Hi. My name is Zane. I am 14 years old, and I am affected by Ankyloblepharon-Ectodermal Defects-Cleft Lip and/or Palate (AEC) Syndrome. I like to read, spend time with my friends, and recently built a gaming computer. I enjoy trying different sports and played basketball this past season.
I was born at 35 weeks 5 days by unplanned c-section. As it turned out, I was ready to make my entrance, but couldn’t take the standard route. While I was born early, I weighed in at a whopping 8lbs 8 ounces. My mom had several epidural steroid injections when she was pregnant with me. Bad news for her, good news for me because the steroids had an effect on my size and my lungs.
My dad was in the room for the c-section and as the doctor handed me to the nurse to be weighed, my dad looked up and said, “He’s affected. He has AEC.” That might seem like a strange thing to say when your son is born, but my mom has AEC, too, and dad knew what to look for. When the doctor said, “You think so, dad?” he replied, “Yes. His right eye isn’t opening and he has skin erosions.” It turns out I had skin erosions on my scalp, across the back of my shoulders, down my spine, and across the back of my hips. Dad also pointed out that my nipples weren’t typical. The doctor later told my mom that the c-section likely saved my life because a natural birth would “scalped me.”
Although the high risk doctors told my mom that I likely wouldn’t be affected by AEC, because there was no visible clefting on ultrasound, my mom worked with the nursing care coordinator to establish a plan of care for me weeks before I was born, just in case I had AEC. The hospital pretty much let mom dictate my care in the special care nursery because she was the resident expert on AEC.
The newborn shirts in the special care nursery rubbed erosions on my shoulders, so mom told them to just swaddle me. They put a little cap on me once, and when they removed it, it took quite a bit of hair with it so they didn’t try that again.
The nurses in the Special Care Nursery put a little bear sign on the side of my bed and wrote “Please Handle Me Only When Necessary” on it. They also had a little sign in there that said no tape, band-aids, etc. One of the nurses told my mom to only hold me when necessary. My mom knew that touch is the first language that a baby can understand, so she did kangaroo care (skin to skin care) with me. I spent four days in the Special Care Nursery, but most of that time I was actually in my mom’s room.
As I mentioned my right eye didn’t open properly when I was born. It was banded, but not completely fused. I had that fixed when I was 7 days old in the ophthalmology office at St. Louis Children’s Hospital. When I was younger, bright lights hurt my eyes, especially the right one, so I’d squint it closed if I didn’t have sunglasses outside.
When I was six months old, I had a right inguinal hernia repair, along with having ear tubes placed, and my tear ducts flushed. I was actually born with all of my tear ducts, unlike the other AECers in my family. I also had a left inguinal hernia repair and distal hypospadias repair when I was 18 months old. Apparently, premature infants have a high incidence of inguinal hernia and that’s not really related to AEC. The distal hypospadias is likely related to the AEC. I’ve had several sets of ear tubes and several sets of nasolacrimal stints to try to keep my tear ducts open.
When I was 7, my ENT was going to replace my ear tubes because they’d become non-functional. When he had me in the operating room, he discovered that my ear canals had closed in front of my ear drums in the short time between our office visit and surgery date. Because of that, I had surgery on my 8th birthday (yes, on my birthday- it’s the second time my mom scheduled surgery on a birthday) for bilateral bone anchored hearing aid (BAHA) implants. When I was 9 my right ear canal miraculously reopened. When I was 10, the left one reopened. I pretty much quit wearing my hearing aids, unless I was having a bad sinus day where they helped a bit. The BAHA sites chronically became inflamed and the skin kept trying to close around the studs. It finally closed around the right stud when I was 12, then around the left stud when I was 13. I have an audiology appointment coming up soon, and my hearing is depressed right now, but I think I’m going to ask my ENT for other options because I don’t want to deal with sore skin around my BAHA studs all the time if they uncover them.
I was also diagnosed with mild scoliosis when I was 13. It’s pretty much straightened out since I had a growth spurt.
I actually have about 15 permanent teeth, which is more than any of the other AECers in my family. I am in the process of getting my first over denture for the upper. My mouth isn’t big enough for an overdenture on both the top and the bottom. We tried but I couldn’t breathe with both in, so the prosthodontist said lets go for the upper as it will aid my chewing the most. The overdenture is a temporary to help me out until my jaw is done growing. Then I’ll need to have my upper jaw broken and moved forward, just like my mom had. We’ll talk about dental implants after that.
When I was younger, I was on the swim team, and the chlorine helped keep my skin erosions from getting infected as much. Overall, my skin holds up pretty well now. I occasionally get open areas on my hands, but not much. My feet hardly ever break open anymore, but they stay pretty dry. I do have hyperpigmentation in some areas, and hardly any pigmentation in other areas. My nails are malformed and sometimes peel easily.
I don’t grow much hair on most of my body, so my skin stays pretty smooth. I only have a few eyelashes and partial brows.
As far as sweating goes, I didn’t sweat at all when I was younger. I just overheated and turned bright red. I do sweat a little bit now, mostly on the sides and back of my head, occasionally on my back and also on my feet.