Epidermolysis Bullosa

Nine years ago our daughter Christina was born with an extremely rare genetic skin disorder called Epidermolysis Bullosa , or EB for short. EB essentially is a condition whereby these kids are born without a protein that all the rest of us have that allows us to absorb friction. Because of this inability Christina, and other kids like her, blister. She’s particularly susceptible on her hands and feet and walking in shoes is a big challenge. She can walk around the house pretty well, or in her classroom at school, but lots of walking is highly problematic. Places like the Mall or the Airport or Disneyland will probably always require her to be in a wheelchair. Fortunately, Christina was born with the mildest form of EB (simplex) and she’ll live a normal life span. I forget all of the time that she has a disability…mostly because she’s such an incredible pistol! Seriously, anybody we know that’s gotten to know her is always comes away moved by what a character she is. She doesn’t inspire alot of pity, that’s for sure!

Various groups connected to EB have chosen this time of year, and this week in particular, to raise awareness about this condition and thereby seek help in working towards a cure for it. Unfortunately, there are many kids that are not as fortunate as Christina is. Garrett Spaulding, pictured above, is a young boy who we know who suffers from a much worse form of EB (recessive dystrophic). Garrett’s skin is so very fragile that he needs to be bandaged head to toe 24/7. He blisters both internally and externally. Kids like Garrett often don’t live past their 20’s. I really want to express this completely without hyperbole…I don’t believe that there is a more horrific disease in this life than RDEB. These kids literally live in constant pain. It’s astonishing, yet to meet the Spauldings is to truly experience both courage and grace in human form. There’s a wonderful photographer by the name of Andre Hermann who took the picture above and on whose website can be found a photo essay about these folks. Just click on his name, then scroll over “portfolios” until you see the tab “stories”. Click on it and you’ll find more on Garrett.

If you would like to learn more about EB and maybe participate in ending this disease please click here:

http://www.ebkids.org/

If you happen to see a little girl dressed as an angel (completely out of character, I promise!) in a wheelchair at “safe streets” tomorrow night come on over and say hi.

Comments

  1. Craig Rubright says:

    Good morning,
    I would like to say it was a great article, and thank you for help bringing the awareness of EB out to more people.
    Now you may edit, censor, delete, or just not print anything I’m about to say., But every artical excluding one here or there always pertains to the “CHILDREN” with EB. What about the “ADULTS” that have it? Very rarely to you hear anything mentioned about them. You claim how bad all these kids suffer and in so much pain and the parents dont have the best insurance to cover all the needs for these kids. Only partial is covered by the insurance ect. You never once hear about the adults who been through the same situations as these children are, but didnt have the insurance or the technology or supplies that they do today. I’m 39yo/male who has RDEBnon-HS, and my family didnt have any insurance, or high paying jobs that could cover the expences or state or goverment health coverage that some of these kids have today. Since there were so few known cases of EB in the US and around the world that the ones who were known and tha parents allowed, were basicly experimental lab rats.
    Todays parents do not realise the harm they are doing to their children keeping them wrapped from neck to toe. By doing this, this prevents the skin to be able to breath, and the skin to sweat causing itching, in return the child scratches and forms new wounds/blisters. Or they come across with complaints of constipation with their children. Do they not realize that the pain medicine that they have their children on to “keep them comfortable” is a leading cause of the constipation. Also to mention about the pain meds is that one of the side effects to majority of them its an itchy feeling, that causes people to scratch. Well isnt scratching a major NO-NO for someone with EB. Also the parents don’t realize is the body needs sun light to produce Vitamin D that the body produces. Alot of these kids don’t get the alotted time outside in the sun to get the sufficiant amount that a person needs. And if they are outside long enough to “get enough sunlight” that the body needs. They still dont get because they are bandaged from neck to toe so how can the body be exposed long enough to get what it needs. Now I’m living proof that not limiting your children to certain activites, or keeping them wrapped head to toe or keeping them that sedated to feel no pain. These kids can lead a normal life. Do i get hurt? yes just like everyone else, if I fall bump, or scracth yes i always have that possibility of stretching or tearing the skin to form a blister or open wound. Am I in pain? Yes 24/7/365, I take Ibprofen or Tylenol for pain. If its to severe maybe a 1/2 of Porcoset. Do I wrap from neck to toe? Heck no. I just use Vasiline, gauze pads, bandaides, and tape. Yes you did read that right I use bandaides and tape to secure my bandages to my body. om occassions I’ll use a some stretch tube gause to hold it in place if it a high movement or joint area. Otherwise that is it. In the Spring/Summer/Fall weather permitting you would see me in shorts, and a tanktop out cutting the grass or out on the baseball field helping coach my step-sons basbeall team. I was a volunteer ambulance crew/firemen for 10 years, helped coach pee-wee/midget/knee high football, and yes i would be out there being rough. Did I get hurt?!?!? Heck yeah I did, did it stop me!?!?! Heck NO, I’d just bandage up and go on with my business.
    Sorry for the rant, and again if you want to edit, delete, reword, print this message you are more than welcome to. But you need to include that EB adults that have been down these roads that the children of today with EB re living and get their insight about everything as its not always just about the kids. Give praise to the adults that have defied the odds and lived well past thier “life expectancies” or concouring the “You cant do that”, label because we had EB. Show them some love on occassions, as it isnt just CHILDREN who have EB, its ADULTS as well.

