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craniosynostosis/ craniofacial?? anyone out there who can help?

(47 Posts)
isitme1 Tue 19-Nov-13 22:47:02

Ds has an odd shaped head which the gp dismissed.
Ds was ill and we ended up in hospital.
3days on we are still here and I mentioned it to the dr who saw us the first night.
She was that concerned that she came round 4times to remind me to ask drs doing the ward round in the morning.
He had his head scan today and we get the report tomorrow.
The paed said by looking at him it does look like craniosystosis.
I just need to understand and know what to ask them.

We are known to the children's hospital due to dc1 SN.
I did think this baby was the healthy one.
Either way he's my baby.
X

isitme1 Tue 19-Nov-13 22:47:36

Will also post in chat to see if o get a broader audience.

notanyanymore Tue 19-Nov-13 22:50:18

I'm sorry I don't have any practical advice, just didn't want to read and run.
Bumping in the hope someone with some real advice might come along x

FoodieToo Tue 19-Nov-13 23:07:41

My friend's baby had this. He had an operation mid way through his first year and is perfect now.
He was in hospital for about five days I think.

isitme1 Tue 19-Nov-13 23:37:40

Thanks for the replies
Paed has seen it looks ok
Which could mean
1 no sign of it
2 its ok for now doesn't need anything doing yet which they mentioned earlier

Thank you both very much x

isitme1 Wed 20-Nov-13 13:10:55

Update
He needs clinical follow up.
Normal paed cant comment on what hes seen as he isnt a specialist in that field.
Have also started thread on children's health

BarbarianMum Wed 20-Nov-13 14:31:46

OK, don't panic.

Had almost exactly the same w ds2 - dismissed by GP, picked up whilst at Children's Hospital about something unrelated (and oh what a glorious weekend that turned out to be). Then scans and an appointment with the neurosurgeon - not what you want when your baby is tiny.

Ds2 has metopic craniosynostosis in a mild form (this is common). He was initially thought to be severely affected but a CT scans thankfully showed that not to be the case. (CT scan is definitive for this sort of thing, Xrays can be misleading - as in our case). He did not need surgery but has a rather bumpy skull hidden under his hair.

If craniosynostosis is suspected they will follow it up but a) there is no great rush, unless your lo has other symptoms and b) it is quite common in mild form which do not need surgery. Equally, if surgery is required then this is much less scary than it sounds.

Got to go on school run now but will check back later - if you have any questions I'll answer if I can.

isitme1 Wed 20-Nov-13 14:54:36

How old was he when he was diagnosed?
How long did you have to wait in between appointments?
Thank you

BarbarianMum Wed 20-Nov-13 15:48:14

It was picked up when he was six weeks old. He was X-rayed that day (we were already in hospital about something else and they thought he might have one of the syndromes that can be associated with the condition so was fast tracked) and that is when he was misdiagnosed as a serious case.

Saw the neurosurgeon about 4 weeks later. He ordered a CT scan which I think happened 2 weeks after that, then back to the neurosurgeon (another 2 weeks) who gave us the all clear.

I was very stressed about the waiting initially but when we saw the neurosurgeon he stressed that if the child was otherwise well it there was no rush as surgery usually happens somewhere b/w 6 and 18 months.

The doctors who initially diagnosed ds2 were quite junior and in general pediatrics. They were unfamiliar with the condition and not very reassuring but the neurosurgeon was much calmer about the whole thing - treated it as a routine problem that can be fixed as necessary.

isitme1 Wed 20-Nov-13 16:18:04

Its just his head I think.
His feet seem a little hmm what's thw word just before the toes its quite big??

Its not causing any pain right now.
Have seen that he has a follow up in a few weeks.
So hopefully they will investigate further.
The bit where it dips at rhe back and comes out round the side is the worst almost like ots compensating for space from the other side iyswim

Atm hes fast asleep and have been given all clear for him to go home but are waiting on meds. Its been 3 hours!!

isitme1 Sat 23-Nov-13 13:33:07

Just signed up to the headlines website.
It just seems so apparent now that there is something wrong.
His eyes seem pretty deep too.
I need to stop looking at faults on my beautiful Baby sad

isitme1 Sat 23-Nov-13 13:33:52

Babarian can I ask does your dc have any other health issues
X

galwaygirl Sat 23-Nov-13 14:14:57

Hi OP, hope your DS is doing ok?
I searched for something on this a few months ago as my 5 month old has a very bumpy head and the Paedeatrician who saw him at 2 months said it could be this but we would have to wait and see at 6 months. He still has really pronounced ridges (and no hair covering them!) so it still worries me but his head is growing on curve.
Where are you finding good info?

isitme1 Sat 23-Nov-13 15:00:51

Ds' head just seems to be getting worse but that could just be me as im ' looking for faults' iyswim
Sign up to headlines (google it)
They have good info. Has he been scanned or xrayed?
Boys get ir more than girls too.
Our dc are only about a month apart.
While ds was inpatient at hospital they did xray.
They also want to see him again regarding it

isitme1 Sat 23-Nov-13 19:53:26

It seems like his eyes are a lil shallow
Everything is in the middle
Eyes are drooping slightly on the side

BarbarianMum Sun 24-Nov-13 15:20:51

Hi, back again.

isitme1 - no he has no other health issues (other than a deformed kidney but I don't think this is connected and it works fine).

