Rare Disease Awareness - Post 6

Other random tidbits and facts about Epidermolysis Bullosa (EB)

So far I’ve tried to share some of the major characteristics and implications that EB has on our daily lives. It’s proven quite difficult to put into words all that our journey entails. There are a few other pieces of information I’d like to share that aren’t long enough to warrant an entire post, but they are still an important part of the story to tell.

Skin Sensitivity – As you now know, someone with EB can sustain a tear, cut, or blister of the skin from everyday activities and minor movement. Just two weeks ago Graham simply rolled over from his belly to his back during an OT session and sustained four little cuts on his cheek. Four! What’s also so interesting is that any loose hairs on Graham’s skin can become embedded. If Carl or I don’t see these stray hairs when we are inspecting his skin, they work their way under the skin and actually get buried in. Eventually, with a warm compress/bath, they do work their way to the surface again, but many times removing them tears off the layer of skin still on top. I think this helps put into perspective just how sensitive the skin of someone with EB can be. In fact, children with EB are referred to as butterfly children as their skin is compared to being as fragile as a butterfly’s wings.

Mouth Involvement – I mentioned in a previous post that EB doesn’t only affect the skin, but also internal organs and mucous membranes as well. The mucous membranes in Graham’s mouth are affected and he will get blood blisters on his inner cheeks, gums, lips, and tongue as well. Unlike the skin blisters, it is not recommended that we lance the blisters in this area. They eventually pop and drain on their own. Somehow, this has never stopped our little trooper from eating his bottle or pureed foods. There have been times where he has had half-dollar sized blood-filled blisters on his tongue and he still eats and drinks. (He’s a foodie like his Mama!) When the blisters in the mouth heal, they leave behind white granular healing tissue that usually takes a few weeks to fully mend.

Acid Reflux – Acid Reflux commonly occurs in individuals with EB. We first noticed that something was off when Graham was only a few months old. Feeding time became a huge stressor. Carl and I could tell that Graham was hungry as he would quickly begin eating from the bottle, but he would then almost instantly scream and cry. We would take frequent breaks while feeding him, we would walk and bop him all around the nursery, playing him different songs, and trying to soothe him. I think if someone told me I had to stand on my head and try to juggle with my feet - I would have tried that too. I was so stressed because I know that a reality for many people living with EB is getting their nutrition via a tube feed. Obviously, if this is ever indicated for Graham we will do whatever is best for him to get fed safely, as fed is best. But, I think it’s an innate feeling a mother has, to want to feed her child.

Food is such a big part of life when you think about it. It’s something to look forward to, something to enjoy. Food is often the center of social situations and at the heart of family traditions. I would really love for Graham to be able to enjoy this part of life with us. Thankfully, with the help of his pediatrician and a very good friend who kept pushing me to trust my instincts and keep calling the doctor back when the crying didn’t subside, we identified the root of the issue. He is now on a prescription acid reflux medicine that is making all the difference!

Graham's Right Foot - Perhaps unrelated to EB but just another little factoid - Graham’s right foot is smaller than his left. When he was born his right leg and foot were the most severely affected part of his body. That right lower limb was missing skin, was red and raw, and very closely resembled a bad burn. It has healed immensely although the texture of that skin is a bit different, almost glossy and harder to the touch. I’d say that foot is about 2/3 the size of his left foot. He’s had x-rays done and there doesn’t appear to be any leg length discrepancies or other bone abnormalities, so that’s a relief. We will just monitor it as he grows and gets older.

Long-Term Complications - The type of EB that Graham has is called Recessive Dystrophic (RDEB) and it’s one of the more severe forms. Due to the progressive nature of this diagnosis, there are many long-term complications that can arise. The severe scarring from chronic open wounds can lead to reduced mobility caused by joint contractures. Some people with RDEB require the use of a wheelchair as the disease progresses and mobility becomes more difficult and painful. The repeated scaring can also cause fusion of the fingers and toes, referred to as mitten deformity. Eye inflammation can also happen which can lead to significant vision loss. Also, individuals with severe RDEB are at an extremely high risk of developing a form of skin cancer called Squamous Cell Carcinoma. This type of cancer is very aggressive and often life-threatening.

We didn’t initially know the type of EB Graham had. It takes a while for the genetic testing results to be computed and analyzed. We found out almost 2 months after he was born that it was in-fact RDEB. When this news was delivered to us, the doctor let us know that Graham’s life expectancy could be reduced.

I share all of this information not for people to feel sorry for Graham, but just to help you understand his battle. I’ll be honest, I debated sharing some of this... but my goal here is to paint the entire picture of EB as best I can... to educate and advocate. If I left out some of these very significant details, I would not be doing justice to the entire picture. I am sharing these posts so that everyone can understand why a cure is so desperately needed - not just for our sweet Graham bug, but for all individuals living with EB. They need a cure and they deserve a cure. And you bet your bottom dollar that Carl, myself, and all of our family, friends, and loved ones who make up Graham’s GREAT GANG will not rest until that cure is found.

It’s easy to get overwhelmed with anxiety when making speculations about Graham’s future and all of the unknowns. But, science is amazing, so many research studies are currently being done, and God is good. We do our very best to try and remain in the present and take one moment and one day at a time. We have hope and faith that Graham will one day see life without EB, and that day will be one of the sweetest of them all.

"You don’t have a right to the cards you believe you should have been dealt. You have an obligation to play the hell out of the ones you’re holding." --Cheryl Strayed

#thisisEB