My Butterfly Baby
In most cases I don’t agree that “ignorance is bliss.” In general, the more information we have, the better people we are and the wiser our choices. But there are certainly some things I wish I didn’t have firsthand knowledge of. I wish I didn’t know how McDonald’s chicken nuggets are made. I wish I never had to learn how to get spaghetti sauce throw-up stains out of white carpet. And I really wish I wasn’t aware of the incompetence of people who don’t know how to drive through traffic circles. (Those people make me a sinner.)
And many days, I wish I never had to learn about a disease so horrible it seems ripped from the pages of a horror novel. That is epidermolysis bullosa (EB). I knew nothing about it until 2009 when my son Jonah was born. After having already lost one child to stillbirth at 37 weeks, I was anxious my entire pregnancy with Jonah. I was told that what happened to Gabriel, our first son, was just a fluke. “Everything will be fine,” people told me.
I had a hard time believing them. I didn’t want their trite words and empty promises. I wanted a healthy child. I wanted normal. Every night I begged God to let him live. I had no reason to think anything would be wrong, but I had no confidence that things would be right either.
The doctors induced me at 37 weeks, so on that Friday morning in February, I went into the hospital, scared but ready to have my baby. At 3:50 p.m., Jonah was finally born. But everything was not OK. As I was pushing him out, I remember the doctor saying, “He has a little blister on his lip.” I also remember distinctly thinking, “Who cares? Just get him out!”
But when he came out, it was more than one little blister. My Jonah was missing the skin from his knees and elbows down. He had other lesions scattered all over his body. He looked like he had been put into a fire and then pulled out. His hands and feet were so red and raw. I had never seen anything like it. And neither had the doctors.
Within a matter of minutes, the room was filled with doctors and nurses gathered around his isolette in the delivery room. I held him for only a few seconds. They had wrapped him in some kind of plastic.
“Is he in pain?” I asked as he screamed in agony. “Yes,” the doctor said.
“Then take him. Please. Get him help.”
Within the next couple of hours, he was transferred to our local children’s hospital. They rolled him out of the room. “Go with him,” I sobbed to my husband.
My husband, Matt, went with Jonah to the neonatal intensive care unit at the children’s hospital. He called me a bit later and told me that an older doctor there was 99 percent sure that Jonah had something called epidermolysis bullosa. “He could die from it,” Matt said. “There is no cure.” That doctor had seen a few cases in his lifetime. Only a few. For most doctors, their knowledge of EB is one line in their dermatology textbooks.
Epidermolysis bullosa is a very rare genetic connective tissue disorder. There are many different types with varying severities, but all are characterized by very fragile skin that blisters and shears off. In Jonah’s case, that happens with the slightest friction. He blisters internally as well, has lost most of his nails, has alopecia, and his teeth are affected. EB affects one newborn per 50,000 live births in the U.S. After several weeks and two specialized biopsies, Jonah was later diagnosed with junctional epidermolysis bullosa. His body does not produce enough collagen XVII. His specific type is one in 2,000,000.
Although some people with EB have only localized blistering, Jonah blisters everywhere — from rubbing or scratching his skin, from seams on clothes, from rubbing his eyelids, from nothing at all — and wears full body bandages from his neck down. The only treatment is wound care. We do bath and full body dressing changes every 48 hours.
This child, though, is amazing. He’s 11 now. And he’s smart and funny and resilient. His smile lights up the room, and his joy is infectious. There is so much to tell you about him, about EB, about our lives, about our complete lack of “normal.” It’s hard and frustrating, but it’s also beautiful and exciting. And I’m so glad that God answered my prayers and let him live. Because now I get to share the treasure that he is with all of you. And I’m so very grateful.
Note: Epidermolysis Bullosa Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Epidermolysis Bullosa Today or its parent company, BioNews Services, and are intended to spark discussion about issues pertaining to epidermolysis bullosa.