Craniosynostosis diagnosis age 4 years

[Jenniwren79]

My ds has been diagnosed with craniosynostosis at the age of nearly 4 years old. An urgent referral has been made to neuro surgery and we have an appointment in 2 weeks. I am worried this has been picked up late (me and dh asked about it at 3 months because he didn't have a soft spot on his head) and see its normally picked up when they are babies. I just wanted to understand other people's experiences of this, especially with such a late diagnosis.

Hi OP,

Sorry to read this - it sounds as though it has come as a big shock. I have no experience of this personally but wondered if you have seen the NHS page:

www.nhs.uk/conditions/craniosynostosis/

It sounds as though not all cases require treatment and that cases more likely to be missed early, are the milder cases. The page above mentions the charity Headlines as being useful.

I wish you all the best.

Hi
So sorry to heard this . My DS was suspected of this when he was little , had CT scan etc and we were referred to Oxford hospitals cranofacial unit (by my request ) just to check everything out .
If you go in the hospital website and search the department there is a email address for them , might be worth emailing them for advice . They replied to me all those years ago so they should do to you. Hope this helps
Sending lots of love

Thanks for your replies, I hadn't thought of emailing the craniofacial centre directly. I'll do this once we've had our appointment with neuro surgery which is in a couple of weeks.

Which suture do they suspect has fused? What does his head look like? (Can you describe the shape?) The size of the soft spot is entirely irrelevant if the head shape is normal.

Thanks for your message speedyshoes and sorry for the delay in replying. His head shape does look different, it seems wider if that makes sense. He also has a ridge which I can clearly feel, it runs from one side to the other. His hair does cover it so it isn't noticeable. It's also really helpful to know that the soft spot isn't necessarily relevant, thanks. I did an Internet search and that was quite unhelpful and made me anxious

Do you have a Facebook account? One of the world's leading craniofacial surgeons, specialising in craniosynostosis, runs a Facebook group and he would tell you if there is cause for concern if you joined and posted pictures. It's called the Noggin Doctor's Plagiocephaly and Torticollis Discussion Board which I know sounds like it's not relevant but it is - any questions about head shape, he will answer. His name is Dr Gary Rogers. He literally wrote the textbooks on craniosynostosis.

I am on Facebook- thanks, I'll look this up. I am in a group but haven't come across thus one.

Hi, another good UK Facebook group is craino ribbons. There are alot of parents on there who have a wealth of experience. I found it particularly useful after my child's diagnosis.

yep I second the cranio ribbons uk Facebook group.. loads of advice and support.

Headlines charity is also great and they could put you in touch with people who have had similar experiences.

I believe there is also a specific fb group for those who have had a later diagnosis.

My son had surgery at Oxford last year for saggital cranio and they were fab...I really couldn't fault them from initial contact though to post discharge support.

I know it's incredibly hard but my advice is if you have your referal to one of the specialist centres then trust in the process.

Best of luck.

Has he had a CT scan? That would be the only way to make an actual diagnosis at his age.

I appreciate that this sounds like double standards, but until you have a diagnosis I would stay away from lay groups on Facebook. They can be great for peer support AFTER a diagnosis, but prior to that there is the risk that all that happens is your worry level increases. The reason I recommended Dr Rogers' group is because he is literally a world expert in craniosynostosis. All forms of craniosynostosis create specific shapes, and positional head flattening looks very different, so oftentimes craniosynostosis can ruled out (by an expert) simply by assessing the phenotype (shape).

Thanks, yes I've been on cranio ribbons and I'll look at the other fb group recommended, I've not come across this one before.

DS has had a CT scan and we have verbally had the confirmed diagnosis. We have an appointment with neurology in a couple if days. Hopefully this is a mild case which won't need surgery, I just like being prepared so I understand a bit more and maybe have a few more questions to ask if he does need surgery. Thanks for all the responses, they've been really helpful

Hi @Jenniwren79 sorry to jump on this thread after all this time! But we are awaiting a CT scan for our almost 2yr old and wondered how you’ve gotten on? Everything I see online usually involves diagnosis at a very young age so I’m a little worried what this could mean for a toddler getting a diagnosis at this stage.
hope your little one is ok xx

Hi @HavingFaith it is so hard waiting for tests and then results and diagnosis and treatment. I must admit last year was tough as ds had to have surgery rather urgently in the end. However, all staff at the hospital were absolutely amazing and the care ds received was phenomenal.
I was also worried about his age as he had just turned 4 when he had his op but he did really well and coped with it really well.
Once the scan has taken place and you have the results you should have the opportunity to speak to them and ask questions. From our experience they were more than happy to answer any questions we had.
Hope you're not waiting too long for the scan and your little one is doing ok