Unbelieveable!

Today we had our appointment with the orthopedic surgeon, Dr. E. We originally scheduled the appointment as we were concerned that Emma was not able to walk due to hip rotation. 5 weeks ago she started walking, but we kept the appointment for two other reasons: the torticolis in her neck and curve in her torso, and the asymmetry in her skull.

As it turns out Dr. E. specializes in scoliosis and torso, so he really had no insight into the skull concerns, but did say genetics might be able to help.

With regard to the torticolis - I'm going to get technical, so stay with me...

Infant Torticolis is defined as such: When babies are born with infant torticolis they have neck muscles that are too short and tight. This limits their free head motion.

If this condition is not treated it can worsen over time. The shape of the skull and spine can change and this will put unneeded pressure on the eyes and brain.

When Emma is awake she has a slight tilt of her head to the left, but when she is tired her head practically lays on her left shoulder. We always thought this was due to tight muscles on the left side of her neck.

Dr. E said that in general torticolis just means having a bent neck. It can be muscular, as above, however after examining Emma he did not think her muscles were particularly tight. In fact, she was really well behaved for him and let him move her head all around!! Therefore he wanted to check that there was no underlying reason for her head tilt.

Emma got two x-rays of her neck, right then and we went back in to see the doctor. We were not expecting anything like the diagnosis we got, and I don't think he was either!!

(Stay with me here...)

The cervical spine is made up of the first seven vertebrae in the spine. It starts just below the skull and ends at the top of the thoracic spine.


The first two vertebral bodies in the cervical spine are called the atlas and the axis. The atlas is named after a mythical Greek god who supported the weight of the world on his shoulders, because this is the vertebral body that supports the weight of you head. The atlas and axis vertebrae in the cervical spine differ from all other vertebrae because they are designed primarily for rotation.

What the x-ray revealed is - wait for it - Emma is missing the atlas vertebrae!! This important bone appears to have been fused with the bone at the base of the skull, or something - the Dr. didn't know!

While this seems to explain why Emma is unable to support her head when she gets tired, we aren't really sure of the other implications, or if anything can be done about it. The next step is to get a CT scan of the area done, which will be next Wednesday and then we will go back in September to see a colleague of Dr. E. who specializes in this area.

It is possible that this could be linked to her microagnathia (small or recessed jaw) and the asymmetry in her skull - we don't know. Her cranio-facial surgeon Dr. B. responded to my email about it and said "We have seen this not uncommonly in children with facial syndromes."In fact this appointment raises more questions than it answers!! Part of me is wondering if this was the right time to start down this path, however we could have just assumed it was muscular and never done anything. One thing's for sure, we've opened a can of worms, but if it will help Emma it was worth it.

We are not emotional over this news, mainly because we don't know what it means, but we were already aware that much of Emma's condition would be revealed over time. We are praying that this will not have too much impact on Emma's functioning - she is already defying the expectations, and when I called her physical therapist she couldn't believed how well she was doing given this information!!