Shortly after Thea was born, we noticed she had a scratch on her head. More than a scratch, it was like a chunk of skin was missing. Initially the nurses wrote it off as trauma from birth. They were saying it was from internal monitors, however, I didn't have any internal monitors. We thought maybe my OB had somehow scratched her with a fingernail or something.
Later though, when she was all cleaned up, we realized there was longer dark hair surrounding the area. Clue number one that this mark hadn't happened during the birthing process, it had been there a while. Also, it looked like it had already started to heal, more so than if it had just been scratched earlier in the day. Whatever it was we weren't all that concerned. Everything else seemed normal, she just had a scratch on her head.
The next morning we pointed it out to the rounding pediatrician. He asked about internal monitors and if I had an assisted delivery. No sir. Plus again, the dark hair. He briefly mentioned that it resembled aplasia cutis, but brushed it off because those are 'usually circular and found on the back of the head, where the hair swirl generally is'. His theory was that her head had been rubbing on a part of my pelvis, and it was a sort of friction injury. We noticed there was another much smaller mark further towards her forehead, so it seemed to make some sense. That area had been rubbing up against something. Later though, the more I thought about it, the more it just didn't sit right with me. I mean, if her head had been rubbing up against something hard enough and long enough to cause that much damage, wouldn't there have been an issue with the amniotic sac or something? I don't know. But I just wasn't buying it.
Thursday morning a different pediatrician from the practice was rounding, and suggested maybe it was a hairy mole. Lady, it doesn't look like a mole, at all. I played nice though and pretended to consider that option. Christopher and I mentioned the possibility of aplasia cutis, and she also quickly said it just didn't resemble that. But didn't have any other theories.
And this is where the fact that my husband is a doctor and has lots of connections is super helpful. He texted a photo to his previous boss (attending? I have no idea), and told her to ask her husband, who is a pediatric surgeon, if he knew what it was, because apparently he has some super awesome photographic memory. She came back with 'he didn't know, and if he doesn't know it must be pretty rare.' But they were able to pass the photo on to a pediatric dermatologist at Children's Mercy. Who immediately recognized it as aplasia cutis.
Naturally my next step was to google image aplasia cutis. Bad move. It can range greatly in severity. Thea's spot looked much better than what I was seeing on the internet. But it was still scary to see those images. The dermatologist said she'd like to see Thea in her clinic and took down my contact information. Again, so thankful my husband is a doctor and has these connections. We kind of assumed that the appointment was more of a formality, and that she wouldn't tell us something we didn't know. For the most part we understood the spot would heal, and turn in to a little bald patch. A cosmetic issue, but as far as birth defects go it really wasn't a big deal at all.
The hospital called me the Monday after we had been discharged, and scheduled an appointment for Wednesday at noon. I was slightly annoyed that I had to drive back to KC, and that Chris was unable to go with me, but I survived. Thea did great on the drive up, and locating the clinic wasn't as hard as I imagined it would be. We'd been there before for Elsie's asthma allergist appointment, but I am NEVER the driver if we have to go downtown. I hate driving, especially somewhere that I am not familiar with. So my anxiety was a bit on overdrive. Even so, we made it, got upstairs and got checked in. I snapped a picture of sleeping Thea while signing papers.
A nurse came to take us back and we measured Thea. She was up to 7 pounds even and measured 20 inches long. Winning! We were supposed to have a weight check on Friday, but seeing as she was already over birth weight (on day 8, go boobs), I was hopeful we could get out of it. Then the nurse escorted us to an exam room. When the door opened again I was greeted by a resident and a medical student, not the doctor like I was expecting. But hey. My husband has been on that side. I try not to get too annoyed by the educational side of it. The resident was great actually. She knew what she was talking about and didn't seem to stumble during any part of the exam. Props to her. She agreed that it was aplasia cutis, and mentioned that because of the dark hair around the area, they would most likely want some other sort of imaging to rule out any other defects in the under lying tissues. I knew this would probably be the course of action, but I didn't realize the dark hair was even more uncommon to the defect. So that was a bit startling.
They left, and then returned with the doctor, as well as a nurse. Party up in our exam room for sure. The doctor took a couple of pictures for her record, and then examined the spot on Thea's head. While feeling it, she asked me if I had pressed on it at all. I hadn't. I was scared to touch it in fear of hurting her. I know Chris had felt it, but I hadn't at all. She noted that she thought she could feel a slight depression underneath the scabbed area, as if possibly a piece of bone was missing. I was shocked. I didn't want to think of anything being really wrong with my precious little baby. She went on to explain a reason why they couldn't do an ultrasound, I can't remember what it was though. Instead she wanted to order an MRI.