    Sincerely,
    Craig S. Rubright
    (39/M/RDEB non-HS)

  2. Denise Haley says:

    I thought your article about EB was great and a good way to spread awareness of this terrible disease. What a handsome little boy Garrett is. I agree that there is not a more horrific disease than RDEB and I am glad that your daughter has the milder form. My little girl, Sadie, passed away in January of 2005 from JEB-herlitz. She was only 9 months old. With junctional herlitz, they do not usually survive for longer than one year of age. As horrible as it is to lose a child, I think it would be worse to watch them suffer and be in constant pain, as it is with RDEB. For this, I am thankful that Sadie was spared this life of pain. Anyway, thanks for spreading the word about EB. The more people become aware of this disease, the better chance we have of finding a cure. Hopefully one day soon.

    Denise Haley

  3. Jim Minkey says:

    Wow Craig! Thank you very much for your insight as well as taking the time to comment! You’re absolutely right too about EB adults being overlooked. I wish you all the best.

    Denise, thank you as well for commenting…so sorry about your loss!

  4. Wow Craig, I read your comments with mixed emotions. First off, let me say, I have a lot of experience with this disease. I am the mother of Garrett, whose picture is shown above, and I am a clinic coordinator for the EB clinic at Stanford’s Children’s Hospital in California. I have to say, I think you are right that there is not enough emphasis on how difficult, in so many ways, the road of EB is for adults (the few of you lucky, or perhaps mild enough to live an extended life span). I know that there are huge issues, especially when children’s government funding of insurance and other benefits are lost. Just finding doctors to take on such a challenge is monumental, I do agree. HOWEVER… I feel it is very bitter and unfair of you to make such blatant comments of criticism to the parents of RDEB-HS children or adults. You have stated that you have the non-HS sub-type. This you admit you DO NOT have!!! As I said, I am the mother of Garrett who is pictured above. I have tried to leave bandages off for even just short periods of time while he is sleeping and not in danger, but the mere friction of moving on a soft sheet, has caused him severe damage. I AM NOT EXAGERATING. Oh how I wish I did not have to spend 3-5 hours changing his full body bandages every other day. You do not have any clue as to how some variations of this disease can behave, (and there are so many degrees of severity). God bless you for being able to live to 39 years of age, and I wish you so many more years and hope they have a fine quality of life as much as possible, but please do not criticize and cast such a harsh judgment on me and other parents like me who are forced to be more aggressive in our care. I have watched several very young boys and young girls with my son’s form of EB, pass away over the past few years BEFORE even reaching the age of 20. I would hope that you might consider attending an EB support group meeting and meet some of these kids. You just might not realize what is under their bandages. I assure you their skin is NOT like yours. You are wrong! I wrap each of my son’s fingers and his hands to try to prevent him from completely loosing them to scar encasement that occurs with his type. I have seen what this disease can and does do. I don’t mean to be critical of you, but you obviously do not have the severe degree of RDEB that some RDEB-HS kids suffer from. Why on earth would you make such harsh criticisms? Oh BTW, I rarely give my son pain meds and encourage him to do everything he can. We live by a “Patch and Go” theory. Also, adhesives ABSOLUTELY DO lift his skin right off. He absolutely could never ever use a regular bandaide or tape!! I am glad that your EB seems quite manageable for you and wish you well. Keep some focus on the adults too, that is a good thing, but think again before you say such hurtful things to the rest of us dealing with a much more severe variant.
    Most Sincerely, Lorraine

