Our daughter, Makenzie, is diagnosed with Recessive Dystrophic Epidermolysis Bullosa (RDEB). RDEB affects approximately 6 newborns per every million born. It is also known as the "scarring type"; as Makenzie's blisters heal, they cause scar tissue which decreases mobility over time. Typically, blisters and skin erosions are present over the entire body, including the mouth and digestive tract.
At the simplest level, RDEB results from a mutation in the gene that makes collagen 7. Collagen 7 is the main component of structures called anchoring fibrils, which anchor the top layer of skin to the bottom. Without these fibrils, friction, or other minor trauma, can cause Makenzie's two skin layers to separate. This separation leads to the formation of blisters.
There is NO CURE for RDEB.
Our most effective treatment is to prevent friction and the formation of blisters, and to appropriately dress blisters so they heal.
Many of you have asked what you can do to help. We greatly appreciate your love and support.
We are fundraising for both Makenzie's current and future needs. Daily bandage and wound care costs total several hundred dollars. We are now a single income family, as Liz left her job to care for Makenzie. We are excited that Makenzie has been accepted into the University of Minnesota Masonic Children's Hospital, for an experimental Bone Marrow Transplant. Simply put, the transplant is the delivery system of healthy collagen producing cells into Makenzie's body. As she blisters post Transplant, those cells will be directed by her body to eroded areas, starting the healing process and infusing her skin with collagen producing cells. Over time, the hope is that Makenzie will develop collagen producing cells all over body, improving her skin's integrity and her overall quality of life.
This procedure is not FDA approved, thus the cost is high; depending on how Makenzie does and her length of inpatient stay, the transplant process averages 1-2million dollars. We have been blessed to have Makenzie's insurance companies pre approve her transplant, but anticipate out of pocket costs ranging between one to two hundred thousand dollars. As a family, we believe this is Makenzie's best hope for a "normal life", and we face the potential complications knowing that less time spent doing wound care, and more time spent playing, is a choice we are confident in. Makenzie has also dealt with several throats blisters and her first esophageal dilation, we want to give her the gift of eating for pleasure, and limit the horrible blistering that can occur with elimination of bowel movements.
The last 2 years have been an emotional, life changing journey, teaching us to fully embrace the statement "take each day as it comes". Nothing is guaranteed and treasuring the happy, positive moments is a MUST. Makenzie will face much adversity in her life, but she has proven herself to be a fighter capable of amazing things.
With your help and ours, Makenzie's dreams will come true. Our goal, our "dream", is that our beautiful little girl will live a life full of confidence and strength; most importantly, that she learns to own her disease and never regret it for one second. Instead of asking "why me", we will teach Makenzie to say "because I can".
Happiness is contagious, positivity is progress, and if we can make our dream for Makenzie come true, our lives will be complete.