Elisa is my third daughter and she was born with Epidermolysis Bullosa (EB). She has a severe form of the Recessive Dystrophic form of EB . What is EB? The scientific answer is: “a genetic disease where the lack of collagen VII (the glue for your skin) causes the layers of skin to not adhere to each other and form blisters”. The truth is that EB (in severe forms) is a long, terminal disease. Yes, because no matter what you do as a caretaker of someone with EB, after years, or even only a few months of every day suffering they die. So, for a parent, in my case a mom, how am I suppose to wrap my head around the fact that I am going to bury my daughter? It is just the most unnatural thing that a parent can think of. My Elisa, has an inexplicable severity in the mucosal membranes (the whole GI tract), so no matter how careful I can be or how meticulously I bandage her, I cannot prevent the internal blistering. At only three months she already had been in the ER two times for two episodes in which she nearly suffocated. Daily, painful dressing changes of an hour or so to wrap every single blister and to separate fingers and toes or they will fuse together; dreadful baths where you have all her body exposed and the fear of sheering the skin off; constant itching due to the deterioration of the nerve endings because of the inflamed wounds; chronic not healing wounds, to disinfect constantly to prevent infections; eyes blisters and or abrasions, and much more….this is the daily life of an for someone with EB. For the first six months of her life I didn’t know how I would have survived, how my family would handle the whole thing. Elisa’s sisters (Greta 6 and Stella 4 ) could not cuddle her, play with her, feed her and could not understand why. All of your plans, dreams, and routine are broken. We can’t go out all together, we can’t bring her to crowded places if she has wound on her face, the ones that you can’t cover and inevitably, the family gets split. You try to keep spirits high, you keep reminding yourself to live day by day, enjoy every moment. Then you wake up in the morning to the same “groundhog day” and you see your daughter sleeping in a pool of blood and fluid from a blister in her mouth and or esophagus and you are actually happy about it because it means that it popped and she didn’t suffocate while sleeping. Then you start all over again, your EB day. Now, you can get Freud as your shrink but, really, can you get used to all this? Or to the idea of seeing you child suffer day and night and knowing that the end of this will be only when she dies?
No, that is my answer. I can’t. I chose hope, hope that here is someone out there that could change things. And I found that someone. We met Dr. Tolar and our life changed. He is conducting a trial for who suffer from EB. The idea is to give the patient healthy stem cells from a donor in the hopes that these cells will go and fix the wounded sites and produce the missing collagen for a healthy skin. It is not a cure but, in cases like Elisa could improve her condition and give her a life that she would not otherwise have. We decided that we would not watch Elisa suffer the few years of life that she had in front of her and try to make her life better knowing that there were risks, or that she could not even make it. But, did that really matter? She gave us the answer when she became so sever that needed an esophagus dilation almost every month. At the age of 16 months Elisa underwent the bone marrow transplant at the Children’s Hospital at the University of Minnesota. Dr. Tolar has been on her side since she was four months old and we prepared her as much as possible for this “system reboot!”. We are now at day +180 and her life has already changed. There are no dressing changes anymore, and all the chronic wounds are healed. Hands and feet are always exposed and she can now touch mommy’s face, and grab a balloon or anything that she could not do with gloves. She does not itch like before, only when blisters are healing. Yes, she still gets blisters but they are smaller and heal in a matter of days. She had few complications from the transplant that we needed to address and we are still dealing with some side effects from the drugs. It is a long recovery process but she can now sleep through the night and she is happy almost all of the time. I don’t know if she will make it, we are still in the process of fixing things. What I do know is that she, among others, have been part of the cure for EB. Anything we have gained, anything we have learned with Elisa’s BMT will not only benefit her, but also those that will follow. When Dr. Tolar finds the cure it will be because of Elisa and all the other children that underwent this life changing transplant. My only hope is that it will come soon enough so that she could live the rest of her life without EB.
-Gabriella, Elisa’s mommy