You Know You’re An EB mom When…

Originally posted by Silvia on her blog:

  • Whendoc you know more than the real doctors do about your child.
  • When you consider internet friends you’ve never met to be some of your best friends.
  • When you think it’s a good day if you don’t see any blood.
  • When you get asked at least once a week if you are a nurse.
  • When your two-year-old knows how to pop blisters.
  • When you pack for a vacation and the first suit case is filled with supplies and equipment.
  • When you have a legitimate pharmacy in your kitchen and the pharmacist knows your name and welcomes you as if it was Cheers (Norm!).
  • When you constantly get asked “How do you do it?”, and you have no clue either.
  • When your neighbors must think you have an online shopping problem from all the boxes of supplies dropped by your door.
  • When you have your insurance ID number memorized.
  • When the secretary, principal and superintendent of your child’s school know you by name.
  • When you find little pieces of Mepitel laying around the house everywhere.
  • When you developed some serious muscles lifting the wheelchair in and out of the trunk.
  • When you realize you could get a job writing appeals letters to the insurance.
  • When your capacity for hope is bigger than anyone else’s, that you know of.
  • When you can hear your child calling you across the house, with dad snoring next to you.
  • When you make sure your purse has some extra gauze, scissors & syringes.
  • When your child’s doctors take orders from you.
  • When you consider a good day one that your child does not ask for pain meds.
  • When the school nurse for your other (healthy) children know who you are.
  • When you have to stop and explain the Medical Terminology you don’t realize you say to people that are unfamiliar with your child’s condition.
  • When you have more medical supplies than a third world country.
  • When you have lost count of the number of hospital stays, surgeries and procedures that your child has had and you don’t really care to know.
  • When every night you sincerely thank Heaven for allowing you to mother this child for one more day. You know the time will come when it will be over, and you don’t want to miss a minute of this wonderful, painful, challenging, inspiring journey. Because you know, better than almost anyone, how life can change in a moment, an instant, and how none of us are guaranteed a tomorrow.

Every EB patient is different… no, really!

When my son was born and later diagnosed with Recessive Dystrophic EB I thought the only difference with him and the other patients was the degree of severity. Actually, I take that back. I did not know there was a degree of severity either, I thought that, like most diagnoses I had known in the past, either you have it or not, like cancer. You either have it or not, there was no ‘worse’ or ‘better’ cancer, it just was. It wasn’t until my first trip to Stanford that the Doctor put a label on severity for me… ‘mild to moderate’ was his opinion. Oh… OK. We were happy with that, gosh, we don’t want to hear ‘severe’ ever. 6 months later, after Nicky started vomiting skin and blood and could no longer eat any baby food, he told us he had to ‘upgrade’ his diagnose to moderate to severe. Joy.

Even so, when Nicky was little, I felt that RDEB followed a specific set of guidelines, certain areas of the body were bad or worse depending on severity and that patients were all pretty much the same. I even said and gave advice I have since apologized for because I realized something that a lot of people are unaware of. Every patient is different. No, really!!! Each and every patient is different. They really, really are. I feel SO uncomfortable giving advice nowadays I rarely do it, and when I do, I do it only if I feel I can honestly contribute and truly help in some way. Oh, and the patient has to have at the very least the ‘same’ RDEB diagnose. I would not dream of knowing how to care for a Simplex/Junctional patient and I always refer those questions to other patients or parents with children with similar diagnosis.

So… how do these patients differ? I can only speak for RDEB patients, of course, but I noticed many differences, not only in the skin and how it heals and where the wounds are, but what matters to one patient that does not to another.
Some patients, for example, like to air dry their wounds, they feel it works better for them. Others simply need to be covered, end of story. There truly is no need to argue about it or tell a parent who does not wrap to wrap or the other way around it. Every patient is different. We know what works for us and that’s the way it is.
Some other patients are adamant in keeping their hands, some don’t. This is a very personal decision, to mock one for doing surgeries or to mock another for not doing them serves no purpose. We need to support one another.

Nicky with his chest covered and his high collar shirt :-)

Nicky when he was 2 years old with his chest covered and his high collar shirt 🙂

Here’s a personal experience. Nicky often gets kudos for having a neck and chest that is wound free. Of course I’d like to think I have something to do with that because when he was little I wrapped his chest a lot and kept his hair long (not too long in this pic, he was basically bald until he was 2, ha ha) so his head and neck would be protected by the hair. Furthermore, I would always buy him high collar shirts to protect his neck even more from any little possible injury. Little scratches can grow and become huge problems with EB as I found out early on. As he grew older, areas that never got wounds became a bit tougher, harder to wound. I don’t know if my protection techniques helped or not, but I’ve met many patients whose necks were one of their worse problem… but, unlike Nicky, can walk just fine. Nicky’s feet have been a big problem for him as long as I can remember. I tried every which way to protect them, but from the time he was 10 or so they got worse and worse, almost like a spiral. Once the got wounded bad it was the end of it. He can barely walk now and I have to help him most of the time.
I even met patients who can barely walk but can eat pretty good all things considered, and some that could not eat anything but walked just fine. Some patients do very well with g-tubes, for others it’s a nightmare. I remember meeting this fine young man, with beautiful, normal looking hands, who could not walk at all. Another who claimed he had no wounds on his body because he had mentally mastered itching. Another could barely walk, but went rock climbing. I met patients that can drive and others that could not even imagine driving. I even saw some patients with tattoos or piercings and others who would think these things are simply crazy talk. No, really, I’ve seen it all. Every patient is different, I can’t say that enough. Every patient is different!

So… next time you might feel the urge to judge, please remember this blog. Every EB patient is different… no, really!

Mom to 3 boys, 1 in heaven, 2 on earth. My first son Alex (whose demise is most likely EB related) was stillborn at full term. After a miscarriage, I had my second son Nicky, who has the Recessive Dystrophic form of Epidermolysis Bullosa. My youngest son, Connor, is 100% healthy, and I never, ever take it for granted. I am an author, photographer, graphic artist, webmaster, blogger and more.

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What Do You Do?

What do you do when your child with EB becomes a teenager with EB and starts asking you the really hard questions about life?

When my son was small I could gloss over the answers with a positive saying or a humorous comment. Not so as he becomes a young man and wants real answers to real questions.

Matt’s 14th Birthday

What do you say to your teenager with EB when he asks more than once what I would think if he joined the middle school football team. When he was younger a “maybe someday” would rest his soul but not anymore. The first few times I kind of changed the subject trying to buy some time for myself. Then I am finally honest and tell him that he would not make it through one practice because of the friction from the pads and all of the running. This while trying to minimize the excitement I see in his eyes because he really seems to think that playing is a possibility. He looks at me and realizes he finally got an honest answer and says “I know I can’t play but I just wanted to hear it from you”. I cry inside but manage to smile at him.

What do you do when after your son’s orientation for middle school the football coach is standing behind us and asks if your son wants to play? My son was in seventh grade and almost six foot tall. My wife and I talk to the coach and tell him about my sons EB. We listen to the coach talk about my son being an assistant coach, “his right hand man”. The excitement builds probably even more for me then my son. He may actually becoming a real part of something, being accepted finally!

I go to pick him up at the first home football game. I see my son in the distance holding the down markers, this is all he ever does for the season. Not that he minds me loves it. What I did realize is that the coach was just blowing smoke at our first talk and the reality is my son is included but only at the farthest edge and this makes me scream inside. I thought it would be different this time. A new start in a new school but the reality of my son being on the outside is again in front of me.

My son has Dystrophic EB according to several biopsies done in his first couple years of life. I never really felt knowing which strain or sub strain would make any difference. He has EB, there is no cure and that is all the reality I needed to know. He mainly gets blisters on his hands, feet and thighs, some deep, some not. He is not severe as some but it still leaves him with a very painful, very unsure and very not normal life.

What do you say when your teenage son with EB asks you if he will ever have girlfriend? What can you say when he says he will probably never get married and can he live at home as long as he wants to? I ask why wouldn’t he get married and he says “you know why”. I am still trying to find the right answer for these questions. He recently went to a teenage group at a church and a man was giving a talk to the kids. He said the man had what looked like a hole in his head and a scar going down his face. The man was talking about his wife and my son said this man gave him hope because if this man found someone maybe he could to. Is this really what my beautiful boy sees himself as? He also already thinks that if he did ever get married he would adopt a child so his child will not have EB like him.

These are thoughts much too serious for a boy so young to be thinking about, much too serious to even be laid on a young boys heart and mind. The teenage years are hard enough to go through when you are “normal” let alone with a horrible disease like EB.

Yet with all the despair, sadness, worries and abject fear I feel for my son’s future, the son that I fear for brings me hope, a kind word and always laughter. I marvel at his courage, perseverance and strength. Instead of teaching him, he teaches me more. There may never be right answers for these hard questions but maybe just trying to answer and being a shoulder to cry on is answer enough.

Robert Turowski

Bob Turowski lives near Cleveland, Ohio with a wife and two children. Younger son has EB and older daughter is EB free.


A Journey Into Motherhood

From the book “Living with Epidermolysis Bullosa” (ONLY $2.99 for the Kindle!) This story was written in early 2007. Nicky is now nearly 16 (his birthday is in late November). Follow Nicky’s Caringbridge Blog at (you need to log in to view it, but it’s free).

A Journey Into Motherhood 

By Silvia C.

