There really isn't much information on the internet that I found particularly helpful, I don't think it's one of those things that is well understood medically, last time I looked I don't think doctors or scientists have decided on the cause, I was born with this condition and obliviously I want to know more information about it.
(like what are the chances of my future children being born with the condition, is there any thing I should be looking out for as I age?)
It must be horrible if you've been told that your child has this condition and like me turn to the internet and find very little information and while I can't show you your future in a crystal ball or even really tell you what to expect or where it came from I can tell you what I've learnt and what it was like for me.
Craniosynotosis is a cranial condition (condition of the skull) in which the fibrous joints in the skull fuse prematurely.
Basically when a child is born the skull has soft spots which allow the bones to move about as the child grows so if these joints have fused that obviously means the skull can't move or grow properly leaving the child with a deformed skull among many other things.
The infant skull is made up these sutures and they are meant to close at various different points in a baby's life but if the child has craniostenosis any number of theses can be closed.
As far as I know I was born with bi-coronal which is the two joints on the side of the forehead, so the skull was round (I would describe a normal baby's skull as bean shaped, kind of long and narrow ), I was diagnosed at 6th months when my parents took me to the doctors for issues involving my anus which is apparently related to craniostenosis
(it was quiet sad really, as a baby It would take me days to pass my waste and I would cry, I had to have surgery for that, different cases have different symptoms, there is syndromic and non-syndromic and non-syndromic don't usually have any other symptoms other than the skull deformities, I'm unsure as to what I have exactly but because it runs in the family and I had skull and anal deformities I presume it's syndromic. )
From the doctors I was sent to specialists and was eventually diagnosed I had both my opetayions at Great Ormond street hospital in London, I seem to have been lucky as the condition can often effect hands, feet and brain development among other things, for me everything seems to be fine now, I also had surgery as a baby on my head to relieve pressure but I was so young I don't remember it.
I believe my scalp was cut open from ear to ear for my operation so my skull could be re-shaped and now I have a scar from ear to ear.
(thankfully I'm a girl with thick long hair so you can't see the scar normally)
Of course the closure of different sutures have different effects, my aunt for example only has one coronal suture closed and didn't need operating and just has a slightly uneven head. (I will get to her later.)
If the top suture is closed the child could have a narrow elongated head like a boat or if one of coronal suture's is closed (like my aunt) the haed would be lopsided and would appear bigger on one side, there is a horrible form of Craniosynotosis where a number of sutures or all of the sutures are closed and the skull bulges out from the joints and the birds eye view of the head looks like a flower or star which makes me really feel grateful and appreciative of what I have, there are many different types.
Not an awful lot seems to be known about the condition and there seems to be no clear cause however 6-11% of sufferers have some one else in their family with the condition so it could be genetic, there are so many different forms of the condition too, some worse than others.
The condition is often coupled with deformities of the extremities like fused or deformed fingers and toes, according to my parents the doctors were surprised my hands and feet looked okay, I have small hands and feet and fairly short and slightly wide thumbs and big toes, one of the syndromes include things like cleft palates.
Because of the nature of the condition things like breathing, hearing and eyesight can be effected, many suffers have flat faces and wide set and/or bulging eyes like in the crouzon syndrome (a severe form of craniosynotosis).
I would like to say that for me growing up was fine, obviously everyone is different but I have no memories of surgery or anything and I didn't need any more operations after the first two as a baby, I was finally discharged from great ormond street at 17 and despite having to visit the hospital for check ups and the orthodontist nothing particularly horrible happened to me.
My aunt never had an operation, she diagnosed at a later age than me and she didn't want the operation, It wasn't necessary and she too is fine, although she regrets not getting the operation, so far no body else in my family has been diagnosed although my dad has signs of facial asymmetry and short broad thumbs.
To be completely honest it was so much worse for my parents and I feel so guilty about it, they are the ones who remember everything and had to deal with it while I don't remember anything horrible, I would like to thank Great Ormond Street hospital for making my experience enjoyable, I think that the treatment is worth while and would recommend it.
If any one has any questions or has any information feel free to comment and I'll get back to you.
