Antonio

Name:  Antonio Torres

Date of Birth:  November 26th, 2000

Type of EB:  Recessive Dystrophic

About Antonio from  his mom:

     My story starts on Thanksgiving Day 2000 because my due date was December 1. The whole family decided to come to my house for Thanksgiving Dinner. Everyone else did the cooking and I sat back and relaxed. I was hoping to stuff myself enough so that I might induce labor. I was ready, I could not take the backaches, the pressure on my bladder, the usual "I’m so big and un-comfortable" feeling you get towards the end of the pregnancy, the anxiety of wanting to finally meet that little guy that has taken over your body for the last 9 months. My brother and his girlfriend brought me this beautiful outfit from Lord & Taylor, it was so adorable that I decided it would be the going home outfit instead of the one already packed in the diaper bag. I remember thinking to myself: wow that has to be at least a two hundred dollar outfit that the baby would probably only wear once or twice before outgrowing it or spits up on it having had this experience with my first child!

     The next day I started having mild back labor but nothing strong enough to send me to the hospital or maybe it was that I had eaten too much turkey the day before, I don’t know, but anyhow, I started doing my last minute baby preparations, re-washing and re-folding the clothes since it had been a month since the baby shower and I wanted to make sure everything was fresh and clean for the new baby. Throughout the day and night the contractions started getting stronger and more frequent, by midnight we were on our way to the hospital, when I got there I was already 3 cm dilated so they sent me up to labor and delivery and I received the epidural and waited until 10cm. Then the pushing began.

     On November 26, 2000 at 3:14 am my angel Antonio was born. When he was delivered I noticed the skin was missing from both his knees, it looked as though they had been burned off, and I immediately got very scared and asked the Dr. if he had ever seen anything like this in his career and he said he had not seen it, but that he had heard of a child born like this. He also said that he thought it was some kind of dermatitis or maybe a reaction to something I may have been exposed to during the last 8 weeks of pregnancy, so then they started to have me make a list of everything I could think of, foods, cold formulas, paints, household cleansers etc. etc.

     They took my son to the N.I.C.U for an assessment and to observe him for a while, and just like every other baby they put him under the warmer and attached a heart monitor to him, well he screamed and cried and proceeded to kick the skin off the heels of his feet. At this point I really started to worry because I couldn’t imagine why his skin was so fragile and neither could the nurses or the doctors. They decided that since he had not stopped crying from when he was delivered until that point, that we would try to settle him by nursing. Our first nursing session went fairly well considering he latched on and immediately fell a sleep but he was calm and quiet and actually seemed very comfortable and I held him for what seemed like hours. I kept looking over his whole little body and started noticing different area's where the skin was missing or there were spot's of blood on the blanket he was wrapped in, also his lips seemed like they were blistering and several of his fingernails were darker then the rest at this point I could not stop crying and thinking what is wrong with my son, he was literally disintegrating before my eyes. His nurse knocked on the family room door and suggested I go and get some rest since he was sleeping and that they would be calling me back to the NICU when he woke up to nurse again.

     I went back to my room and cried and kept wondering if my little angel would be ok. I finally fell asleep only to be awoken by the telephone, they said he had been awake since I left and they had been trying to calm him but that he was not settling down maybe I should try nursing again. When I got back to the NICU I noticed there was a blister on his chest about the size of quarter and that there was another on his elbow and also his lips had some blood on them the nurse put some Vaseline on his lips and we tried to nurse again, he latched on and nursed for several minutes and went back to sleep so I thought maybe he would be content enough and stay sleeping, well as soon as I returned him to the warmer he started screaming and crying and I kept looking at his raw little knees which to me looked like burns and I kept looking at the warmer which looked like a French fry-o-later at McDonalds and I said to the nurse that I thought maybe the heat was bothering him, if they could shut it off or maybe put him in an isolette and also could they put something on the knees for protection and maybe swaddle him in a blanket because he seemed to settle when he was all wrapped up in the blanket. They did finally remove him from the warmer and put him in an isolette and I asked about the knees again and she said she couldn’t do anything without orders from the doctor but that she would check to see if they could get something written, also she informed me that every morning all the Doctors come into the NICU to do rounds and that they would collaborate some type of a plan for him, however since it was a Sunday they wouldn’t be doing rounds until 11:00 am. I finally insisted they give him some type of sedative or pain relief and they did and he finally settled down and went to sleep. I was so afraid to leave him now because every time I did I would come back and find him worse then when I left but they assured me he would be fine and that I should get some rest while he was sleeping and that they would call me when he woke up. 