California, USA

     Silvia C. Is the mother of Nicky, a 10 year old child with Recessive Dystrophic EB.  Silvia lost her first baby at birth, Alex, most likely from EB, although it was not diagnosed at the time. She also has a healthy 3 year old little boy, Connor. Her story highlights her losing Alex, her struggles taking care of Nicky, things she wishes she would have been told at birth and how her life has changed.


       The story of my Journey into Motherhood and finding out the devastation that is EB didn’t start when my son Nicholas was born in November 1996, but rather, 21 months earlier, on a sunny and warm day in Phoenix, Arizona, when my first baby, Alex, was stillborn at full term. However, I will never say that March 1st, 1995 was the worst day of my life, it was, after all, the one and only day in my life that I saw and got to hold my precious baby, one I will hold in my heart forever.

Alex was my first baby, my now ex-husband and I were extremely excited about this baby because we had waited several years to start a family. I remember vividly, as if it was yesterday, that feeling of ‘something is wrong’ when I woke up on Monday, February 27th, which happened to be the day after I was due. I called the Dr and I went in with my mom to check things out. I will never forget what the doctor said while she placed the Doppler on my stomach: “Common Kido, don’t worry your mom!” I noticed that the Dr a hard time finding the heartbeat, she then asked the nurse to bring in the ultrasound machine; at that point we were all staring at a baby that wasn’t moving, no heartbeat, no nothing. He had died. The doctor could not give me any answers; she said we would have to wait to see the baby before a reason could be determined.

They sent me home to talk to Nick, and to decide what to do; only thing, Nick was at work. So that’s where I went. I remember waiting for him at the receptionist desk; I had no idea what I was going to say to break the news. He came down the corridor with a big, big smile on his face, he thought we came to visit him to go to lunch together, but his expression turned quickly once he saw my face. He was worried instantly. “What’s wrong? Tell me what’s wrong?” I rambled something to go outside with me and once there I told him that the doctors couldn’t find the heartbeat, the baby was dead. “Why?? How?” Answers I didn’t know, what they told me at the perinatal office is that at this late stage it was most likely a cord accident, but we would have to wait to find out for sure.

That was indeed what I consider the worse day of my life.  I shed more tears that day than the previous ten years combined. Nick went home with me, and from there we called the doctor to schedule an induction. I would have to wait that whole day and that following night before I could go in. I was in labor for 18.5 hours, 3.5 of those pushing; it all seemed like such a cruel joke. When he was born the doctor told me that Alex had the cord around his neck, which made it obvious it was a cord accident, but she was not convinced since it wasn’t really that tight around his neck. What I did notice is how Alex’s skin was peeling off all over his body. It was literally coming off in sheets. The doctors thought nothing of it, they told me that it is ‘normal’, and that the first thing that ‘goes’ in a stillborn baby is the skin. While that is true, I am still to see a picture of a stillborn baby whose skin looked as bad as Alex’s did, and I saw hundreds.

Somehow for those few hours I spent with Alex I couldn’t cry. I was in such an elated state to finally see him, comparing features with ours, and I was so proud. I would have done anything to hear him cry, ANYTHING!! Tears would not come until later, and they were flowing like a river.

Six months later, in September, I found out I was pregnant again, and I had a hard time feeling hopeful. Thoughtful friends sent me flowers and that cheered me up a bit, but this pregnancy was not meant to be. At nearly 8 weeks along I miscarried.

It wasn’t until April of the following year that I finally got the news I was pregnant again. The doctors tested me for everything and it seemed like this baby was going to be okay. My main fear for this pregnancy was going to full term. In my mind, if Alex would have been induced a week early, he would be alive today, so my rationale was to make sure this baby would be induced at 38 or 39 weeks at the latest. The Dr. was not happy at all about this, and he did not hesitate to let us know. He told us many times that it would be a very long labor because I was not dilated at all, and he was less than pleasant about the whole thing. He did not realize how stressed both Nick and I were about this baby making it, we wanted him to be born alive, and we knew that he was alive at that moment. We did not want to take any chances and risk his life just to arrive at 40 weeks.

Nicky was actually due December 12, 1996, but one late evening on the 24th of November I left for the hospital ready to be induced. Labor was induced and things started going real fast at first, the water broke almost right away, but then everything slowed down considerably, and it was then that they realized he was posterior presentation, or “facing up”. Nicky was not descending in the birth canal; so all my pushing was worthless. They tried to turn me around like a salami for 5 hours to make the baby turn, but they only succeeded in making the baby’s heartbeat fall, which scared both Nick and myself to death. We found ourselves crying, and the doctor, on the other hand, would continuously tell us “I told you so; the baby was not ready to come out”.

It was now 7 pm, I had been in labor for almost 20 hours, and I was no closer to have this baby vaginally than I was 20 hours earlier, even if I was dilatated to 10. Thankfully the end of Dr. L’s shift finally arrived. A nurse took care of me until the Dr. on call came in. I will never forget this new Dr, he was an angel that came to save the day, and I truly believe it. As he entered the room he made everyone at ease. Both my mother-in-law and my mom were in the room, both Italian, and Dr. A. (also Italian) started conversing to them in Italian!  This Doctor was immediately concerned about the baby and me, and immediately suggested a c-section. He told us that he had also lost a son much like we had lost Alex, and that he understood our worries and concerns completely. He talked to Nick like a father, reassuring him and helping him. He told us that he would do his best.

His best he did indeed, and Nicky came into this world at 11:42 pm. Our baby seemed just fine, even if early, big, lungs going great, and as cute as a button. We did not know it at the time, but being born c-section, hence being induced early, was the very best way for Nicky to be born, and the best thing that could have happened to him. If he would have been born vaginally they would have torn his skin off on his head and who knows where else. He was certainly spared a lot of pain. Unfortunately, many other EB babies were not spared this pain, I have heard of babies being born without skin on many places of their little bodies because of the friction of passing through the birth canal.

Soon after he was born they showed him to me and he was absolutely perfect, he looked a lot like his big brother, but he had a much smaller mouth, had a lot less hair, he was blonde instead of dark haired… and, most important of all, he was breathing!!! They took him to the nursery to run all the newborn tests, and everything “looked” normal at first except for his mouth. After they aspirated all the liquids from his mouth it started bleeding and losing its skin.

At 4 am they finally brought him to me to nurse, and this was the first and last time I ever remember thinking of him as a normal baby, even with his mouth problems. I was cradling his little sleeping body in my arms and I was in heaven. The only thing that ruined the moment was my tiredness, I could not keep my eyes open, even with all the adrenaline of seeing and holding my baby! I felt like such a terrible mother. I had gone 2 complete nights without any sleep, I was hungry, tired and I felt horrible. There were tubes attached to me all over the place, but I was at peace seeing my little Nicky sleeping. He refused to nurse, but who could blame him? That was the one and only time that they ever brought him to me.

At around 8 am the pediatrician came into my room to tell me that they had to put Nicky in NICU in an incubator because of the problem with his mouth. They thought it was a “Staph Infection”, “Herpes” or some rare skin disorder called “Epidermolysis Bullosa”. By then, in fact, he had started blistering all over the place. They told me that they had contacted a dermatologist and that he would have come there that same morning on his way to the Children’s Hospital in Phoenix from his office in Tucson.

When the Doctor arrived it was around noon, he told me that he had seen Nicky and did some sort of test with the eraser from a pencil and he wrote down the name of the skin disorder. He mumbled something about us having a 25% chance of this reoccurring in another pregnancy and then he wanted my signature on a piece of paper to let them take a skin sample for a biopsy. I was in a fog, I was drugged, I couldn’t get out of bed on my own, I would throw up everything I tried to eat, and I still had not had a few good hours of sleep, so my mind was not clear, this is all I remember of Dr. H’s visit unfortunately, aside the fact that he was very interested in seeing pictures of Alex.

It became obvious now, since Alex had all that skin coming off, that he also had Epidermolysis Bullosa. One Dr. with EB experience told me that EB fetuses are more likely to be stillborn (and miscarried) than a healthy baby… although he couldn’t tell me why. That possibly explains my miscarriage as well.  Alex had a lot of skin missing and peeling, which is classic of an EB patient. We will never know for sure what exactly killed him, if it was a cord accident like we assumed at the time, or the EB. Of course, for us, it is extremely hard to think that Alex was healthy. It is perhaps better that we’ll never know for sure.

The nurse took me down to NICU in a wheelchair and then left me. I was stunned to see that my baby had been put in isolation. They had to put an IV on the baby because he could not eat since his mouth was in such a poor shape, and he was attached to a heart monitor and other things. He was in an incubator to keep him warm, had no clothes on him aside some bandages and the diaper. They were keeping the tubes attached to his tiny body with gauze. They could not use tape. The tape had already damaged his tummy, and the hospital bracelets that they had put on his ankles had done some serious damage as well. When the nurse finally put him in my arms I held him for what I thought was an eternity, and I kept staring at those horrible blisters, I had never seen anything like it. On the right side of his head there were a lot of little red marks where the skin had torn off. The nurse told me he got those spots when I was trying to push him out, he kept banging his head onto my bone. The heart monitor they had put onto his head when his heartbeat had fallen caused the other spots on his head.

