Epidermolysis Bullosa (“EB”) and National EB Awareness Week

EB Awareness Week 2013

I have the worst disease you never heard of.

In 1976 I was born with Epidermolysis Bullosa (EB).  EB is a very rare genetic connective tissue disorder which affects 1 in every 20,000 births each year.  Children born with this disease are termed “Butterfly Children” because the skin is so fragile it blisters and tears from friction or trauma.  There is no cure or treatment – only management through daily wound care with protective bandages and pain management.  I do however consider myself one of the lucky ones, as children born with the more severe forms of EB live with disfigurement, disability and early death.  Some children pass in just the first few months of their lives.  At 37 I feel blessed to have lived the life I have, and seek to help educate the public about this disease as a tribute to those who have passed before me.

The last week of October each year is EB Awareness Week, so I am glad to tell my story here from the eyes of a son with EB.  My mother gave birth to her oldest child, a daughter, in 1968, but something was just not right.  Her skin was too fragile and it was tearing with the slightest touch.  As you can imagine, there was little known about the disease my sister had, and teams of doctors were called in from New York City to help with the diagnosis.  Junctional EB was the verdict, which is one of the more severe forms of EB.  This new mother was about to start her family with a very large hurdle.  She was told that the disease was so rare the odds of another child with EB was very slim so she tried to have another.  A second daughter was born in 1972 and perfectly healthy.  Encouraged by this she tried for the boy that she had wanted and I was born into the world in 1976.

All seemed well at first and the doctors were sure that I had escaped the clutches of this genetic condition.  After a few days I was released from the hospital with just a small blister on my rear end which the doctors said not to worry about.  Shortly thereafter the cruel reality set in for my parents that the disease had not in fact passed me over.  Two children under 10 with a disease so rare there were no treatments only tips and tests from teams of dermatologists and research groups.  Depression, sadness, self-pity, and blame were the overwhelming emotions that my mother had felt during these early years.  Mainly because she had tried to have more children and put those lives at risk.

This is however the story of a disease that made my mother the strongest woman that I know.  How she dealt with parenting a child with issues no other parent she had known before would have to deal with.  The unknown future of her children’s lives and how she could make them as normal as possible.  Thinking back this must have been so difficult for her with no support groups or internet chat rooms to help.  We made bi-monthly trips into Manhattan to visit DEBRA which is an EB research group formed to help patients and their families.  My sister and I were two of the first patients they helped and we are glad to give back now and help them.  They taught us wound care and helped my mother to understand how to deal with the painful ordeal of daily bandage changes.  Today it is an hour long process for me to get undressed, bandages removed, showered, and bandages reapplied.  Remember two children under 10 that needed this care each day, and it is painful. Imagine a mother that has to hurt her children for two hours each day, and the guilt she must feel.

My mother was strong and she made us stronger.  We were extremely loved but not coddled or treated like we had a disability.  I remember her telling me I didn’t have a disease and it was just a skin condition and to keep fighting and not let it get me down just because I was different.  How was she not crushed when I came home asking to try out for football with the rest of my middle school friends and she had to tell me no.  Or when schoolmates would bully me which seemed to be a daily occurrence when you are different, and she had to talk me into going back to school.  Her strength made us stronger and able to cope with now common issues in children with a very uncommon cause.

I wanted to take the time to write this to help raise awareness.  The ignorance towards this disease is still evident in my life today.  Just a few short years ago while on a business trip I was asked to leave a hotel because my wounds stained the sheets and the hotel staff was uncomfortable.  Myself and the families of those also affected by EB ask for your help to raise awareness.  As mothers you may have a child with EB one day or at least meet someone who does.  A schoolmate of one of your own children perhaps.  If I can help educate you on the pain and the struggle that a child with EB has to endure you might be less likely to treat them differently.  You can help your children better understand the disease and how they shouldn’t be afraid.

DEBRA is a great resource for patients, families, and friends.  Please go to DEBRA.org to learn more about EB, and help make a difference.  You can also follow them on Facebook, Twitter, and YouTube.

 

Comments

  1. 1

    Thank you for bringing awareness! I’ve never heard of this before. I cannot believe you and your family were asked to leave a hotel. Very wrong and ignorant.

  2. 2
    Lisa Anfield says:

    I am 39 years old w/ EB Simplex. I get it mainly on my feet n sometimes hands. Anywhere friction occurs. When I was a kid n couldn’t walk cause my feet were sore I’d crawl and get them on my knees. My 2 oldest children {18 and 17} have EB Simplex as well. My youngest child missed it thankfully. I can relate to this mom only its worse being a mom w/ the disease. You know the pain they feel emotionally n physically. You know what their going through n it breaks my heart thinking they got this from me. Taking care of 2 kids w/ EB was hard especially when your own feet were sore. Thankfully my husband was there to help. It broke my heart as well when my son asked to play football in middle school n I had to say no. It kills me still to this day. I try an educate his school on the disease as I was frustrated after hearing the nurse question the disease n not understand. People need to know…. EB no matter what form is painful physically AND emotionally. I live w/ guilt that I had this disease knowing my kids had a 50/50 chance on having it too. EB runs in my family as my dad, sister, uncle, grandmother etc. have it as well. I just pray for my future grandkids there’s a cure found soon.

  3. 3

    I have never heard of this before. What an amazing woman you mom must have been. However, I am completely disgusted that you were asked to leave a hotel. That just hurts my heart!

  4. 4

    Thanks for the information. I have never heard of this condition before. It’s always good to be informed.

  5. 5

    I have never heard of this condition probably because it is so rare. I’m so sorry and can’t imagine how to deal with something that sounds so painful and difficult to deal with on so many levels. I will also pray for a cure.

  6. 6

    Oh wow. You are right – I had never heard of this disease! And I can’t imagine your mother having to deal with it with two young children. Thank you for sharing!

  7. 7

    I never even heard of this before. I’m so sorry you have to deal with something like that. You are very strong! Thanks for sharing your story!

  8. 8

    I am 46 year old white male born with EB simplex. I feel fortunate in some ways because I was able to lead a fairly normal childhood. I played most every sport with the exception of football although I even tried tjat for a half of a season until the blistering from the shoulder pads and pants were too much to bare. There were times i would come off the tennis court and my hands wete covered in blisters and the next day i could barely walk because it felt like i was walking on hot coals (actually they feel like that frequently)I would have never learned how to swim had it not been for my parents buying a house with a pool becausr I wasnt allowed to swim in a public pool. Kids can be cruel but adults can be more cruel. To this day every doctor I have seen and i saw a lot in the ’60s and “70s were fascinated with the disease almost to the point where i felt like a guinee pig until my parents said enough. This disease affects you physically, emotionally and mentally. It has also taught me to be compassionate towards others. I love dogs because they are the only creatures on earth including people who truly give you unconditional love.

  9. 9

    Wow I cannot imagine what it is to go through this. Never heard of this condition, but like any condition we can just pray that it gets better.

  10. 10

    wow I didn’t even know what this was! So important to create awareness! Thanks for sharing!

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