Welcome and Claire's Diagnosis

Thank you for coming and learning about Claire's diagnosis. I think this will be the easiest way for people who are interested in what's going on with Claire to stay updated.

We had an appointment in mid-February for Claire to get a flu shot and discuss her continued dairy issues at her pediatrician's office. While there, her pediatrician noticed the vertical ridge on her forehead. The ridge is something Kyle and I had noticed since birth but not thought much about. The pediatrician said that she would like us to see a plastic surgeon about it and that it could have to do with the bones in her skull fusing prematurely. Honestly I planned to follow up on it but thought it was no big deal. Later that night we started to get worried and started googling.

By the time we were set to see the plastic surgeon we were pretty convinced that Claire had metopic craniosynostosis (said like: muh-TOP-ic CRANE-ee-oh-sin-oh-STOW-sis), but were also convinced it was very mild and would not need any attention other than possibly becoming a cosmetic issue for Claire down the road. The appointment was on February 28th and the surgeon confirmed that Claire has craniosynostosis.

He explained the condition, much of which we already knew thanks to our research. When you're born your skull is not one piece but is made of several bones. The bones are separate to allow for the rapid growth of the brain during infancy. The areas between the bones of the skull are known as sutures. The suture between the two front-most bones is called the metopic suture. The metopic suture normally closes between 3 and 9 months of age. Claire's metopic suture closed before she was born. No one knows why this happens but it could be due to her position in the womb. When a suture closes, the brain cannot grow properly in that area and the brain and skull compensate by growing abnormally in other areas. This causes an abnormal skull shape. It can also cause too much pressure on the brain which can lead to seizures, blindness, developmental delays, and other problems.

We do know that there is not elevated pressure in Claire's skull because her fontanelle (soft spot) is not bulging. We are also very happy that she has met all of her developmental milestones on time so this condition does not seem to have affected her development (yet).

When any other suture closes, or more than one is closed, surgery is always needed. But for the metopic suture it is more of a gray area. Some children just have a ridge like Claire's and their skull is really not otherwise affected. In that case surgery is not needed. We thought that this would be true for Claire. However, it can be difficult to determine the extent that the skull is affected. Kyle and I were actually quite surprised and sad to hear the surgeon tell us that he believes Claire will need surgery. He pointed out some features to us such as pinching at her temples, slight bulging above her ears, and slight widening of the back of her head. These characteristics are called trigonocephaly because of the triangular shape the forehead takes on. For many children there is a very pronounced triangular shape and their forehead looks like the bow of a boat from an overhead view. Claire's is not quite so noticeable. The doctor ordered a CT scan so that we can have a better idea of the effect on Claire's skull and brain.

We are currently waiting for approval from our insurance to have the CT scan. At that point we will know more about her prognosis. Because her craniosynostosis is the metopic type, we could have a difficult decision on our hands. If surgery is needed it will probably be before she is ten months old. That would be within the next two months. We plan to get at least one other opinion once we have the CT scan.

Right now our minds are going in a million different directions, we are scared, we are worried, and we just wish we knew what to expect. We are grateful that Claire is alright and we know that there are much worse diagnoses we could have received. However, the prospect of having her skull removed and reformed is more than just a little unsettling. We are looking forward to knowing for sure what we will do and moving forward. For now, my job search is on hold and I will remain unemployed until we can get this taken care of.

We will use this blog to keep people updated as to what we have learned and where we are headed with this. It doesn't seem likely but maybe in a few weeks I can just say, "We don't need surgery! Blogging done!" We'll see. Please feel free to leave any messages or questions in the comment section.

-Kyle, Jill, & Claire

P.S. If you want more information the wikipedia article for craniosynostosis is actually quite good.