IrefuseEB.org founder Christie Zink recently took part in the #stopEB campaign and we are happy to help Autumn Stone in her efforts to raise awareness and research funding to help #stopEB.
What EB Means to Me
Epidermolysis Bullosa is a connective tissue disorder in which the skin blisters and can peel off from a simple minor injury or something as simple as touch. EB, to me, is the heartbreaking story of a mother having to watch her precious baby deteriorate. A father not allowed to throw their child in the air. A family so focused on taking care of their child affected by EB that they sometimes don’t give enough attention to their other children. EB is expensive. In all senses. It is financially and emotionally draining for the entire family. My brother suffers daily from EB Simplex that did not appear until his teenage years. My aunt died in the sixties from Herlitz Junctional EB, it was referred to as Lethal EB then. My grandmother managed to keep my aunt alive for 6 years. She lost her eyesight. She had no voice. She weighed 15 pounds when she got her wings. She was not supposed to make it past a year maximum. But she did.
Sometimes you need someone, somewhere in the world to relate to your situation and give you a little hope. The support from others can make day by day life a little easier, lighter. To know that you are not carrying this burden alone, makes it somewhat less heavy. There have been so many people from all over the world joining in with their pictures of their hands with the letters EB on them. It has been a beautiful thing in the EB community to feel so joined together.
I started this campaign because I was told not to have anymore children. I was told to abort my son. I am a carrier of Herlitz Junctional Epidermolysis Bullosa. When pregnant with my son, I had genetic screening done and there was an extremely high chance that my son could be born with HJEB. I visited the high risk doctor and genetic counselor and they advised that I get some extensive ultrasounds done, and then suggested amniocentesis testing. I was not comfortable with the risks of amniocentesis, or hearing that he was certainly affected and being told to make a choice of death or death in a year, so I chose to carry my son to term not knowing if he would be affected by EB or not. But praying constantly that he would not. He isn’t. I do not personally have a child with EB. My daughter is a carrier with symptoms like some pitted nails and dental hypoplasia, she is having her top four front teeth pulled and two molars crowned a week from today actually under general anesthesia. She is only two years old. She will always have her manifestation of this disease.
My dream for this campaign is that twenty years from now my children won’t be sitting there typing what I am today, only to go through what I have gone through. I am getting my tubes tied. I am 23 years old. I have beat the odds twice with EB and I cannot fathom risking the chance of having a child affected with HJEB. I can’t put my other children through that. I can’t put my husband through that, and I can’t put myself through that. Knowing that the odds are against me, it would be a horrible thing for me to try to have another child. No matter how badly I would love to have a big family, EB won’t allow it. EB is not fair.
EB does not discriminate. EB can be dominant, it can be recessive, or it can be a spontaneous mutation. It can be mild, it can be severe, or it could be lethal. I grew up looking at photo albums of my aunt that passed from HJEB and I remember crying as a little girl, looking at a bloody, blistering baby girl’s photos and feeling compelled to help her. I could not help her, but maybe I can help others. For all of the families with relatives that have passed due to EB, live with EB, or are risking a pregnancy that can end with EB, I pray for you. I want this to end. I want these precious butterflies to stop suffering. I want the family members to stop crying themselves to sleep knowing that there is no cure, and I want science to know that we are done. We are done with EB. We want it to go away and never return. We want to #stopEB!