Hope

Epidermolysis Bullosa and this HEAT

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Oh my goodness, this weather is horrendous. Today, we have very high ozone levels in Charlotte. It is pretty severe. Last summer, we experienced our worst time, with my daughter’s health, which lead us to her diagnosis on 7/15/11. The palm of her hand had developed third degree blisters, within minutes, and we didn’t know why. She was screaming and crying, and in my mind, in horrible pain. By the time, we got her to the emergency room, we were immediately admitted, because (1) she appeared to have been purposely burned, and (2) this was our second admission for weird problems that were not normal or natural. Their first thought was to rule out child abuse, which is the worst thing ever to go through, even if mentioned as a protocol.

IS IT CANCER?

Because this was not our first time at this pass, I was ready to ask more questions, without sobbing uncontrollably. My worst fear was that my 6 month old had some form of weird cancer, and they were having a very hard time diagnosing her. I had begun mentally preparing myself for the absolute worst. This time, when the same inpatient pediatrician had come in, my baby was playing happily and was very content. Her behavior was normal. She was playing with the big ‘bubbles’ that had formed in the palm of her hand. I said to the doctor, we have been here so many times, we are seeing her pediatrician 2 and 3 times a week and that alone should let you know that my daughter is not being abused. My husband and I are bringing her to you, we are not hiding in the shadows. Therefore this time, I need for you to think like a doctor; I need for you to become nosy and inquisitive; become the researcher you were, when you decided to become a doctor. What can cause blisters that look like a third degree burn without pain? She is clearly not in any pain, at least now she is not. If it was a true burn, she would be hollowing now. I need for you to think. What can cause this, simultaneously, without an obvious reason?

She said she understood, and will make some calls. She was going to finally speak with a dermatologist, because whatever problems my daughter experienced related back to her skin. She came back, after speaking with a dermatologist and said that Gabriella may have EB, but the dermatologist needed to look at her himself. He came in later that night, and sure enough that’s what he felt was her diagnosis.

OH MY GOODNESS, IT’S THE HEAT

About two weeks later, on her other hand, her fingers had begun to swell, and then they just burst open, at the creases. The front and back creases on her little fingers were open. You could look down, and see her meat. We were being hit with a tsunami. It was so frightening. We did not know why she was suddenly getting so bad. This had never happened before. I didn’t find out until December 2011 that it was the heat that had wreaked havoc on our summer and my daughter’s skin.

After joining the support group, mid-August, my daughter had begun getting better. The fingers opening at the creases never happened again, nor the huge blisters. Her new finger and toe nails grew in properly, and had not fallen off again. Usually, they would grow back, and fall off. We had stopped seeing red spots on her fingers and toes, which was our signal that there was some irritation. The skin on her toes stopped shedding. July and August were the worst months, and then it was just over. It was like a bad dream, not our reality.

We went on to do three biopsies that came back inconclusive. The EB specialist in Chapel Hill, finally said to us that we may have seen the worst of it. He advised us that there is a type of EB that has a life span of only one year, and Gabriella my have just went through it, although the chances of that is as rare as the disease itself, but possible. He felt confident that we were probably not going to have any more problems, but still to check and protect her skin. If there were any more abnormalities to come and see him immediately. He also said that next summer will let us know if she has seen her worst. That’s when the dots connected that high heat (summertime) causes huge problems for EB children. It’s when they suffer the most. Wintertime is when the skin heals mostly, even in the worst cases; if there is a problem, they are not as severe as it would normally be in the summertime.

OUR PROTOCOL

We finally have a fantastic pediatrician, in Charlotte, that I am confident can handle any issues that may arise. Now, if she does not remind me, I go about life with my baby, without a thought of EB. However, she had to remind me last week, it’s getting hot. So, let’s make sure she has sunscreen, and bug spray that is deet free. However, do NOT take her out in the highest temperature, and if so, only if necessary. Make sure she has thin socks that will protect her from frictional rubs, in her water shoes or crocs. No, we do not wear any pair of shoes; we need breathable cloth shoes. or crocs,which are perfectly ideal. However, I found some cute water shoes that some EB children favors, at Target. I really like these, because she can run in them. She has also outgrown her bucket hat from last year, and I found a replacement at Wal-mart last week. With my small efforts to protect my baby, we are doing just fine. We are approaching our one year anniversary to this diagnosis, and it is hotter than it was last year, and I am thankful to say, so far so good.

There are other things that I still do as well. She only wears 100% cotton. I have found that other materials irritate her skin. She is moisturized from head to toe, after every bath. Every morning, regardless of the weather, I still check her hand and feet for any blistering or shedding or redness. I guess old habits are hard to break, huh? Nothing is certain, but God, so I pray, check, and keep moving. We are no longer held hostage to this disease.

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.