  5. Jim, I’ve never heard of this disease … like most people I guess. Can Christina, and Garrett swim, play in the water? Are there no treatments for this? Let Christina know that we’re sending gentle hugs her way …

  6. Jim Minkey says:

    Thanks for the comment Gabrielle. Yes, swimming is great for Christina and we encourage her to do it as much as possible. Both chlorine and sea water have a theraputic effect on her skin. Needless to say she’s kind of a water baby. We’re hoping she becomes competitive with it…as in this area she’s completely equal physically to all of her peers.

    As for Garrett…I really don’t know. His skin is so incredibly fragile!

  7. Hoping they find a cure, Jim. You never know how lucky you are to be healthy. With all the worries in our market, they seem like little pebbles, compared to this disease.

  8. As Christina’s mom- i sooo appreciate the interest and response to this post.
    Precious Christina was awake, once again, in terrible pain last night. Sure puts other issues in perspective!!
    Craig- so very sorry adults with EB get disregarded. That said- I am friends with Lorraine and Garrett and have deep respect and compassion for what they deal with every day.
    Let’s all continue to pray for a cure for this disease!!

  9. Hello, My name is Misty. I am a 39 year old female born with EB, as was my sister, my brother, and my second child.
    In 1990 my father was put on a heart transplant list. A couple of months later, my brother Michael calapsed of Sudden Cardiac Death.Fathers doctors insisted on all his children getting tested for the heart condition.As it turns out, my sister, my son, and i all have this heart condition.We actually suffer from two different complications of the heart.One is ventricular tacycardia, a dangerous rythym and familia Cardiomyopath, a weakening and thikening of the left ventrical. Does anyone out there know if this is related? My father was never diagnosed, nor showed obvious signs of EB as a child, but in his 40’s to 50’s. He had several sqawmous cell carcinomas removed thru out the last 8 years of his life.
    We ( my sister, and i) don’t know what type of EB we have. Any answers?
    Thank you kindly for taking your time to read my note.
    God Bless all those in a search for answers!

    -Misty

  10. Hello Misty,

    FYI – there is Genetic testing available via a skin biopsy. Typically it is fairly conclusive as to the sub-type of EB. I would think this could be very handy in your case. Stanford does have EB doctors who deal with adult patients as well as children and they may also be able to answer some of the heart related questions you may have. The nurse for the EB clinic there is Lisa Taylor and she can be reached at 650-725-9961, although you may need to leave a message for her to return your call. Or you may call me at 650-804-4820. I am the clinic coordinator for the pediatric EB clinic at Stanford.

    Also as far as the water and swimming question – Yes, my Garrett does swim, actually we let him soak in a hot tub before each bandage change to help unstick the bandages, plus the clorine in the pool helps tremendously to lower his infections. He loves the water!!

