anyone going through craniosyntosis symdromes?

[mel1981]

Been lurking on here for a while as wasnt sure what to post & a bit overwhelmed by everything atm.
DS3 11months is currently going through the process of being diagnosed with a craniosyntosis syndrome and just wondering if there are any other parents who are going through/dealing with the same problem?
He has severe global developmental delay, possibly partually sighted, feeding problems to name a few problems. still going through loads of tests. We are getting a lot of help in a lot of areas- physio, OT, S&L etc but I still feel so lost, theres so much to take in and cope with.

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Hi do you know what type of craniosyntosis, my ds has/had right coronal craniosynostosis, he didn't sit up until he was 12 months, i am convinced but the docs won't/can't confirm he had icp, he had corrective surgery at 14 months and stood up in his cot for 1st time 2 days later, he has since been diagnosed with muenke syndrome which increases his chances of learning difficulties, hearing and sight problems and epilepsy ( he was diagnosed with epilepsy at 6 weeks after hundreds of seizures in 1st 6weeks, however he is seizure free since 2 months old), having said all that he is now 2, walking, talking, feeding himself, the life and soul of everywhere he goes, and is clever as a button, so don't give up hope, our neurologist told us not to have too many expectations of ds when he was 11 months, just over 12 months later he is a different child.

these 2 websits are very good
www.craniokids.org/support/

www.headlines.org.uk/

it is very upsetting to see anything wrong with your child and even more so when it is something you are not famialiar with, but try and stay positive.

Thanks for replying etar. Im not sure of the medical names but its the suture on the back of his skull thats fused (sagittal I think) still undergoing genetic tests but they have ruled out crouzens so far. We arent due to see the consultant again until end of May- I really hate the wait inbetween appointments. Did you find out quite quickly that your DS had right coronal craniosynotosis? Ive heard so many storys of people waiting years to get answers.
We are due to go to the John Radcliffe hospital next tues to see the plastic surgeon & im dreading it. I hate the thought of DS3 having surgery. (I was bad enough when DS1 had the pins out of brken arm last week.) Which hospital did you go to? If you dont mind me asking.
But wow thats amazing that he stood up 2 days after surgery. Its amazing that you got results so quickly. And great that he is coming on leaps and bounds.
I think thats what I find hard the not knowing. Ds3 cant sit unaided, roll over, doesnt really play with toys etc. but hopefully one day...
Thanks for the websites will definately take a look. x

Hi I'm in Ireland, so it was a hospital in Dublin we attended but from the uk moms on craniokids.org there are a few that have attended john radcliffes, my ds was diagnosed at birth with the cranio and then when he had seizures they refered hm for genetic testing which turned up the muenke.

I can totally understand the worrying about the future when you don't know what to expect, but don't give up hope, your ds sounds like mine and the health care in uk is so miuch better than ours so be hopeful and positive.

You'll get lots of support and advise as well from both those web sites.

X

hi im kim, my daughter has sagittal synostisis and is under mr wall at john radcliffe. she is on waiting list for op around sept to jan. im soo terrified i could be sick. id love to chat to you both and support each other.. i really need it

take care

kim

My son has a fused metopic suture and is under DR Johnson at Radcliffe Oxford.

WE've had out first consultation and DS will need surgery. We are just waiting for the CT scan appointment.

I'm nervous about DS having to have surgery and would like to find out more. I spoke to a lady in the waiting room there, and her son had had surgery at the Radcliffe and said it was fabulous but I'm beyond nervous.
Nervous nowhere near covers how I;m feeling at the prospect of DS having surgery.

Hi, my 5mth old daughter has just been diagnosed with right coronal craniosyntosis and have been to see Mr Wall at the JR last week, he has confirmed she will need surgery at between 12 - 15mths, it is so scary and the meeting was really overwhelming, I can't really take it all in and hope that after the surgery the problem will be solved. You wouldn't be able to tell by looking at her that she has such a major problem as her left eye is just slightly more depressed than the right and more closed but this seems to have got better as she's growing although Mr Wall says it will get worse as her head grows and the right side of her skull can't ....I can't believe she needs such major surgery and am petrified already, I have seen some pics on the internet and read some stuff that says that the head and eyes really swells up afterwards? If anyone can share experiences of the op I would be grateful and if anyone's child had problems afterwards or whether the surgery corrected everything. We don't know at the moment whether she has any other condition and haven;t had genetic testing, she seems to be developing normally and can roll over and is trying to sit on her own and has bottom shuffled round the floor since 12 weeks but she hasn't had any formal developmental reviews...any advice gratefully received

Hello

Ds2 has mesotopic craniosyntosis, quite mildly as it happens, but was initially thought to have one of the craniosynotic syndromes you mention (but they didn't know which one) so went through a lot of the associated testing.

I am not surprised you feel lost and overwhelmed, I remember it as a miserable and terrifying time. The only thing that helped me (other than the usual taking one day at a time type thing) was talking to others who were going/had been through the same thing. Headlines www.headlines.org.uk was useful and I'm pretty sure they can provide links to specific support groups eg for Aperts, if you lo's condition is given an actual name.

My other piece of advice is a a bit odd, but anyway - please take time to do nice, normal and even extra special things as a family when you get a let up in hospital appointments/physio etc. When I look back it is a huge regret for me that for those 3 months our lives sort of stopped. We were so busy worrying and doing and planning we didn't enjoy him at all - I don't even have any photos of him b/w 6 weeks (when it all kicked off) and 4.5 months.

Hi Everyone,

My Ds had Sagittal synostosis, he was operated on at 8 months at Birmingham childrens and they were fab.

As far as we know he doesnt have a genetic condition related to this, and it can be a one off event, doesnt need a syndrome, however my DS does have GDD, but seems to be catching up quite well since he started nursery.

The operation is very frightening I must admit, but I do find those websites show the worst photos of before/during/after surgery it can be very daunting.

My DS' face did swell up and his eyes were black but only for a few days he was admitted on Monday had surgery tuesday and was home by Friday.

If anyone needs any more info, will do my best!