Xander

Name: Xander Stuhan Stowe

Form of EB: Junctional (Non-Herlitz)

Born: March 18, 2001

Parents: Brad Stowe & Venus Stuhan

About Xander:

I was very nauseous for most of my pregnancy and lost weight in the first few months. By the second trimester things seemed to calm down. I started gaining weight nicely and enjoyed the feeling of the growing life inside of me. I remember Xander being very active in utero. I would often remark to Brad about how busy Xander had been during the day only for him to continue being very active throughout the night. After weeks of poor sleep I finally took some Tylenol PM to help me sleep as my little boy moved restlessly inside of me. I knew he was very active, but didn't address the situation with my OB because my friends reassured me that it was just a good sign that he was healthy. The likely reality of why he was so restless haunts me.

My membranes ruptured two weeks before my due date as I sat in bed watching the

Venus in the beginning of her third trimester of pregnancy.

news with Brad. I sat up most of the night feeling pretty good experiencing what I would best describe as menstrual cramps. After very little rest, I began the morning by engaging in a large breakfast and went for a walk around the neighborhood with a friend. By lunchtime we decided that we had better prepare to go to the hospital, but first I had a nice lunch. Once at the hospital it was quickly confirmed that my membranes had indeed ruptured. (To this day, I believe it was one of Xander's long, thick fingernails that tore my membrane.) Unfortunately, I didn't progress much once I got to the hospital and the hardest part of the journey lay ahead. I was determined not to have any medication, so I worked on my breathing and enlisted the help of a birthing ball and Jacuzzi tub to ease my lower back pains. Eventually I gave in to exhaustion and received an Epidural!

After 39 hours it was finally time to deliver Xander! In spite of the long labor, the delivery only took 20-25 minutes.

Father's Day: One of the few photos of all three of us!

The first clue that something might be wrong was a visible blister on the crown of Xander's head. His head would appear, but because I was so tired and couldn't push hard enough he would disappear back inside of me again only to partially reappear a few moments later when I got the strength to push again. I remember everyone telling me to touch his head so I could get a better idea of how close he was to being born, but I didn't want to touch him. Perhaps it was a mother's instinct that told me I shouldn't. When Xander was finally completely delivered the doctor put him on my abdomen as I had requested, but before I could even lift my head to see him, the nurses had taken him away.

I never saw him directly following birth. Instead, I saw about 15 people rush into the room and begin to work on Xander. His Apgar score was only 2 at birth. Once they got him breathing he received an 8. They rushed him out of the delivery room very quickly and I was left to deliver a placenta that didn't want to detach.

The very first time I saw my baby, a few hours later, he was in the highest level NICU nursery already bandaged on his arms and legs with IV s running into his belly. They let me hold him for a few minutes as I cried. Xander was born missing about 50 percent of the skin on his little body. His hands and feet were completely raw with many other large raw areas along his arms, legs, and other areas.

Xander wearing a kimono sent to him in an EB care basket.

Fortunately for us, there was a Neonatologist on duty who had seen a baby born with Epidermolysis Bullosa (EB) earlier in her career. Also, a dermatologist was present who had studied under a doctor who specialized in doing skin grafts for children with EB. I heard what the doctor said when he told me what he thought was wrong with Xander's skin, but I certainly didn't understand it.

The dermatologist ordered an electron microscopy test to substantiate that Xander had EB. The results confirmed EB and seemed to indicate that it might be the Junctional subtype. We then forwarded a skin biopsy to Dr. Fine in North Carolina for confirmation. The first biopsy was not performed correctly so the results were inconclusive. The second skin biopsy led to the diagnosis of Junctional non Herlitz EB. This is an autosomal recessive genetic disorder. Specific information about the different subtypes of EB is available on the Ebinfoworld website.

With everything we have learned about EB in the past year we feel that there are still just as many questions. We have no family history of EB. Fortunately, Xander continues to do very well. The most regularly affected areas continue to be his hands, feet, mouth, head, nose, and anus. He has blistered in virtually every part of his body at one time or another. Xander is eating formula almost exclusively with the assistance of a special bottle. We try to get him to eat regular baby food, but he refuses it most of the time. We are fortunate that his weight is very good and he is extremely happy in spite of the constant discomfort he experiences.

Xander @ 7 mos. old.

Before Brad and I could leave the hospital with Xander we were both pseudo-certified as able to manage his wound care. Once we got home the daily grind began. It was a constant search for new blistering that we could lance and prevent from becoming huge puss filled masses that would encompass an entire hand or foot. We couldn't bathe Xander due to the pain he would experience from water on his open wounds, so we began sponge bathing him the best we could. He also lost all of the skin on his bottom and abdomen, so diapering was very challenging.

I had dreamed about how wonderful the breast feeding experience would be, but this was impossible since Xander blistered badly in his mouth. Instead we fought to find creative ways to get food in him without him having to suck. We tried everything from dropping milk into his mouth with a syringe, to using a special nipple for babies with a cleft palate, to orthopedic nipples that we could cut a larger hole into and apply Vaseline around the base. To this day, Xander continues to use a special Mead Johnson bottle that we can squeeze so that Xander doesn't have to suck as hard. One of the most important things I have learned is how important nutrition is to children with EB. We give Xander a protein powder supplement, adult liquid Centrum, and an oral zinc supplement to help replace what he loses through the open wounds.

Having a newborn is difficult for parents. Having a newborn whose skin blisters or tears due to friction, heat, or humidity is maddening. We questioned daily whether or not Xander could do certain things that most parents take for granted like riding in a car seat, sitting in a swing, and wearing onesies.

Xander @ 12 mos. old standing in his playland. Working on healing a nostril that has been bloody for several weeks.

Every time we experimented with things we were left to wait and see the consequences.

After Xander was a few months old and we became comfortable enough to venture out to a store with him. We then had to endure the barrage of questions from shoppers. We have seen people begin to approach us only to then scrunch up their face awkwardly and quickly turn away once they see that something is wrong with our son. People have commented that he must scratch himself a lot, or think that he has chicken pox, or simply not know what to think.

Most of the time, people just don't get it! They don't understand how pervasive and permanent this is. They make silly attempts to compare what Xander is living with to relatively minor conditions. Many people simply cannot accept that he will not outgrow this and that most children with this condition do not live a normal life span.

When Xander was a newborn, I didn't know if he would live to see his first birthday. Now, I know that he will likely see many more. I have also learned that he can and will do far more than I ever imagined. There will also be much physically that he cannot do. The fact remains, he is a tremendous little spirit and an inspiration to his parents, family, and friends!

Email Xander's mommy