     At 11:00 I had not heard anything so I went to the NICU and they told me I would have to wait until after rounds before I could enter his area of the NICU and so I waited for what seemed like an eternity, then they said it was ok to go in and see Tony. As I walked passed the first pod I could see the Doctors doing their rounds and I was glad to see that there was about 30 or more Doctors going from patient to patient I figured with that many Drs they should have been able to figure out what was wrong with my son. When I got to his isolette I was horrified at what I saw, the blister on his chest was now the size of a baseball, both elbows were raw, the tops and bottoms of his feet were raw, his knees still weren’t covered and one finger was completely raw with the skin all bunched up around his finger nail and both butt cheeks were raw. Immediately I demanded that they do something for him, I was no doctor but I thought his wounds looked like burns and thought they should be wrapped in something like what they would use for burns. Finally the NICU Attending Doctor came to talk to me and she said they would not have a definite diagnosis until they did some biopsy's but that they thought there were three types of diseases with his symptoms and then she started to explain each one. They also were afraid of bandaging him because they thought it might break down more skin. At that moment I thought I was going to explode and I did, I told them that I wanted them to treat my son like his wounds were burns until they determined what was going on and that if it made his skin worse that was a chance I would take!!

After three and a half hours of bandaging my son looked like a mummy and he had been screaming the whole time I was afraid to pick him up and I was afraid to leave him alone but I knew we needed to bond and also he needed to nurse, we went to a private nursing room and he nursed for a while and then fell off to sleep, he was so content and relaxed and looked just like a little angel.... My Little Angel. I stayed with him until after midnight and his nurse finally convinced me that I should get some rest and since they were sedating him he would probably sleep a while. Also with all he was going through I allowed them to bottle feed him if necessary.

     The next day the Attending Doctor asked to speak to my husband and I in private, so we went into a conference room and she explained that they thought my son had a very rare skin disease called Epidermolysis Bullosa and that they also thought it was the fatal type but that they would have to do a biopsy to determine the exact sub-type. She also told us they didn’t think he would survive and that we should start preparing ourselves for the worst. They were afraid that since he had so much skin loss that he could possibly get an infection or dehydrated and wouldn’t be able to fight it off. We went back to our room and cried and held each other and I remember saying if only he were a puppy or something that you could just have put to sleep to prevent all the pain and agony that he would have to go through but he's a real live human baby boy and that was not an option. I also felt that if we gave up on him he would give up too. So from that day forward we've never given up and neither has he....

     At seven days old he had Apligraf done on his knees and top's and bottom's of his feet. I referred to it as a biological bandage because it closed him up long enough to allow his own skin to heal underneath it and he did not get any infection or dehydration. After twenty-seven days in the N.I.C.U and two days before Christmas Antonio came home. He was the best present anyone could ask for. After a year and six biopsy's it was determined that he has RDEB. He is now almost five years old and leads a pretty productive and normal life. Well... as productive and normal as living with EB can be. He goes to full day pre-k with a one on one nursing assistant. In spite of all he goes through he has a very sweet disposition and is always happy and smiling.

     As a parent and caregiver of a child with EB everyday is an experience within itself, not knowing what lies ahead or where tomorrow may take you with this horrible disease. Some advice I have to offer is to stay informed and be innovative get connected to all of the services available such as Dermatologist, Nutritionist, Gastrointestinal, Plastic surgeon, OT’s, PT's, Dentist and Podiatrist.
     Nutrition has been a major factor for us with healing and with most EBers. We have had great success with all natural foods and food supplements because of the mouth and esophagus involvement it can be difficult getting allot of foods in. Most important is to allow them to be who they are and let them set their own limits. If you wish to donate money or find out more about EB, we would appreciate your visiting the following national organization’s websites that are looking for a cure. Thank You

www.ebinfoworld.com 

www.debra.org 

www.ebkids.org 

www.ebanusa.org          

Email Liane