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 http://www.caringbridge.org/visit/nickyz (you need to log in to view it, but it’s free).
A Journey Into Motherhood
By Silvia C.
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, I really need some sleep tips from Harvard. 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, so I decided it was time I get rid of this methadone drug, so I signed up for a methadone detox program based out of Florida to fix the problem once and for all.
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.