WHY???

When Ted was born some 16 years ago his metopic craniosynostosis was a shock to everyone involved. It required a craniectomy which is the surgery Lily is recommended to have. The doctors involved chalked it up to a fluke- nothing more than an isolated case of a change in the pattern of early development which would be of no consequence- do the surgery and move on...
When Lily was born with the ridge in exactly the same place as her big brother we had to wonder why. We spoke to the neurosurgeon and later to a genetic counselor who agreed there was a difference in the way the bones came together but that it was a different trait - like a cleft in the chin. It makes for a different appearance but otherwise inconsequential. Okie dokie and away we went...
Now clearly with the third child and two different wives :-) something genetic is amiss and they are recommending surgery. EEEKS.
So we went to the geneticist at Riley. Here is the gist of what was found- at least so far.
This is the story of the visit.It was like 2 1/2 hours long. They stripped the girls down and checked everything you can imagine looking for a syndrome. They found some common traits although the gist was it was likely nonsyndromic. Some of these traits were unibrown (They totally got that from me I'm sure :-), slightly crowded toes, a fat role in their forearm (which is just stinkin cute so whatever), posteriorly rotated ears on one side, flared rib cage, and a few stork bites/angel kisses (red marks that are benign and usually go away)...Apparently non syndromic metopic craniosynostosis is located on the FGFR 1 gene where as syndromic is usually on 3. It can occur through a mutation or be heritary and it is autosomal dominant so an affected person has a 50/50 chance of passing it on to their children. This is the highest chance for most genetic conditions- at least the dominant ones. One question I had was if my kids have just single suture cranio might the gene further mutate into a syndrome like crouzons or something and they said no. It could of course but they are different genes so they would both have to mutate and that is very highly unlikely. So I assume if it is nonsyndromic it should stay that way in future offspring. They said there are over 150 syndromes for single suture cranio and several with metopic although they are uncommon. They took the girls' picture for their records and noted the now fairly obvious ridge on my husbands baby picture and that of his father. Mild at the time and certainly not operated on but armed with this insight it was clear to me when I looked at the photographs. Interestingly, they did not have ridges as adults. Clearly our story is a genetic one.
The blood work was done but it takes 4 wks to complete and they are doing all three FGFR 1, 2, and 3 with the "hotspots" only - if they are clean they will do the whole panel. This testing is at least in the $2-3,000 range at the least.
It was interesting in that Bob and I had never sat down and looked at his baby pictures- he totally had a metopic ridge and the narrow temples. AND now he doesn't. The question has been posed, "How do you know the girls' wont go away too?" The surgeons can't answer that except to say that it would appear the girls' is more severe than the others. Also with increased age the bone gets thicker and harder to change so surgery is most successful earlier- usually before 1 year. Couple that with the risk of difficulties to the developing brain and surgery is recommended. But it remains our choice- unfortunately not an easy one.