Hunter was born on Tuesday June 22, 2003. A beautiful angel that we had welcomed into this world. Everyone told me that my life would change, but I had no idea how much until I had my sweet prince.
When Hunter was 7 days old, I was so happy to bring him to my job and let my co-workers meet him. When one of my co-workers pointed out that there was something on his finger it took me by surprise. He had a giant blister on his little 7 day old finger that looked greenish. I brought him to the doctors that day and they asked if he was too close to a heater, it was June, no heaters needed. They said it was a blister and to do a warm soak 3x a day, apply Bactrian; keep covered and come back for a re-check. We continually put cream on it as they suggested and kept it covered with a sock. It cleared up eventually. There was no test done, no explanation, nothing.
Now, I know what the blister was.
Fast forward to about 3 years of age, Hunter started to develop what looked like bug bites. We brought him to the family Dermatologist and he thought they were warts, so they would freeze or burn them off. As the years went on, more random spots would develop as he turned 4,5,6,7, 8 years old.
Hunter was starting to have trouble sleeping because of the intense itching causing him pain and bleeding. I knew something wasn’t right but I didn’t know where to turn. Why were these “things” just popping up. What were they? What was going on with my child?
September 2010, Hunter was 7 years old and we were at a birthday party. A family member was extremely concerned about Hunter’s skin and asked me what was going on, I felt terrible because someone else pointed it out. Somehow that day made it real that something else was really going on. That next week we went back to the Dermatologist and he suggested he see a Pediatric Dermatologist. So we did and the Pediatric Dermatologist froze one of lesions off and did a biopsy. That doctor called me to tell me that Hunter needed to see a specialist at Yale for his skin, that he couldn’t help him anymore.
I felt helpless, what was going on that he needed to go see someone else. Why can’t he help us? He gave me the name and office to call.
We go to see Dr. Antaya at Yale Dermatology, a Pediatric Specialist in Dermatology. I remember that day like it was yesterday. Driving there, parking, walking through and looking at the board for the doctor’s name. The first thing they say is, “So here is the famous Hunter!”
I knew he would give us a cream and it would go away and we would go back once a year for a re-check. I wish that was the case. Our first appointment was a lot to take in. Dr. Antaya and his incredible nurse Jill were wonderful, they did a full exam of his skin and asked a lot of questions. We started with a plan, which included a biopsy and genetic testing.
He talked about 2 possibilities of what it could be. When he said it’s a possibility it could be Epidermolysis Bullosa, I didn’t even know what he said. It was a mumble of words. But, it wasn’t going to be something I never heard of before, nope, not going to be that. When I left the office I was so happy I had someone to finally help us, but on the other hand I was slowly dying inside. The unanswered questions were just starting. What was going on and why? As we waited for the results of the deep skin biopsy and the genetic testing, nights were getting tougher for Hunter. The itching was very intense. It was like a tiger attacking his skin.
Cleaning skin off the couch and bed is a daily routine for us, cleaning blankets and clothes with blood on them is something that happens daily. The nights got worse, with the itching came minimum sleep at night. Trying to comfort him, hold him close and all I wanted to do was to tell him to stop, but I couldn’t. It just wasn’t that easy.
A few weeks went by, then we received the long awaited call from the doctors office. The results of the genetic tests came back. I held my breath. They said it’s positive for Dystrophic Epidermolysis Bullosa. I just sat there and listened. I was numb. I went home went online (which you should never do after getting medical news, and the doctor instructed me not to go online and read about it.) I read and read for hours and still felt lost. Still to this day, I can read the genetic testing over and over and I feel completely lost.
After having genetic counseling about Hunter’s EB, we decided as his parents to get genetic testing done ourselves to see if either one of use was a carrier. Results are each of us are a carrier. That is rare for that to happen. If we wanted to have other children there was a 25% chance the child would be affected and 50% chance the child would be a carrier. We did have another child in September 2012, a sweet baby girl named Sophie. She was tested at 4 weeks old and she is a carrier, but she is not affected. Hunter picked his sisters name and would often tell me to please make sure she doesn’t have EB, because he didn’t want her to go through what he went through.
Today Hunter is stable. His EB is life altering not life threatening. He is still struggling with the itching and sleeping every single day and night. We are currently trying out a new medication that has some side effects. We have tried several medications and creams and we continue until we find what works for Hunter. On our FAQ’s page we have listed some of the medications we have tried. Hunter underwent surgery for his EB on his left hand in November 2012, as well as Electromyography, EMG which measures the electrical activity of muscles. We have recently added some new procedures at night such as a vibrating pillow, ice packs and a few chilled pillows. Hunter has a great team of doctors behind him to help him. Hunter’s team has been monumental in our lives and they mean the world to us.
Hunter is doing great in school and was recently named the Respect Star Ambassador for his school. He will attend skin camp at Camp Discovery again this August in upstate CT. Although it’s been a very tough road the past few years, the love and support shown towards Hunter from family and friends has been wonderful. Hunter has a way of touching everyone’s life in a very special way. We are so very proud of Hunter of how strong and brave he is and with everything he has accomplished. He continues to amaze us every single day.