Our journey with Epidermolysis Bullosa

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On July 15, 2011, my life changed forever. It was the day we heard the words Epidermolysis Bullosa (EB). Initially, I was ecstatic, because we finally knew what was wrong with my baby girl. She had lost fingernails and toenails; she had fungus growing from her ear and beneath her toe nails. She had a very painful growth on the upper part of her ear that was surgically removed. Apparently, the growth began with a tear in her skin and dried blood trapped had begun to calcify, underneath the newly healed skin. At the slightest touch, she screamed. It continued to get larger and larger, and it grew more painful. Her pediatrician was not sure where to send us or what to do. He treated the fungus, but not the growth. By the second month of sleepless and painful nights, I could not accept no. We finally received a referral to see an ENT. He was extremely knowledgeable. He diagnosed her in 15 minutes, and had the growth removed by 8 am the next morning. This was a day before she was 4 months old.

She was 6 1/2 months old when we received the diagnosis of EB. However, the more I began to learn about it, I did not like it at all. I googled EB, and the pictures on the website was just cruel and unkind. I grew more fearful of how our lives were going to change. I was afraid of the suffering that would come with this disease. The children on the website had large parts of their body missing skin. These children were bandaged from neck to toe. They fingers had fused together. I looked at my ‘perfect’ daughter, and I just could not believe that she could go from where she was to such severity. It did not seem right, and somehow cruel.

Meeting with our first dermatologist did not do anything to help ease my fears. I was crying and upset. I was not upset because of what my daughter was going through, because she was fine, especially after her surgical procedure. She was almost seven months, and we had only seen one blister, and we had not experienced skin separation. We had grown accustomed to an occasional toenail or fingernail coming off. It didn’t bother her. She had become more curious, and began picking at her nails. The warmer it got, her skin on her toes would shed very easily, but this was nothing in comparison to what the internet showed. This I could handle, but I wanted to know if this could get worse. The dermatologist felt that I needed to become stronger, because as my daughter began to crawl and walk, her skin would just separate and slide off, from her feet, legs, and thighs.

The panic sets in, and the waiting game starts. Shortly, after our conversation with the dermatologist, we experienced our first really bad episode. Her fingers on her left hand, at the creases, front and back, simply just opened up. They were swollen and just burst open. I did a minor bleach hand soak to catch any early onset of infection, then applied the required medications, wrapped her hands, and we settled in. She was still my happy little girl.

Here we are a year later, and the story, I have described above seems like I am describing someone else’s child. We have not lost a toe or fingernail. We have not had any skin peelings or blisters or tears. She is fine. We went to see the EB specialists in Chapel Hill, and they feel that we may have seen the worst of it. There is a EB type that can ‘go away’ after a year. It’s unbelievable, and for me a miracle. We are walking, have almost conquered running, and climbing like any normal 18 month old. She is doing so well that she has begun swim classes!

Because, I threw myself into the EB community, I have met some amazing mothers and fathers that are continuing the fight. One day they will experience the miracle of change and transformation. There are so many people who do not know about EB, and we would love for this to change. We want more fantastic doctors, such as the ones in Chapel Hill. We want to shorten the time it takes to receive a diagnosis. We had to do three biopsies, and they all came back inconclusive. We need help ensuring that bandages are available, medications are available, and easier access to mental help providers to help guide parents and the children, as they get older, through the emotional and mental toll EB places on a family. There is ground breaking work that has been done, and we want that to continue. Our community is really small, and we need help lessen the suffering of our kids.

Although, EB appears to have ‘left’ our lives, we will always be connected, offering support, either near or far.

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