing team, including Katelyn Younggren, RN, and Kate Reynolds, RN, with helping her baby to steadily continue to improve. Eventually, the care team taught Jaciel’s parents to perform his dressing changes, training them to take charge of his care before being released.
“Jaciel’s family has been amazing,” Dr. Weiner said. “They have been very involved, coming to the hospital to perform his dressing changes themselves a couple of times a week. They are an integral part of his medical care.”