An MRI? For my eight day old little girl? She said on the bright side, because she was so young, and so little, they shouldn't need to sedate her. That I could just bring her hungry and tired, and then just nurse her and she'd probably pass out. That scenario sounded a little less scary. She explained that if there was a piece of bone missing, it was possible we'd need to be referred to a plastic surgeon and a neurosurgeon, because she would be at great risk for infections. I was stunned. I didn't see that one coming at all. She asked if I had any questions, and I think I had a million, but I didn't know where to start. So I just said nothing. I decided until we truly knew what was going on, it wasn't worth worrying about. The MRI was scheduled for 7am Friday morning.
I then spent the next thirty-six hours worrying. Neurologically Thea didn't show any signs of any further defects. She was more or less a dream baby thus far. Sleeping great (in 2.5-3.5 hour stretches of course), nursing wonderfully, basically acting like your everyday average newborn. Nothing made me think there was anything wrong besides the skin issue. But once that seed was planted in the back of my head, it couldn't get rid of it. So I just stared at her perfect little face as much as possible.
Thursday night I didn't get a whole lot of sleep. I didn't have a problem when I went to bed, but once I got up to feed Thea, I had a terrible time getting back to sleep. I started googling aplasia cutis and reading anything I could. I did read a couple of pages that mentioned even when bone fragments are missing, surgery is not often recommended. That in a newborn with a small defect, the issue usually corrects itself by one year of age. It was reassuring. I drifted off around 3am, and was jolted awake at 4:40am by my alarm.
I got myself ready, then woke Thea up to feed and change her. We were out the door by 5:45am. I've had enough of I-70, I don't know how commuters do it all the time, but at least the sunrise was pretty.
We made it to Children's Mercy at five till 7am, got all checked in, and were shortly called back to get set up. Our doctor had ordered an MRI with contrast, so Thea had to have an IV put in. Truthfully it was the part of the whole morning I was most worried about, but we lucked out with a great nurse and she got it in quickly. I was impressed, newborn veins have got to be tough! Then they left us for 20 minutes so I could nurse her. Just as I was done feeding Thea a nurse came back, wrapped her up in a blanket and off they went. Chris and I made our way back to the waiting room.
As the minutes ticked by I got more and more anxious. I knew everything should be fine. She just needed to sleep. I had a slight paranoia that she would have some reaction to the contrast, but I had no reason to really believe that would happen. Chris was reading a book, so I spent some time reading over his shoulder. About an hour later I saw the nurse come around the corner holding a sleeping Thea. Sweet relief. She said Thea had done great, had slept basically the entire time, and only really got pissed when they took the IV out. Way to go baby girl! The told us to expect to hear from our doctor on Monday or Tuesday.
It was only 8:45am when we left Mercy, and Chris had taken the whole morning off, so we opted to go out to breakfast. Thea continued to be a good girl and slept the whole time. As we were finishing our food, my phone began buzzing with the caller id reading 'unknown'. I was surprised when I answered it, and it was the nurse from the dermatologist office. At first I worried that meant there was something bad, but she quickly assured me that though the doctor had not reviewed the scans, the radiologist said everything looked normal. Yay yay yay! I was thrilled.
Yesterday the office called back and said our doctor had reviewed the scans and agreed everything looked normal. I'm so incredibly thankful to hear that! They want to see Thea back in the office in six months, I'm assuming just to make sure the spot is healing correctly and that more issues haven't developed. But now, a huge weight has been lifted off my shoulders.
So what is aplasia cutis congenita? Basically a portion of the epidermis failed to develop. In Thea's case it is a very small spot on her head. The lesion will eventually heal leaving a hairless patch of skin. I'm not sure what will happen with the hair growth around the area. Christopher trimmed the long dark hairs up for me the other day, so really the spot is much less noticeable, and hopefully will be covered by her other hair. The first image shows what it looked like a couple days after we got home. The second image was after the scab had fallen off.
It is estimated that the defect occurs in approximately 1 in every 10,000 births, however because it is generally benign and unknown it is often unreported. It also isn't clear what causes the defect. And it doesn't really matter. Despite her funny looking spot, our baby girl is still perfect. And I love her so much. I'm so incredibly thankful that she is healthy. In the grand scheme of birth defects and things that could go wrong in utero, this is nothing. Well, it is a bunch more medical bills, tacked on top of a year of more medical bills (switching insurance a month before you have a baby + a two year old with asthma + a newborn with abnormalities... oy!), but that's it. We can handle it. :o)