I went back to see him later on with my mom and my mother-in-law, and it was there that Nick called me in tears. Earlier he had come to see us, and I had given him the name of that strange skin disorder. Now he had had the time to research the Internet about it, and he was completely devastated. He told me that he would most likely die from this. The neonatologists comforted us a lot, and told us that EB is something that could be lived with. Another nurse told us that he had seen a newborn with EB before that did not survive, but that was in much worse shape than Nicky and that, unlike him, this baby’s wounds never healed. We did not know what to think.

The following day I walked on my own to see Nicky in NICU and I spent lots of time with him. I got discharged the morning after, Thanksgiving Day. I really didn’t think I was ready because I was still in a lot of pain, and I didn’t like going home without Nicky. Some people told me that they did not know how I could bear going home without Nicky, but I told them that last time I went home without my baby, Alex was in the morgue, and this time it was a lot easier knowing he was simply in NICU.

I went to the hospital every day even if I had to be put into a wheelchair from the pain once I entered the hospital. Every day I would spend hours holding him, talking to him, rocking him, feeding him… I could have never imagined to love a child as completely as I loved Nicky… yet I was so devastated both that I did not get to enjoy Alex this much, and that Nicky was in this much pain.

Since I was pumping the milk for Nicky I could not take too much medication for the pain, but I felt Nicky needed the breast milk more than I needed the pain to go away. The neonatologists told me that they could not let me take him home until they figured out a way to make him eat on his own.

Using a little creativity, the nurses and the neonatologists were successful in making him eat from a bottle. He could not suck much because his mouth was so sore, so they used a “Haberman feeder” to squeeze the milk into his mouth. They used some lydocaine for his mouth so the bottle would not cause any pain if he were to suck. This worked so well that within a couple of days Nicky was off the IV.

Now they wanted me to learn how to medicate his wounds and care for him in every way, so the following Monday night I spent it at the hospital in a room. The nurse instructed me how to care for him and I stayed in a regular hospital room with Nicky and my mother-in-law for the entire night and the next morning. I will never forget one nurse’s comment on “how well we were dealing with this”. But after the experience with Alex, we were just happy we could hold a living baby, blisters or not.

The dermatologist came back the following morning; he talked to us for a while and managed to really depress us. Over and over again he did not want to give us any hope for his survival. He told us that we would be in week after week to treat infections, if not worse, and totally painted an extremely bleak picture for us. Afterwards he took us step by step on how to care for his wounds taking extreme care in doing so.

Thinking back, there is a lot to be said of all the wrong things that this Dr. did. For starters, when he came to see Nicky the very first time, (when he was only a few hours old), he never told any of the nurses to puncture the blisters or how is the proper care for these types of wounds. Because blisters usually should not be popped (on a normal person), the nurses did not touch them, but with EB it is of extreme importance to drain and tear these blisters otherwise they can grow and grow and became really big. Because he failed to tell us this, Nicky was in real bad shape. Both elbows and half of both arms were completely skinless, and so were his ankles, the top of one hand, several fingers, one of his knees, the big toe on his right foot, several spots on his legs, and his chest. This Dr. could have painted a less bleak picture for us too. Knowing what we know now, unless a child is born with a severe Junctional form, as long as he’s taken care of properly, he can be OK! Sure, he will be limited and in a lot of pain, but he can live with this. Needless to say, my husband and I were not very happy with him, and things only got worse.

When we went back to see the Dermatologist at Phoenix Children’s Hospital a couple of weeks later, he brought in a lady who had lost a son from Junctional EB a few months earlier to help us and teach us proper wound care. But when this lady saw our son, she immediately knew he could not possibly have the same form her son had, and that he was going to be OK. She showed us photos of her son and we could definitely see a difference. Nicky looked so good in fact that the dermatologist told us that most likely had that one form or EB that goes away after the first birthday. Hard to believe this Doctor could tell us one moment Nicky would die, and the next that his EB would go away.

Nicky thrived at home. When we brought him back to the hospital to see his nurses on Christmas Eve, (he was 1 month old) they were in awe on how well he was doing, this was a few days before the results of the biopsy came back confirming that Nicky had EB and classifying it as “Recessive Dystrophic”.

When we went back to see the dermatologist when Nicky was 4.5 months old he took a pair of scissors and literally cut Nicky’s skin from the bottom of the toe that was fusing without any anesthetic. Nicky screamed for hours. Needless to say we never saw this Dr. again, Nick was furious. We are more knowledgeable about EB than he is, and to get this kind of care from someone who is supposed to be an expert… I rather go without, thank you!! The real experts were the Drs at the EB clinic at Stanford University in San Francisco.

We took Nicky to Stanford twice when he was little, once when Nicky was 8 months old, and once when he was 14 months old. The first time they classified him as having “mild” dystrophic, but the second time, because of all the problems of vomiting blood, they unfortunately had to “upgrade” his condition as “medium”, which has since been upgraded again to “medium-severe”.  At Stanford we had the opportunity to meet other children with EB and some adults too. We were also given the hope for a cure, as the EBMRF (Epidermolysis Bullosa Medical Research Foundation) resides there, and we also got to meet Lynn Anderson, who is the president and founder. The Andersons have lost two children to Recessive Dystrophic EB, Chuck at 27 from skin cancer, and Christine at 14 from heart failure. Both children suffered deformities of the hands and feet, chronic anemia, malnutrition, and growth retardation. The people at Stanford were very helpful but nobody really knows how to deal with this disorder day by day better than people that actually live with it. Other parents met personally or through the Internet better answered questions dealing with everyday problems.

Life with Nicky and EB has not been easy, especially for him. At first we were transformed into nurses, and knowing nothing about medicine there was much to learn. The parent of an EB baby cannot wear clothes that have buttons or anything that might cause a blister if rubbed against, cannot wear jewelry, including watches, and the nails have to be extremely short. The baby itself cannot wear anything that has too many buttons, or is harsh (like jeans), it needs to be soft and easy to put on with a large hole for his head to pass through without needing to do any pulling. Everything has to be padded, from the stroller to the bed, from the swing to the playpen.

The first six weeks at home I was lucky to have my mom’s help. I would sleep cradling Nicky, I was too afraid to let him sleep alone in his bassinet, even if it was just next to my bed, then, in the morning, I would give him to my mom so I could catch a few zzz.

I took advantage of it until she left, and then I went practically without any sleep for the following 2 months. Nick, who went to work, slept in the other bedroom for that time. Afterwards Nicky seemed to get the hang of sleeping, but even when he was 3.5 years old he still woke up at least twice a night, and only slept a total of about 7 hrs. His afternoon nap could be between 1-4 hrs, there was no telling.

Until Nicky was 4 months old he had to wear mittens to protect his face from scratches, and then wore gloves that were made of Lycra and were elastic, so that the tips of his fingers could be free. One by one, I watched all his fingernails fall off, and taking care of his hands is a big job. His fingers have a tendency of contracting and webbing, and if this problem is not taken care of he will not have hands when he grows up.

Having the Dystrophic form of EB means also having the “disfiguring” kind. If an area gets too many blisters it will never regain its normal look, it will be reddish and squam). Disfiguring also means that his hands and feet can web and contract, and his mouth and esophagus are severely involved. Because of this he can only eat mushy or liquid foods, and needs to be drinking constantly to keep the moisture. He has thrown up blood every now and then from a popped blister in his throat. Because of this, he built scar tissue in his esophagus and has needed dilatations every few months to enlarge the passage of food. It got so severe we had to put a g-tube to supply to him enough nutrition. It is hard to brush his teeth, and his tongue always has blisters. The tongue has somewhat healed attached to the bottom of his mouth, so he has a lot less use of it as a normal person. He also has very little gum space, as the skin has fused there as well.

Nicky was 7 months old the first time I was able to give him a real bath (meaning… immerse him in water), and his baths do take a few hours because all his bandages need to be changed afterwards. He watches Barney or Blue’s clues while mommy medicates and bandages all his wounds, then pads areas such as his knees, ankles, elbows, armpits, chest etceteras. I never had any help, not even when he was a baby; I always had to do his bandage changes. All of this is extremely time consuming, and thankfully, as time went by, Nicky has become more and more patient and cooperative.

Nicky is an extremely bright and careful little guy, he knows he can get hurt, so he takes his time in learning skills that might hurt him. He practiced crawling for almost 4 months (from when he was about 8 months old) before he was actually able to do it. And he did it extremely slowly at first… and backwards!! He was 20 months old before he mustered up enough courage to walk on his own, but it wasn’t until after his second birthday that he was able to truly walk on his own without help and without falling.

Taking care of Nicky per se improved dramatically from the time he turned about five years old, and while it’s been easier in some ways, it was harder in others.

It’s been easier because if he cried or got hurt he could now simply tell me where the owie was. Before it was just a guessing game.

It’s been easier because he would now sit still during bandage changes and even help me a little instead of screaming and kicking.

It’s been easier because he could now entertain himself and I could talk to him and have a conversation while I bandaged him. The things he said were so cute! I loved this age.

However, things were harder too.

They were now harder because, with RD, he already had areas that wouldn’t heal or would heal only to be open wounds again in a matter of a few days.

Harder because he could now tell me that he was in pain and where, so I knew he really was in pain.

Harder because now he knew he could not go out and run and play with the other kids because they would ‘hurt him’ (his words).

Things could improve though, and I knew they would eventually. I really hated, for example, when Nicky jerked away when I was trying to take off certain gauzes. If it was stuck or was a bit sticky he would actually hurt himself, while if he would have just stood still and I could take it off slowly, I wouldn’t have hurt him at all.

