Annie & brooks: simplex

My son and I share a dominant and generalized form of EB Simplex. Growing up in the early 1980s, wound care was 100% trial and error as there was no family history with the disease and very little guidance. Knowing ahead of time that Brooks would be born with the EB in 2019, things were different. Much planning went into the delivery both for my care and his. Brooks was born at 38 weeks, a beautiful baby boy missing large patches of skin, and like me, mostly on his arms and legs. With the abundance of current resources and modernized wound care bandages, Brooks and I left the hospital after just a week and without any adhesive ever touching our skin. We both share a lot of scar tissue that blisters and tears more frequent, and also have difficulty with blistering under our finger and toenails. We continue to learn more about our specific variant, the KLHL24 gene mutation, and are monitored closely as it has a cardiac component. I was diagnosed with cardiomyopathy a few months before Brooks was born. We have this special bond that is unique to us, and he is the joy of my life. I can’t imagine not being his mom.

Until Brooks was born, I was not very vocal about my condition. Having EB is nothing I had ever been embarrassed or ashamed of but when people would ask if I had severe eczema, was burned or had poison ivy…I would simply go along with it. Now, I’ve become very comfortable talking about my EB and sharing the array of complications that have come with it: from having a squamous cell carcinoma removed from my hand in 2023 to wearing wigs due to hair loss. Brooks is benefiting from my mistakes and is already such a great advocate for himself, so relaxed talking about EB. When the school nurse calls me after she has had to bandage Brooks following an accident, she always comments on his positive attitude. Once stating “Brooks was his usual happy and helpful self and was just excited to get back to the playground.”

In 2021 we learned about the Plunge for Elodie and EBRP. We held our first satellite plunge in Greensboro in honor of Brooks that following year and have continued ever since with tremendous success. Being active in the EB community has made me realize that being open to talking about it and sharing our story is the easiest and most effective thing we can do to advocate for EB and ourselves. We have also been welcomed into a community we never knew we needed so much. Our lives are forever enriched by the experiences it has allowed us and through the people we have met, that we now consider family.

I’m so hopeful for what the future holds and to what a cure will look like, which will look different for everyone. We have not qualified for any of the approved treatments so far, but I am confident that it’s a when for us, not an if. In the meantime, the new advanced wound care bandages, wraps and ointments have been lifechanging for us. Our healing time has significantly decreased which has allowed for Brooks to be as active as any 5-year-old boy should be. We are dedicated to being a part of this movement and will continue to do our small part until there is a cure for all types of EB. My biggest hope is the ripple effect of possibilities for the rare disease community as a whole. 

​-Annie