Craniosynostosis can be connected with other health issues (part of a syndrome) or just one of those things that just happens. I think it can be quite difficult to disentangle.

The charity Headlines is good for advice and support for all types of craniosynostosis - they have a website.

isitme1 Sun 24-Nov-13 15:25:57

The more and more I look into it the more I can say yeah that's him
Sometimes I look at him and his eyes seem odd
Other times his cheeks look droopy
His head is so bumpy on the sides too

Funny you say that I have smaller weird shape kidney

BarbarianMum Sun 24-Nov-13 15:26:03

I remember the looking for faults thing VERY WELL sad. And the head shape does get worse, if that's what he's got, but surgery (if necessary) sorts that out, as does hair. Ds2 does have a very lumpy head but you can't tell. His forehead noticeably bulged too, at 6 months, but again it doesn't really show now.

isitme1 Sun 24-Nov-13 16:32:40

Yup his forehead is quite bulged too.
If its just shape then its not too bad but I don't want it to cause pain or affect him.
Its like the bones are sticking out.
Above his ear plus left side and middle of head

isitme1 Mon 25-Nov-13 20:41:26

His feet (just were before toes) are very 'swollen and puffy'
His feet from the big toe onwars slowly dips so tge little toe is almost under the foot?. And it's more prominent in one foot.

BarbarianMum Tue 26-Nov-13 09:29:49

Has anyone looked at his hands and feet - examined them I mean? I remember them examining ds2 top to toe, with special attention to his hands and feet but I don't know exactly what they were looking for.

Have you had the scan results yet?

There are 4 centres of excellence for craniosynotosis in the UK - in London, Oxford, Birmingham and Liverpool (Headlines have the details and contact numbers). If you do get a diagnosis of the condition you can ask (or insist) to be referred to one of them - it costs your local NHS nothing as they are nationally funded so your doctor shouldn't refuse (if that's what you want, of course). We were considering it, had ds2 been diagnosed with a more severe form of the condition than he was.

JackAubrey Tue 26-Nov-13 09:37:47

My daughter was diagnosed with mild metopic craniosynostosis at about 3 months - cue much panic and weeping. The specialist at GOS said we didn't need surgery - she's now a very healthy, very happy 3 year old and you can't tell unless you know what you're looking for.

Friends had a similar exp, but their ds needed surgery, and although it was difficult to go through, he is now a very beautiful, very lively four year old.

The team at Great Ormond Street are brilliant. Please don't panic, and try not to google yourself into The Fear.

I hope everything is OK. I second Barbarian - Headlines are great.

isitme1 Tue 26-Nov-13 14:45:24

I applied for membership on sunday and got the welcome pack today.
His hands seem fine?
The gps here are more bothered about staying within budget rather than referring a child who needs the attention of a specialist.
Ive got him on my lap and just ean my fingers over the bulge on his forehead and one side is bumped (sticks out) more than the other so just to confuse you more
At the back its flat with a bump but the bump goes in fairly deep. The left side sticks out more around the side and over ear the right isnt as bad but thw right side at the front sticks out
Just been looking at his baby pics too and it has been getting worse over time.
When he was 6weeks there wasnt much above his ears on the left side now there is.

It scares me to think of what could have happened if he wasnt in hospital for something else and ot wouldn't have been picked up.

There are 2 that fit ds (as far as I understand)
Coronal synostosis or lamboid suture synostosis as thats the one that mentions bone above ear.

My eldest has SN and if I wouldn't have googled so much je wouldn't be with us as gp kept dismissing us despite going around 6x a month for illnesses and failure to thrive.

Thank you jack and barbarian thanks

isitme1 Thu 28-Nov-13 16:24:18

Headlines rang me today with some really useful information.
It doesn't cost the gp (or pct) to refer ds to the specialist cranio facial centres as some commission pay for it.
Ive asked a friend to print me the leaflet off so I can go to gp tomorrow and put my foot down.
X

Hi isit I've just seen this and wanted to say that me DS also has craniosynostosis and under the care of John Radcliffe in Oxford. There are only 4 specialist centres in the country that deal with the condition so you need to get your GP to refer you to the nearest one. Craniosynostosis can lead to increased pressure on the brain which is why it is operated on. i may have missed it but how old is your DS? Headlines also have a facebook group which is great for connecting with other parents.
I blog about my DS you can find it if you search craniosynostosis in the bloggers network. Back later i'm suppost to be working!

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