I’ve always tried to have an open line of communication with Nicky ever since he could understand what I was saying. When he complained and cried in anticipation of a bandage change or a bath I would tell him: “Mamma does not want to do this either, but we *have* to do it so you don’t get sick!” The last thing I wanted was for him to hate me or resent me for doing something I had no choice to do. I wanted him to understand and know that what has to be done needs to be accomplished without complaining. I didn’t mind if he cried if he was in pain, but this ‘anticipation’ screams were not acceptable to me. As much as I’ve hated doing bandage changes over the years I have never complained to him about them, and I always tried to make it a game for him, even though it was rough sometimes. Overall, however, things were easier. It’s impossible to say if I was now just more ‘used to it’ and how it now was simply a way of life, while when he was a new baby, being not only new at parenting, but new in the nursing business, I was overwhelmed. I still was overwhelmed, but only because everything was on my shoulders. Nicky has always been my joy, and truly my reason for not going off the deep end at times. He has always been such a happy little kid, how can I feel depressed with such a cheerful little boy around?

His first hand surgery to undo the webbing and contracting on his right hand was performed just before his second birthday and it was an awful experience. The problem was not the surgery itself, but the recovery and the making sure that the fingers healed with no webbing and straight and keeping them that way. In November 1999 Nicky went through another hand surgery, this time on his left hand. The surgery itself was a little easier, but the recovery was a nightmare, and the hand did not heal right. In the summer 2002 we tried again to fix the left hand, and this time the surgery and recovery went very well. As I write this, in the summer of 2007, Nicky wants a few of his fingers ‘done’ and we’re working on this.

My husband and I divorced in 1999 and life was hard for a while before I got re-married. Thankfully mommy did not have to work full time outside the home for too long. After one year and a half mommy was finally able to work from home. Nicky talks to daddy daily on the phone and they have a very close relationship. Mommy remarried and Nicky inherited a step sister and her half brother aside from a loving step-dad.
In 2003 Nicky also got a little brother! He just loves his little ‘pumpkin’ as he calls him, and they are great friends, always playing video games together, or outside, or taking a bath together.

It goes without saying that I was scared to death during this new pregnancy. After a stillborn baby, a miscarriage, and a baby with EB, I felt like I was walking on needles for the entire nine months. The only reason I went ahead and tried to have a baby again was because this baby would have a different father; hence the chance of this baby having EB would be extremely small since both parents need to be carriers. Even though the chances of having another EB baby were next to none, I still worried. I was 39 years old and there were other concerns, such as Down Syndrome for example. An Amnio was done, however, ruling everything out and we hoped for the best. On September 5th, Connor came into this world, healthy and happy! I still can’t believe it as I watch him run around now, almost 4 years old.

Nicky is extremely bright and has finished on top of his class all the way from kindergarten through 5th grade. His teachers and aides have always been very impressed on how hard he works and how fast he learns. We are all very proud of him.

Healthwise I wish I could say he’s doing good or at least stay the same, but unfortunately that is not the truth. Nicky’s health problems seem overwhelming at times. There are the endless bandage changes, the blood transfusions, the dental issues, hand surgery issues, throat issues, g-tube and nutrition issues, bowel issues… the ladder being the cause of much frustration, as family and friends cannot comprehend the condition and over and over again tell me I must be lazy or something… lazy? Do they really think I enjoy changing the diaper of a ten year old?

What has been the cause of most of the frustration and stress; however, were none of these things. It was the various Insurance Companies denying life sustaining/saving supplies, such as bandages to cover the wounds, or pediasure/nutren for his g-tube, denied my son to be seen and operated on by competent Doctors, and the constant, unending fight to make people understand that my son’s condition really is as bad as I describe, and even on a good day, I couldn’t exaggerate if I wanted to. How stressful is it for people to tell me that I am just trying to get pity from them… especially Insurance Companies, and their ‘oh well, we’re not going to cover it anyway’ type of attitude. It all makes the stress and frustration turn into anger and that is when I have to sit down and just breathe.

Somehow, someway, I’ve kept my wits about me. I am and have always been of the stubborn and resilient Italian stock, and even if my parents didn’t particularly care for my strength of character when I was a teenager, they have admitted it’s coming in quite handy right now. I am in no need of antidepressants, and I do not abuse any legal nor illegal substance, however, I completely understand people that feel the need to escape, and, to be perfectly honest, why not? If it helps them deal with their life and circumstances, a good antidepressant or a few drinks at night can be very therapeutically, as long as they are not morbidly abused and impede the care of their child.

Nicky is 10 years old as I write this, and while he’s very bright and a joy, he cannot dress himself, feed himself, clean himself and will most likely never be able to. After his little brother was born I was left with the decision to get Nicky a power chair because I was in the predicament of not being able to go anywhere with both boys if I had to push a stroller and a wheelchair. While I had some friends who frowned on me for doing so, feeling that it would lead to Nicky becoming dependent on it, at the time I truly felt I had no choice other than growing another pair of hands! I never regretted that decision. Nicky has gained an extraordinary amount of independence from it and since he’s not allowed to bring it into the house, he still needs to get around the house on his own two feet, albeit slowly. Because of the chair, he has a blast at school or at camp, being able to keep up with his peers and go anywhere (or almost!) they go.

I am not sure what the future will bring. It’s hard for me to think about the future. Having the Recessive Dystrophic form of EB I know what lies ahead. Perhaps Erma Bombeck, in her ‘God chooses mom for a special need child’ was right… as a mother of a special need child, we need to be happy, selfish, have a sense of self and independence. We need all of these things to be advocates for our children, to teach our children to live in a world that is not equipped for people that are different and don’t fit into a certain mold… and stress and frustrations are, sadly, part of the game.

Mom to 3 boys, 1 in heaven, 2 on earth. My first son Alex (whose demise is most likely EB related) was stillborn at full term. After a miscarriage, I had my second son Nicky, who has the Recessive Dystrophic form of Epidermolysis Bullosa. My youngest son, Connor, is 100% healthy, and I never, ever take it for granted. I am an author, photographer, graphic artist, webmaster, blogger and more.

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How to find Individual State Programs

These programs help low-income families (usually) or/and children with special needs.

When you click on the link for YOUR State’s Department of Public Health, search for (if it’s not immediately evident) ‘Children Health’ or ‘Children Medical’ services.

If the NAME of the State Program and information it is known, that information will be below the state and link.

Another resource for all states is your local Social Security Office. If a child can be declared disabled, they would be covered by the local or state Medicaid program.


State and Local Health Departments

Want a link added? Do you have the NAME or any information about a Children’s State program that is not listed? Are any of these links old or outdated? PLEASE LET US KNOW!!! Just fill out the SURVEY below and I will edit the list.


A Bandage Tale

It seems as if all people see, when they come in contact with a child with EB, is gauze. Some wonder if the patient has been into an accident or a fire, others fear it’s contagious: “what happened?” is a common question tossed around, but most just look dumbfounded, not being able to formulate a thought or a question. It’s OK, we get used to it, we all get used to it, eventually. So much so I barely notice it anymore, and my son does not notice it at all. This is not something we see every day. After all, EB is rare. Very rare.
However, I wonder if people know where those bandages come from. Does that cross their mind? Do they also wonder how much they cost? How long and painful bandage changes are?

I wanted to tell a short version of my story as it relates to bandages, because I feel it needs to be told. The “no details left unsaid” version will be part of the book I am currently writing about my son’s life.

To say Bandages are expensive is the absolute understatement of the year. This is a photo of how many bandages it takes to do a whole body  change, which we do approximately every 3 days. What we are doing currently is splitting it up in three portions and do a portion of the body every night. It takes about 2 hours each night, if we were to do a whole bath/bandage change, it would take us anywhere between 6-8 hours.
As this photo shows, there are 25 Xeroforms, 8 Vaseline Gauze, 1 bag of Webril, 7 Polymem, 2 Coban, 9 4″ gauze, 2 2″ gauze, 2 1″ gauze, 1 jar of Alwyn cream, 1 pair of tubifast socks, 5 Mepilex, 2 Mepilex Heel, 2 Mepilex Transfer, and then Surgilast cut for his arms, legs & thighs, Baby Oil in case there is anything stuck, tea tree oil, Pain Medication and Miracle Mist to spray on the Polymem so it’s not so dry. Scissors and Needles of course are par for the course. I also use oils, namely Argan and Coconut oil to massage his hands with which I did not include in this list. We constantly change what we use, but this is what we use now. Cost? Astronomical… just to name a few, the Xeroform alone is over $65, it’s $35 for the Polymem, the Mepilex is $165!! Just google ‘Wound Care Supply’ store and you can figure it out. It’s thousands of dollars every week worth of bandages. What family can afford this?