    Best of luck to you all, Lorraine

  11. Oh, one more comment,

    To Leslee and Jim, thanks so much for all your constant support and compassion and hard work to help do so much for the EB cause. You two are champions to all of us who have to deal with this sad situation each day. You two are the best and your girls are adorable too :0)

    Love, Lorraine

  12. Hi, I am the mother of a 7mth old, named Katie,who was born with EB. After two skin bipsies and a lengthy stay in the hospital her dad and I found out that she had junctional EB. As I am typing we are currently in the hospital now due to our Katie not growing properly because her body is not getting the carolies and proteins that she needs. I thank you and all others for posting articles and pictures that I can relate to. These past 7 months have been a struggle but my Katie is a real trooper. I can agree with Craig on some of his comments about dressings and being able to let them breathe and get sunlight. Although I would like to say that what works well for some people might not work well for others. This has been a real trial and error process for me and my husband, but it has worked so far. My baby has not had an infection yet. Thank you for spreading the word about this disease. I would love to email the other lady that had the baby with EB please feel free to give her my email.

    Thanks Again
    Katie’s Mom

  13. Hi I didn’t want to read and not reply. I lost my little baby boy Curtis to EB in Nov, 2008. He had Junctional, Herlitz with Pyloric Astresia, apparently it is the worst one, he only lived for 10 days, and his skin was undescribable, and he suffered severe pain. I think the more we make this horrible desease know the more money we can get to help both children and adults suffering from it, I’m sure from simplex right up to junctional is painfull, I can’t even manage when I burn my hard from the oven or other. God bless all who are living with this and all who have passed, and hopefully a cure will come soon. I can’t get the ginetics out of my head for this – how can it happen it’s just weird.

  14. Jim Minkey says:

    Wow Linda!! Thank you so much for your comment. I noticed from your e-mail address that you’re in Ireland! Isn’t the world so much smaller because of technology? How great that we can support one another this way!! Take care Linda and may God bless you.

  15. Lorraine Saunders says:

    Hi there i have read all the articles with interest, and i feel so sorry for the children and adults with this awful disease. Not being able to enjoy carefree childhood and be in constant pain is no fun. Children with this disease can only dream of skipping and jumping and believe me i know what its like, for me and my daughter suffer from EB. We both must have the milder form of the disease, but we get blisters all over our badies including in our mouths. But as i have got older i do not let the disease control me. I do not say to myself i cant do this and i cant do that. I set myself challenges and i do my best to reach my goal. Believe it or not myself and my daughter do karate. Do we get blisters, yes sometimes we do. But i have a very understanding karate instructor. We do not do some of the karate bag work as this causes to many blisters. But other than that i do what all the others do. I am very pleased with myself and my daughter as we have nearly reached our goals. My daughter is a green belt in karate, and sometime next year i hope to take my black belt. I do suffer badly with the blisters doing karate, but i am not letting it control me. I want to live my life as normally as possible, if i have to do that covered with blisters and dressings then fine. I know that my possitive thinking has a lot to do with it, and hopefully i have passed that positive thinking on to my daughter. I hope there is a cure for EB soon. So chin up and keep thinking positive thoughts and dont let this EB get you down.

  16. Hi, I’m a 15 year old boy from nottingham and I also have this condition along with my 3 uncles, 1 cousin, my dad, my two brothers and sister , our symptoms are nothing compared to the ones shown on this blog but still even simple everyday tasks are sometimes torture. I find the worst part is having to avoid putting pressure on different parts of my body to escape tremendous knife like shocks that can make sufferers fall to the floor in agony. But by avoiding certain areas of my feet puts greater pressure on alternate parts riddling me with awful blisters all. Year round. Hope there’s a cure found soon as it has really impeaded my relatives from getting jobs insurance… And I know how hard disability grants are to get.
    Also someone mentioned that their family had heart issues aswell as eb. That’s what made me comment as the side of my family with the eb also have heart issues… Thanks, aidan.

  17. I have EB simplex with mottled pigmentation, 3 of my 4 kids have it. It is likely the easiest form to live with. I am 42 and it was harder as a kid, but living in a dry climate is definitely helpful to avoid the blisters!

    Here is my question: I am having adrenal issues and have had thyroid issues and was wondering if Addison’s disease is linked to EB?

    Other strange things only to my EB kids and me: we were born with our eyes partially shut and have Gastric issues, any input?

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