Feb. 1, 2019
Posted by Christina Jensen
The following story was submitted by Kirk Brazeau in honor of Rare Disease Day. In this story, Kirk shares his family’s journey of receiving a diagnosis for their son, Archer, of Recessive Dystrophic Epidermolysis Bullosa (RDEB). Read on for a harrowing account on hearing about a life-changing diagnosis, and how the Brazeau family was able to overcome it through the power of hope and love.
On January 19th, 2018 at 3:24PM, our youngest son, Archer McCormack Brazeau was born happy, seemingly healthy and without visual complication in Toledo, Ohio. Just hours later, everything changed as we were told Archer had Recessive Dystrophic Epidermolysis Bullosa (RDEB).
EB is a very rare connective tissue disorder with many genetic and symptomatic variations. The prominent symptom is extremely fragile skin that blisters, burns and tears from minor friction or trauma. In normal skin, collagen VII forms the “velcro” that holds layers of the skin together. When a mutation occurs during gene encoding, the collagen is either diminished or absent, disrupting the body’s biological velcro, resulting in RDEB. There is no cure or treatment; only daily wound care, pain management and preventive bandaging are used.
Children with EB are often called butterfly children, with their skin as fragile as a butterfly’s wings. And much like butterflies, their lives are often cut much too short.
One year ago this past Saturday, I received my phone call of all phone calls. To hear my wife in tears, saying “They don’t know what is wrong” will be forever engraved on my heart. A lifetime of dreams died within that second, including the thought of “normal.”
It felt like I was adrift within the strongest of seas, with waves growing in each uncertain word that followed. To hear that my perfect little boy I had held so tightly minutes before faces a battle that I’ve never seen felt like the weight of a thousand worlds colliding.
Not knowing what to do or where to turn brought with it an indescribable level of failure, and with answers few, hope took on a new and daunting meaning. But at 4AM that same night while crying in my mom’s arms, was when I finally felt the true purpose of hope.
It felt as if I had been given a warm blanket amid a blizzard and reassured that the beauty of who we are is within the choices we make. There was no thought of running from but only rising to meet the unknown challenges ahead with hope as our spark.
Hope ignited itself through our communities being the muse; the community of those we know and those may not, those we see, those we admire and those we love. Every word spoken, message written, hug held and love shared, shows us that we now can turn to the countless lessons that others live each day…and learn, inspired to do more.
The lessons of love from family, the dedication of Debra of America and EBRP on the front lines of the EB battle and the inspiration of all who must face their unique fight lends so much beautiful motivation for Archer to meet each day with strength. These truly are the reasons that Archer smiles. We are so thankful to [these organizations], and so many who continue to show us the contagious hope that we need to #FightEB each day together.
As things progress, we fully understand that physically, this will most likely be the best it ever will be for Archer’s body. With this, we are trying to celebrate and enjoy as much as we can before consistent scarring and blistering really begin to take their toll. Trying to establish his routines with the “abnormal normal” that EB creates is always challenging. Each day presents something new, but he rises to meet each obstacle with a sage composure that reminds you of the heroic stories that last the test of time.
Armed with a such an awesome and expanding network of EB friends and new insights, we have continued to try and do what we feel is best for Archer and to help spur positive developments. We have been able to meet with some of the great EB minds, caregivers and providers on our path, as Archer has had exceptional care at C.S. Mott Children’s Hospital at the University of Michigan, the EB clinics at the University of Minnesota Masonic Children’s Hospital and Cincinnati Children’s Hospital. We are hoping to make the trip to Stanford soon, in hopes of fully learning all options available.
We are just beginning down the path of fully getting to understand as much as we can about Archer and EB, and we hope for the possibility of procedures, treatments and clinical trials that he may qualify for in the future– not only to help solve his, but also to contribute to the entire EB puzzle. The amazing care that Archer has received has connected us with several different EB resources across the nation and the globe, and we have been able to gain so much fortitude in being around so many champions of strength who are going through the same.
So many remarkable people in our lives have shown that no one does anything great purely alone. There is always someone or something that acts as a catalyst for greatness and convinces us that something isn’t impossible. That our goal can be reached. It can be surpassed. And it can become the rule and not the exception.
For us, this will be our first full Rare Disease day that we can be prepared for, as last year we had just come home from 35 days in the NICU with Archer.
We have learned that advocacy is one of the greatest tools in the battle against EB, and each person to read, share or speak of Archers story builds support that can aid in finding a breakthrough. It’s the spark that we need so much more than we let on; one that shows in our boys’ smiles, each one so genuine, unique and frequent that sometimes we even ask how we have been so lucky.
Among so many of the overarching messages that have shown through it all is that love always is, was and forever will be the strongest armor that we must have to fight anything of consequence. We each have something that we are grappling with, and none necessarily more important or severe from the other in many ways. Anything that causes us to worry, stress, change or alter our lives is important, no matter the stigma it may carry with it, big or small. Simply put, it all matters if it matters to you.
To wage conflict against such challenging obstacles requires an unwavering fortitude, one which will bleed into our actions like pride beats in our hearts. It consumes us, eventually bonding together all of what we stand for in order to welcome all the reasons we are each unique. Love ignites passion and sparks the fuel of character that we broadcast each day. And as we continue to learn with every breath, love is what we fight to have, live to achieve and ultimately, give to die.
To our family, NORD and its mission are so appreciated, respected and admired for the tireless work you do. Representing those who search for their voice during such testing moments is true valor and supplies so much more hope than you know! Thank you so much!