The answer to the main question which is surely twirling in your head is… YES. Our insurance, thankfully, pays for his bandages right now… but I am always waiting for the shoe to drop. You see, my son is nearly 16 years old, and the insurance only started paying for his wound care supplies 3 years ago. Before then a program for children in California called CCS covered most of it for several years, although I must state that for them to cover the bandages, I had to get a letter of denial from the insurance every year. You would think it would be a simple thing to get, but there are years that I went 3 months… 3 months without bandages WAITING for this letter that the insurance kept telling me was ‘in the mail’. Infuriating? You bet. I wrote letter upon letter, sent photos upon photos to the HMO commissioner in Sacramento, and they would always write me back telling me ‘They don’t have to pay’. Our argument that bandages for Nicky were not a ‘temporary thing’ but the ONLY treatment for EB went on deaf years over and over again. The state of Arizona though, which is where Nicky was born, had no such programs, we would end up putting the bandages on credit cards, and it wasn’t only the bandages. We had co-pays out to wazoo because Nicky was always visiting a different specialist and ended up needing physical and occupational therapy twice a week each at $30 a pop… since I had to quit my job to take care of Nicky full time, we drowned. Nicky was a little over a year old when I had to declare bankruptcy.
Without credit and without bandages, after the bankruptcy we survived using bandages donated to us from other parents, who sent us their overstock, and I made them last by washing and reusing them endlessly, even things they told us could not be reused or rewashed. I would let bandages soak in bleach for a day or so, wash them, re-roll or have them dry in a clean spot etc. Then on occasion we would get a big shipment from a parent’s whose EB child had died.

The saddest thing about this whole story? It’s a US only problem. Through the Internet I have met families with EB children all over the world, and, save for those families that live in third world countries which I can’t speak to so I am not sure how they survive, supplies were never denied elsewhere. Not a single patient I have met that lives in New Zealand, Australia, Canada, the European Union or even South Africa, was ever denied bandages. I am Italian, and if Nicky had been born in Italy, he would have had all the supplies he needed from day 1, and a visiting nurse twice a week. A visiting nurse? Save for the first 4 weeks of Nicky’s life, where a nurse came by once a week, I never, ever, got a visiting nurse again… and, I’ve asked! I remember once when Nicky was 3 months old, colicky, full of wounds, I was going out of my mind. I called the pediatrician’s office in tears asking for help. Did I get it? No.

I am not one to complain, but my story needs to be told. I don’t know what the answer to this problem is, but since I know the US is hell bent in not having real Health Care, only for-profit care, Insurances need to realize or be forced to realize that bandages for an EB patient are not a “luxury” but a “necessity”.  Bandages are also not a luxury for many other conditions and situations, we’re not talking about your run of the mill scrape or bump, we’re talking about ulcers the elderly get, we’re talking about any condition that leaves the patient with a chronic wound.

If you know of any Congressman with a HEART, please refer them to the Bill below, we need all the help we can get!


Mom to 3 boys, 1 in heaven, 2 on earth. My first son Alex (whose demise is most likely EB related) was stillborn at full term. After a miscarriage, I had my second son Nicky, who has the Recessive Dystrophic form of Epidermolysis Bullosa. My youngest son, Connor, is 100% healthy, and I never, ever take it for granted. I am an author, photographer, graphic artist, webmaster, blogger and more.

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Baby on Board

By Emily Spurrier
From her Blog: Dys-Located

This is the sixth and final entry in a blog series on Epidermolysis Bullosa (EB) as part of EB Awareness Week (October 25-31).


Earlier in life, I had envisioned myself having three children. I always said that the first would be a boy, the second, a girl… and the third could be whatever he wanted to be. I had a feeling that my first child with my former boyfriend would be a boy, but deep down, I had this irresistible hunch that my first child would be a girl.

In my teenage years, I babysat a little girl with light brown hair and the biggest brown eyes. I knew my daughter would look just like her. I never could envision what my son would look like. In my four years with him, I never could make sense of this. As a kid, I had dreams that I would marry a boy with blond hair and blue eyes. My boyfriend had brown hair and blue eyes. In hindsight, it makes sense now. His first child was a blond haired, blue eyed little boy. My husband is also blond with blue eyes.

Seven months into our marriage, George and I started talking about having children. More accurately, I started talking about having children. My husband was never fond of the thought of kids. If it was his choice, he probably would not have had any. After weeks of discussion, we compromised and opted to see how things went with one and immediately started trying, knowing fully the possible risks that went with me conceiving a child.

During a visit with an EB specialist in Minneapolis when I was 20, I was visually re-diagnosed with EB Simplex Dowling-Meara. Dowling-Meara has autosomal dominant inheritance, meaning I carry a 50% chance of having a child with EB with each conception. I also have had vision problems, with the help from the Outback vision protocol. it has gotten better but I have always been afraid that may children may get it as well.

We decided to roll our dice and take a shot. Our reasoning was that in the end, I turned out OK and thus, there was no reason to believe that my own child would not be OK in the end if it were born with EB. After five months of trying, we learned we were pregnant on June 5, 2003.

My new-found pregnancy was not greeted with all-positive reaction, however. Many were critical that I would have the gall to potentially bring another child into this world with this devastating disease. How dare I do that to a child? Others suggested that we weren’t ready to have kids. Really, when are you truly ready to have kids? I knew my clock was ticking. Early menopause ran in my mom’s family and difficulty conceiving and miscarriages ran on my dad’s side. I felt I had time and nature against me, and that I had to conquer them.

Immediately, we started putting things in motion to determine in advance if the baby had EB or not. We wanted to be prepared, as a child with EB would mean a complete change in our family dynamic, specialized clothing, bedding, diapers, footwear… everything. A baby with EB would mean that I would have to give birth at another hospital. I did not want to bring a child into this world with EB at our local hospital as they obviously had difficulty grasping the concept of EB, as they well demonstrated two years prior when I was in their ER.

Detection of EB cannot always be determined via ultrasound, though it has happened before. George and I, however, wanted to be 100% sure. In order to do this, we had to start with a biopsy on myself. I had to finally face my fear and get ‘officially’ diagnosed. My first memory of EB was when I was two. I was held down by my mother and two doctors as a section of skin was taken from both of my legs. I refused to look at my wounds for weeks. As a result, I ironically had a fear of seeing my own injuries throughout childhood.

On July 15, 2003, I went to the U of M Dermatology department alone. George could not miss a second day of work following a serious accident we had the day before. Nobody was there to hold my hand. Nobody was with me to calm my fears. At 7:30 am, though, I laid down on the table. It was a nerve-racking experience that I hope not to endure again anytime soon. The doctor started by trying to create a blister on my leg with a pencil eraser. After a few painful minutes of running the eraser across my leg we finally had a blister come up. He then numbed my leg with a little lidocaine and I immediately became anxious about the length of the needle and all of the sharp objects lying around! He then started taking 3 1/8-inch size circles out of my leg. He would do one, put it in a bottle, do another, put it in a bottle and then did a third one. The whole time I was shaking and sweating.

Blood doesn’t bother me, but a large amount of my OWN blood is a little disturbing (and always has been). I had to stop watching him. So, I just stared at the ceiling the rest of the time, reminding myself why I was doing this. I had my hand on my stomach the whole time whispering “its for the baby.. its for the baby.. its for the baby…”. It was then that the tears started.

After all was said and done, I had only 3 stitches. From there, I went to work. That night, George asked me a question which got me thinking. Though it was extremely unlikely, he said “What if the biopsy comes up saying you don’t HAVE EB?” The best response I could come up with was “I’d be devastated!”
I tried to give him an analogy as to why it would be rather devastating and I couldn’t think of one, except, “What if you were told after all these years you weren’t a Spurrier”. It’s a part of you and who you are. What if all the sudden you find out that’s NOT who you are? I would have been lost beyond words.

Within a couple of weeks, I received a summary letter in the mail stating that “The localizations of the type VII collagen, laminin 5, beta 4 integrin, type XVII collagen, plectin and keratin 5/8 are consistent with EB Simplex.” Well, we had that narrowed down. However, the ‘break’ in my DNA chain was one that the doctors in Philadelphia doing my testing has never seen before. Thus, she thought that though I do have EB Simplex, I just might have had a new mutation (perhaps an undefined form) of EB. For this reason, she requested DNA samples from both of my parents to be sure that this ‘break’ is EB and isn’t present in either my mom or dad’s DNA being that they don’t have EB.

And so, my parents went to their local doctor and provided blood samples. On November 12, 2003, exactly 29 years to the day after I was taken home to die from EB, I received another letter

“A single mutation designated 547-549delATC was identified in exon 1 of the keratin 5 gene from the sample submitted by Emily Spurrier (nee Holloway). This mutation results in the deletion of an isoleucine at position 183 of the keratin 5 protien, which is a highly conserved and critical amino acid for the functional keratin 5 assembly into tonofilaments. This mutation has never been reported, however, amino acid substitutions at this position have been reported to cause Epidermolysis Bullosa Simplex, Dowling-Meara and have an autosomal dominant inheritance pattern. Neither of Emily’s unaffected parents carried this mutation confirming that it has arisen de novo.
Recurrance risk to any offspring of Emily’s is 50% with each pregnancy. Prenatal diagnosis can be offered to this patient at any time for the presence of the mutation in a prenatal amniotic fluid or CVS sampling”

In English, this translated to the fact that the break in my DNA so to speak had been located in my keratin 5 gene (we all have a keratin 5 gene.. just mine is malfunctioning). There is a missing amino acid in this keratin protein that is causing my EB. This amino acid is critical in keeping the layers of skin on the body intact.

They had never seen this kind of break in DNA before, which means I’m an original, however the results of this break are synonymous with the characteristics of EB-Dowling Meara. So, I was right. There was a 50% chance that Kathryn would inherit my exact EB type. I was welcome to go ahead and do prenatal testing for EB on her if I so chose. I called my OB and left a message to set up an appointment for that so that George and I are more prepared come February since an infant with EB will bring about more changes than simply just an infant in the home.

Now, it seemed, even before her arrival, every appointment I made, every schedule change at work and almost every step I took those last few months were all for Kathryn. We went into this knowing full well that I had a 50% chance of passing my disorder on to my child. I did everything I could to explain it all to George and what would be physically involved, however, he still was not fully prepared. Hell, I don’t think even I would have been prepared. Nevertheless, we were both still looking forward to meeting this little girl for whom we’d already done so much.

For this reason, it appalled me that there were doctors out there who believed I would be selfish enough to want to terminate my pregnancy simply because she had EB. I didn’t go through everything I have to conclude it myself. Granted, had George and I known we’d be through everything we had, we certainly would have waited, however, I’m not one to create a life on purpose only to end it six months later.

In late November, I got a phone call from Dr. Bloom, the EB specialist in Minneapolis.

To backtrack, Dr. Bloom is the doctor who did my biopsy in June of that year. I didn’t really think very highly of him and he doesn’t have the best bedside manner. When I saw him back in 1997 for a visual diagnosis, he took several clinical photos. I thought he was just going to take a few photos and be done with it. But no, he had to bring people in to observe too, which made me very uncomfortable and some of the pictures he took weren’t exactly what I expected either. Then, when he was talking about what he thought I had he said directly to my mother “When your daughter decides to have children, most likely she had a 50% chance of passing it on”. Mind you, I was 22 at the time and an adult. There was no need to tell my mother this as if I were a child.

Fast forward back to 2003. Dr Bloom calls me and says “Emily! Guess what! We got the results back from your tests!!”

“Er, what tests?”

“The DNA tests.. we just got them back, you wanna hear the results?!?”

“Um, Dr. Pfendner faxed those directly to me a week and a half ago”

“Oh.. well you wanna know what they mean?”

Well, I have a pretty good idea what they mean but try me”

“Well, first of all, neither of your parents have EB”

No kidding? Tell me more I’ve known all my life


“And this means that your EB is a mutation.. meaning you’re the first to have it”

Well I’ll be darned.. there you go again!

“Right, I knew that”

“This means that your EB is autosomal dominant, and that you have a 50% chance of having a baby with EB”

Didn’t we cover this in August when my first set of results came back??

“OK.. and?”

“Well, this means that from now on, you don’t have to wait until late in the pregnancy to find out if your baby carries EB. You can find out right away via what is known as an amio. An amio is…”

This is the part where I roll my eyes

“I know what an amio is, Doctor. I have one scheduled for December 2″

“Oh… um… gosh…. well… What is your anticipated pregnancy completion date?”

“You mean my due date?”


“February 14, 2004″

“How far along are you?”

“27 weeks”

“It might be too late to do an amio.. because you’re pretty far along in the pregnancy”

“According to the docs its not.”

“Well, you were going to terminate if the baby had EB, right?”

Mind you, this is the part where my only facial expression at this point is shock… I was so angry that he actually had the audacity to say this to me!

“Um…. NO.. we have every intention of completing the pregnancy”

“Well, then why are you doing the amnio? Who exactly is doing this?!”

“My perinatologist is doing this and I have an appointment with my genetic counselor at my clinic just prior to this”

“Well, you know, all its going to tell you is whether or not your baby has EB”

What the…????!!

“Um, yes.. i know”

“Well, then what is the purpose?”

Again, shock.

“So that George and I are better prepared!!”

I explained to him all the reasons for our wanting to know ahead of time and he cut me off and I ended the conversation at that point, thanking him for the phone call and hung up.

Needless to say that if Kathryn did have EB, she was never going to meet this man! I was floored! I told him three times we were NEVER intending to terminate the pregnancy, but he seemed to have it stuck in his head that my only reason for testing was because I wanted to terminate if she had EB. To me that’s like saying that I’d want to terminate if she had my brown hair instead of George’s blond!!

The way he put the part about termination really struck a chord with me. Granted, I cannot speak of other people who are or will be pregnant with EB, but I told Dr. Bloom on numerous occasions that Kathryn was not an “accident”. If that were the case, does he actually think I’m the type of person that would play pregnancy roulette and test every time I would get pregnant in anticipation of aborting if the child has EB?!

Our Amniocentesis was on December 2, 2003, just before George’s 23rd birthday. The goal was to get 2 vials of fluid in the mail via FedEx by 3:15 p.m. so that they could be overnighted to Philadelphia, which is where the lab was that determined whether or not Kathryn has EB. It started with just a standard ultrasound to measure her and to make sure that there was room to draw fluid from. We saw that she was indeed still a girl.

After we did this, I was then doused in antiseptic and alcohol and then covered in a cloth. George held my hand and patted my head as they stuck the catheter into my upper belly. This was extremely painful.. more so than a small needle prick. The needle was then inserted into the catheter and the fluid was then drawn from me. I was able to watch the procedure on ultrasound the entire time.

The pocket of fluid was taken from behind Kaci, so there was no danger of injuring her in the process. The needle was inserted far from her bottom, however, just after the needle was inserted, Kaci decided to back her little bottom right into the needle. It didn’t prick her because the doctor angled it away from her, however, her bumping it with her rear end was slightly painful for me. Just about 30 seconds later, she removed the catheter (which again, hurt) and all was over. All that was left was the soreness as if I had been bruised. I was then monitored for an hour to make sure I wasn’t having any contractions and to make sure that Kaci’s heart rate remained the same.

On December 22, 2003 at 10:30 a.m. my phone at work rang. I had a hunch I would get the results just prior to Christmas, and also had a feeling it would be the best Christmas present yet. I picked up the phone. “Mrs. Spurrier, I have wonderful news… oh wait, I have to verify that you are Mrs. Spurrier first… ” were the first words I heard. I could barely choke out my identifying information. I knew what the call was about from the moment she said “Good news”.

The results officially indicated that Kathryn Cecile Spurrier did not carry the mutated gene that causes Epidermolysis Bullosa. I choked a thank you out and excused myself from my desk. I sat in the cafeteria of my workplace sobbing. I called my father in law first, still sobbing. “Emily, what’s wrong?” he kept asking. All I could say is “Nothing. Absolutely nothing is wrong.” My actions and my words contradicted each other according to my father in law. After a few minutes, I was finally able to squeeze out just how they did not.

I then called George. He never has been one to show emotion and is rather indifferent about many things. It’s actually how he acquired the nickname “Eeyore” when we first met. It was the only time I’d ever heard him get choked up. Then, I called my parents, who were equally happy. George and I were free to start looking for Daycare for Kaci without having to worry about special needs. I was free to register for all the lacy, cute and pretty outfits I wanted. I could get as many diapers as I needed. My baby was healthy.

I went into labor on the afternoon of February 11, 2004. By 3 am on February 12, we were at the hospital with full-blown contractions. I opted for a normal delivery with an epidural, as there was nothing on my end that we could see that would do me better by having a C-Section. I also delivered at the same hospital I visited two years prior in their ER.

February 12, 2004

By ten that morning, I was pushing. This caused more damage to me than anything. Two hours and fifty-two minutes of situps, is basically what I did. Luckily, the epidural kept me from feeling the layers gradually peel off of my lower back with each push. This, of course, was not something I had considered in my birth plan.

Kathryn came into the world at 12:52 pm on February 12, 2004. The first thing I noticed when I saw her was that she had George’s chin. The next thing I did was unwrap her and check her from head to toe, rubbing her everywhere to make sure her skin stayed on. I needed to know for sure. I needed to know that nobody made a mistake somewhere along the way… that my baby’s skin was normal. I rubbed her feet, checked under her diaper, looked around her ID bracelets. Everything was fine.

The stress of a newborn, the damage to my back and now new blisters that were forming on my right arm from having to constantly hold an infant were taking a toll on me. Within a month, I had staph again.

I couldn’t breastfeed, for what should now be obvious reasons. I did manage to pump for nine weeks, wincing in pain each time. Lanisoh was my hero and helped me quickly heal enough to tolerate the next feeding, and thankfully I was able to keep on taking my pills from a couple months later.

George and I had won the lottery. We had a feeling she would be our only child. The following December, it was a solid decision. A friend of mine learned she was pregnant when Kathryn was a few weeks old. She, too, has Dowling Meara EB. Her son was born on December 6, 2004. Within 12 days, Garrett was gone. I called George in tears. “Done,” I said. “We’re done.”.

We made sure of it, coincidentally, on our sixth wedding anniversary.

Kathryn knows why she is an only child. She knows that if mommy had another baby, it could be very sick. She knows she was lucky, as she has seen photos of babies with EB, including myself. George and I were indeed very, very lucky.

Now, if Kathryn gets a scrape or an injury, I react immediately. Sometimes, I’ve even been known to over-bandage. It’s all I know.

Emily was born in Southwestern Louisiana and has moved over 20 times in her life through nine different states. Most of her life was spent in the Twin Cities of Minnesota, where she met her husband and had her only child. Both she and her husband are also only children.

Emily was born with EBS-DM (EB Simplex, Downling Meara), and was in a wheelchair as a result until she was 18. She started improving at around 15, and this is why Kathryn is an only child.

She graduated from Stillwater (MN) High School in 1992 and from the University of Wisconsin in 1997 with a BS in Journalism. Three years later, she met her husband, George, and they married in 2002. Their daughter, Kathryn, was born early in 2004.

She relocated with her family back to Arkansas in 2005 after being away for 30 years. She currently works for the Arkansas Democrat Gazette as a Web Clerk and lives in North Little Rock.

When not taking care of her daughter, cooking, working, cleaning house, sewing, gardening, kn


Further Into Adulthood

By Emily Spurrier
From her Blog: Dys-Located

This is the fifth in a blog series on Epidermolysis Bullosa (EB) as part of EB Awareness Week (October 25-31).


Following the demise of my first serious relationship, I figured honesty was still the best policy with those I had dated. With the first potentiality, however, intimacy was not an option, for he feared injuring me due to my EB. I was crushed. My worst dating fear had come true. I reverted back to my “Don’t ask, don’t tell” personal policy.

The following April, I had no choice but to tell.

My roommate and I had some friends over for dinner and beer. Around midnight, I tripped on an air mattress we had on the floor, fell against the sofa and completely dislocated my left knee. I landed, stuck between the sofa and the air mattress, on top of the feet of one of our guests. We called an ambulance and for the next three hours, he and I talked about the wonderful time we were having.  Though the ambulance showed up within a short amount of time, my morphine allergy prevented them from giving me anything for the pain except nitrous oxide. Inch by inch, they moved me to the gurney. By the time they loaded me onto the ambulance and got me over to the hospital I was delirious.

Once at the hospital, I was given an IV with pain medication. I insisted that they not use adhesives on me, and it was listed on my medical record to not use them at all. I begged for a tourniquet and gauze to hold the IV in place. “Oh, it’s OK,” said the nurse as she taped the IV to my arm, “It’s hypoallergenic tape.” I didn’t have the consciousness about me to rebut her any longer. Next thing I knew, the doctors and nurses were counting to three and they popped my knee back into place. I later learned that my screams could be heard all the way in the lobby, where my roommate and male guest were waiting. The second scream came about half an hour later, when they ripped the tape off my arm. It was then that they discovered just how serious I was about my ‘no tape’ policy. I later told my male guest that he should have come back with me, to translate my persistence into English. He stayed at my house for another two days to make sure I was OK. We watched Monty Python together and he laughed at my Vicodin-induced antics. Two years later we were married.

I can’t wear heels of any form. Most nice flats only last a couple of hours on me before my knees give out, blisters form around the outsides of my feet and my lack of ankle support. I was married in sequined slippers. Thanks to them, I was able to walk down the aisle, dance with my father, husband and Man of Honor. I did the Electric Slide, the Macarena and only remember sitting down for dinner and removal of my garter. I did have some significant trouble moving the next day. We were forced to cut our camping trip short because massive blistering from the stress and activities of the past week and being one with nature do not combine well. But hey, I achieved my goals.

Now, my biggest worry is staph. Since moving to Arkansas in 2005, the heat and humidity have caused it to come more often. In fact, three years ago, my right elbow swelled to the size of a golf ball, I had blistering all up and down both legs, and I was breaking out into cold sweats and shakes. I was placed on Doxycycline, which we quickly discovered I have adverse reactions to. The pain was intense and I was throwing up with violent frequency.  A trip to the doctor showed that I was near systemic. I immediately switched antibiotics. The stresses at home and work had impacted me to the point where it made me sick. I was put on an aggressive round of Dicloxacillin and missed a month of work. Finally, while I was still on leave from work, my husband took me on a fishing trip to Southern Missouri. After a few sunny days on the boat, I was feeling much better and my skin almost immediately cleared up. I started searching for another job, but felt that the only thing I could do was more customer service. I would be right back in the same unhealthy position. On the flipside, however, a sitting job was what was best for me. It was a long process of finding exactly the right job.

In February 2009, I had one more foot surgery to remove a spur on my left foot. It was hurting and hindering what ability I had to walk. I was put in a  soft cast and was given crutches to use. I couldn’t use the crutches, as they immediately caused severe blistering on my arms and hands, making me even further immobile. The pain caused me to move slowly, thus making it impossible for me to make it to the bathroom, or wherever I had to go and back to my desk in the allotted time I had while working in a call center. In such an environment, any form of tardiness could result in disciplinary action.

One day, still unable to put pressure on my left foot, I attempted to get up from the sofa using only my right foot. My knee slipped out of place and I fell to the ground. Slowly, and in tears, with the help of my husband, I made it back to the sofa. I took another leave of absence and requested approval for a wheelchair.  It had been fifteen years since I’d used one and the pushing of a manual chair was causing blisters on my hands. I couldn’t go on like that. I urged approval to go ahead and push me ahead to go into a walking boot as my husband could no longer help me get around. The walking boot, however, was no picnic, either. The constant rubbing on my leg from the walking boot caused blistering that no amount of cloth barrier between it and my leg could prevent. Within four weeks, instead of six, I was out of the boot and walking normally. I still took another two weeks off, however, to ensure my amount of walking was limited and to give myself time to heal from the infection that the boot kindly gave my leg. I was on Ciprofloxacin for two weeks.

Over a year later, however, I was still working for the same company and was taking FMLA leave often. By June of 2010, I was having anxiety attacks combined with uncontrollable infections. My health was my first priority, and taking kratom capsules was the only solution to my anxiety levels. I had to leave. I left my job of five years. I left my mid-range five-figure income and stayed home with my daughter living off of savings. I hadn’t felt so healthy in years.

Since the birth of my daughter, I had been getting inexplicable rashes in random places. They’d appear after wearing fleece, but we ruled it out as being an allergy as I’d also get them after picking her up. They’d erupt late at night. We ruled out detergent and red dye.  I’d get them on the tops of my feet. We eventually ruled out my socks. My mother had breakouts as well and she was eventually diagnosed with eczema, which is hereditary. I asked my dermatologist and he confirmed that I had indeed inherited it from her. I had eczema in addition to my EB. The two are treated completely differently and yet, one is always causing an outbreak in the other. Sweating, slight friction and stress cause my eczema to flare. Scratching the resulting hives, more stress and friction causes the rashes to develop into an EB-related mess. Today, it’s a constant mix and careful balance of creams, antihistamines and antibiotics (most of which I’ve become resistant to over the years).

I am working a job that causes significantly less stress and is much more accommodating to my health needs. As an added bonus, I’m working in the field I went to school for again. EB isn’t as much of an issue as it was as a child, obviously, but it’s still hovering above me.

This past Friday, as a matter of fact, I was on my feet from 6 am to 10:30 pm. I took my daughter to a carnival and though I could feel my feet swell from an erupting blister I let her go on “One more ride, mommy.”. Sometimes the reward of seeing her joy is so worth the sacrifice I make, even if it is painful.

Tomorrow will be my last installment for EB Awareness week… and probably the most emotional journey I had to take on this road to date. Stay tuned, as you’ll notice I left out a pretty significant event in my life in this entry…

Emily was born in Southwestern Louisiana and has moved over 20 times in her life through nine different states. Most of her life was spent in the Twin Cities of Minnesota, where she met her husband and had her only child. Both she and her husband are also only children.

Emily was born with EBS-DM (EB Simplex, Downling Meara), and was in a wheelchair as a result until she was 18. She started improving at around 15, and this is why Kathryn is an only child.

She graduated from Stillwater (MN) High School in 1992 and from the University of Wisconsin in 1997 with a BS in Journalism. Three years later, she met her husband, George, and they married in 2002. Their daughter, Kathryn, was born early in 2004.

She relocated with her family back to Arkansas in 2005 after being away for 30 years. She currently works for the Arkansas Democrat Gazette as a Web Clerk and lives in North Little Rock.

When not taking care of her daughter, cooking, working, cleaning house, sewing, gardening, kn


Into Adulthood

By Emily Spurrier
From her Blog: Dys-Located

This is the fourth in a blog series on Epidermolysis Bullosa (EB) as part of EB Awareness Week (October 25-31).


By the time I was fourteen, I was able to walk long distances, but could not do so in shoes. I was in an adapted physical education class because I was not able to do pushups. Pull-ups would shred my hands. Asking me to run sprints was like asking a turtle to play fetch. It was impossible. I had days where I would come to school in slippers because my feet were so swollen and sore. Other days, I would walk a mile.

That same summer, I had my first of many orthopedic surgeries. Because the pain involvement on my left foot was often greater than that on my right foot, I had a tendency to walk on the ball of said foot, while the right foot remained pronated. My achilles tendon was lengthened to help bring the left heel down. Now, I was wheelchair bound with a cast for the next six weeks.

Shortly afterwards, we moved from the Los Angeles area to Minnesota. Almost immediately, my skin started healing faster and my endurance was higher. As previously stated, however, I was depressed and immensely self conscious. My feet were my biggest issue. Shortly before my sixteenth birthday, I had a second surgery to completely reshape my right foot.   Years of walking incorrectly had collapsed the arch on my right foot and caused several of the bones that are naturally on the top of a foot to shift to the inside. I spent another six weeks in a cast, found out I was allergic to morphine and learned that I could never use crutches. A week later, my aunt died suddenly.

Outside of school, anonymity had become my friend. I acquired a pen-pal through an international service. I consciously chose not to tell him about my EB. I didn’t want him to treat me any differently than he would treat anyone else. I held my tongue often when he would ask me about outside activities, but still shared with him stories about my friends, trips to the mall, and most any other typical teenage angst story that was common for anyone my age. Within a short time, we were sending audio letters back and forth. He talked me through getting over the death of my aunt, the loss of a close friend and several other issues that contributed to my depression, but never did I mention to him that I had EB. We remained close until we were 18 and then, the letters stopped. To this day, I credit him for being that person to talk to and open myself up. It was him who helped crack my shell.

By the beginning of college, I was no longer using the wheelchair, at all. I walked to all of my classes (in shoes… sometimes boots) and conquered the Mall of America on foot. When this new-found freedom came boys, parties and the college and life experience that I personally felt I had been hindered from for so many years. I rarely told people about my condition, and felt that it was only a need-to-know basis. At the same time, however, I’d wear shorts or tank-tops that obviously revealed my scarred legs. This became an issue at one point a few years later… One that I never thought of.

I attended three colleges between 1992 and 1997. I had many friends of both genders. My best friends, however, were male. They were my protectors, my rocks and my brothers that I never had. None of us ever talked directly about dating each other. It was sort of an unspoken rule between us all that we never would.

While in college, however, I managed to dislocate my knees twice. Once, it required an ambulance ride and an immobilizer. My years without walking had weakened my knees and caused my kneecaps to grow higher up than other people’s. This instability led to countless rounds of physical therapy until my muscles strengthened enough just from walking to keep my knees stabilized. Additionally, arch supports had become mandatory. Without the support in my foot, my ankles still turned inward, causing the rest of my lower body to become misaligned, which, in turn, caused my knees to ‘slip’ in and out of place, and now taking the best bodybuilding supplements is necessary if I want to achieve something when I work out.

Then, I turned 21. While enjoying one of my only “quiet” evenings of the week in my friend’s dorm, I was asked out by one of her friends. Perhaps it was my rookie status in the dating scene, but we only lasted two weeks. I never told him about my physical health. Shortly afterwards, I accepted a date request from someone I had previously turned down. At the end of the date, I opted to open up to him and tell him about my EB. If it was going to turn him off, it might as well be then… before anything became serious. I approached the topic cautiously, telling him there was something I wanted to tell him about myself and that if he changed his mind about a second date, I would understand.  “I figured that’s what it was from day one,” he replied. “We studied about it in genetics class.” I was hooked. We were together for four years.

In those four years, he witnessed one more emergency orthopedic surgery, and several infections that come naturally with EB. He also witnessed me question my initial diagnosis of RDEB.

With the increasing popularity of the internet came the accessibility to directly speak to others with EB. I discussed my symptoms with others, including my hypermottled pigmentation, elongation of wrists and vast improvement with the onset of puberty. These were all characteristics of those who had EB-Simplex, not Recessive Dystrophic EB as I had been diagnosed with at a very young age. In fact, back in the 70s, many people I spoke with who had EB-Simplex had been misdiagnosed with RDEB around the same time and questioned their diagnoses themselves as they, too, were still alive. Second biopsies had confirmed for them the misdiagnoses. My first biopsy at the age of 2 was traumatic and consequentially caused a phobia of such procedures. Thus, I opted against getting a clinical re-diagnoses and settle for a personal one of EB-Simplex Dowling Meara.

Following my graduation from college, came the question of vocation. EB, naturally, limited my choices for employment. I couldn’t work with my hands. Waitressing was out of the question, as there was little chance my feet could endure an intense eight-hour shift. I assumed I wouldn’t have made much money as an exotic dancer. My potentiality at a career in professional sports was shot at an early age because I didn´t know I could get cheap boxing gear at and I would have never survived boot camp had I entered the military.  Sarcasm aside, my choices were limited. I chose journalism, which later led to two years managing a book store and then ten years in customer service.  While at the book store, someone noticed my skin and scarring. The customer pulled me aside and provided me information on domestic violence. She told me that if I needed a place to go, she could help me, that it was never OK for my boyfriend to beat me. I explained to her that he never laid a finger on me, that I’d never been beaten by anyone and that I was born this way. Embarrassed, she apologized profusely and thanked me for understanding…

Emily was born in Southwestern Louisiana and has moved over 20 times in her life through nine different states. Most of her life was spent in the Twin Cities of Minnesota, where she met her husband and had her only child. Both she and her husband are also only children.

Emily was born with EBS-DM (EB Simplex, Downling Meara), and was in a wheelchair as a result until she was 18. She started improving at around 15, and this is why Kathryn is an only child.

She graduated from Stillwater (MN) High School in 1992 and from the University of Wisconsin in 1997 with a BS in Journalism. Three years later, she met her husband, George, and they married in 2002. Their daughter, Kathryn, was born early in 2004.

She relocated with her family back to Arkansas in 2005 after being away for 30 years. She currently works for the Arkansas Democrat Gazette as a Web Clerk and lives in North Little Rock.

When not taking care of her daughter, cooking, working, cleaning house, sewing, gardening, kn


Gabriel’s Story

When we found out we were pregnant we were so excited, we had been trying for 6 months. After a typical 9 months of a perfectly normal pregnancy, I gave birth to a beautiful 7lb baby boy which we named Gabriel, after the Angel in God’s Army. Little did we know  what a soldier we had and how fitting this name was for him.

Gabriel was prefect. We noticed he was missing skin on his wrist and on his ankle. The Doctor assured me it was nothing to worry about, he must have hurt himself during the birthing somehow. We were also concerned because his circumcision looked abnormal. The skin left looked raw. The Doctor told us it was fine. Two days later we were released from the hospital to go home and introduce him to his big sister Maddison. Everything was normal and fine for about a week. The missing skin had healed and there was nothing to indicate anything unusual. However, he started to get big blood blisters on the heels. Both heels were solid blister. We discussed it with his Doctor when we took him to his 2 week appointment. The Doctor had no clue. Maybe his skin is just soft and he’s blistering when he kicks was the Doctor’s assumption. Come back next week and we will see how it looks.

We went back and it was still constant blistering. Confused and with no idea why Gabriel was blistering, he referred us to a Dermatologist at Children’s Hospital. They had set the appointment for 3 months later. I called and begged for an earlier appointment. My son was blistering and we had no clue why. He was hurting and I couldn’t fix it. They finally agreed. At a month old we went and saw the Dermatologist. After looking at him she said it looked like Epidermolysis Bullosa. I had no idea what she was talking about. I just looked at her with total confusion. They decided to try a test. They took a pencil and spun the eraser to see if they could induce a blister. That was a fail since it just sheared the skin off altogether, so they cut a piece of skin off to send for testing to confirm. She gave us a pamphlet and told us not to Google it.

Being me, the first thing I did was Google it as soon as I got to the car. The more I read the more scared I was. The more pictures I saw, the harder I cried. Telling our family, it was hard to even get the words out. They, like me, had no idea what I was talking about either. I tried not to worry until they received the confirmation, but as a mother, it’s impossible to do that. A month later we returned and got the confirmation I had prayed so hard that it wasn’t. I broke down. My question was mostly Why? Why was my son going to live with pain? Why was there no cure? Why couldn’t it be me? Why just filled my mind. His blistering progressed from his heels to his hands, to his knees, elbows, fingers and toes, back, ears, and lips… the list just kept going.

As he began to grow, the blisters and tearing of the skin began to worsen. I was terrified of crawling, which he began to do at 7 months. His knees looked like he had slid across concrete. We kept it all wrapped to try and avoid as much pain as we could. At 10 months he began to walk. With every stumble my heart would drop. Multiple times his palms were nothing but raw flesh. Keeping him wrapped began to be a problem because he would take the bandages off. This caused so much pain. He would cry and scream.  I held myself together as I wrapped him again and rocked him, holding back my tears, until he fell asleep and was in bed. Then I would excuse myself to lose it for a bit. I never have let my children see me lose it. I put on a strong and brace face through the day, and at night, when everyone was asleep, I would let it all out and finally fell asleep praying to wake up from this nightmare.

You may assume because Gabriel’s skin isn’t attached he would just sit around and sulk. However, that idea couldn’t be more wrong. Gabriel is a soldier, he is a fighter (just like his name) he is happy and playful. Gabriel is our rock! His laugh brings smiles to everyone. He talks a lot (much like everyone else in our family), he is aware of what makes him hurt and will some days avoid situations that would hurt. He used to sit down when other kids came his way to avoid being knocked won. However, other days he is unstoppable. He appears to have no fear. Yes, he does get hurt, but after we wrap him again and fix the boo boo he is off again. His strength amazes me everyday. He is a normal little boy who is growing up too fast.

Two years later, Gabriel runs, jumps, and laughs just like any other toddler. He and his sister and his cousin are always playing and getting into everything. Gabriel still blisters daily and the humid Alabama weather isn’t helping at all. He has his good days and he has his bad days. After two years of EB I have finally learned to cope with it. I’m not accepting EB. I refuse!! I will not accept defeat. I will not lay down and give p saying this is it. EB is our life! We will beat this we will find a cure!

Gwendolyn Eubanks

I am Gwendolyn Eubanks, mother to two amazing children. Maddison is the oldest and non-EB, and Gabriel, who has Epidermolysis Bullosa, Dominant Dystrophic. Gabriel is happy, strong and fearless. Through the bandages he still laughs and plays. Everyday with him is a new adventure. There are twists and turns and dramatic scenes. But at the end of each day my husband and I kiss our children good night and sing Twinkle Twinkle Little Star just like other families do. If EB has taught us anything, we have learned to enjoy every single moment with our kids.