Health visitor has freaked me out!

[MissTwister]

So the health visitor came today for a 4 month check and has really scared me.

My daughter seems to be developing normally and has had her 8 week check and an earlier discharge check from the hospital by a paediatrician.

She's sitting up (with assistance), grabbing toys etc and is very alert. She has a slight squint which the doctor told me to come back with if its still there in a month.

But the HV started talking about her squint being due to a flat bridge of her nose and then commenting on the fact that she sticks her tongue out a lot.

She then asked about her smiling and I said offhand that she smiles at me and her dad but isn't massively smiley with strangers. She does sometimes smile at strangers but usually reserves smiles for people she recognises.

She's just rung me 6 hours later to tell me I need to get a doctor to properly review her and she's referred her as she's concerned about her squint / tongue and the fact I said she didn't smile (which I didn't say). At least I think this is the reason - she doesn't actually make a huge amount of sense and was just talking without really saying anything.

I think she's hinting at concerns of Down syndrome with the tongue and nasal bridge comments but she has no other markers and I had the harmony test which said it was less than 1 in 10,000 chance. Plus no doctor had mentioned this and she was even in NICU for a night so surely they would have said something?

Am really freaking out. Help!

quirkychick the doctor said I need a paed referral and he can't send for blood test as its a genetic test. Do you know if this is right as it seems an awful long time to wait?

Agree, most hv's are generally useless at anything other than worrying mothers unnecessarily.

with mosaic downs they often do a swab test (saliva from the inside of the cheek), but all the blood tests for ds have been done via paeds, and with a wait of approx 6-8 weeks.

Ds is still being tested now (he is 5) because the genetic testing has been inconclusive, so he has an undiagnosed genetic condition!

Thanks hazeyjane do you mean the blood test has a 6-8 week wait or the appointment? And who does the swab test?

Can I ask how do you know he has a genetic condition?

Ah, hazeyjane is probably right. Dd2 had the test either when born or day after I had a section so we were in hospital already. I think it took 2-3 days but it's all a bit hazy, I was in post birth fog and trying to deal with a lot of medical tests for dd2. (They were concerned about heart problems but she was fine).

The test came back fast, though. You shouldn't have to wait long. The Down's Syndrome Association are fantastic www.downs-syndrome.org.uk you could talk to one of their medical advisors who would explain the test etc. to you. (Can't remember the name of it offhand, dd2 is nearly 6, a long while ago).

Re weaning etc.if she can sit up and grasp objects, I wouldn't worry. Fingers crossed for you.

I know it's often not possible for people but might be possible to speed up the appointment by paying for it privately?

We had a 4 week wait for our initial paeds appointment, we then had bloods taken a week later for a micro array (the initial basic genetic test) - the results for this took a further 4 weeks, they were 'normal', Ds then had some tests for specific conditions - the wait for these various tests varied from 3 weeks to 3 months. I know friends who had the results back from the microarray (which is the test they will probably do) in 2 weeks - so it obviously varies.

The swab test was done by a genetics nurse - I don't know if this is something they would do as standard though with ds it was after seeing a geneticist.

Ds has a range of complex health issues and disabilities - he also has genetic markers - these are things like dysmorphic features (eg flat nasal bridge, wide apart eyes, ptosis - a drooping eye lid, an ear pit) they are subtle, but in combination with his health problems and disabilities, a geneticist said that these are all pointers to him having a genetic condition. Due to the nature of genetic science - ie it is relatively new, and developing rapidly all the time, there are many genetic conditions which are yet to be diagnosed. undiagnosed.org.uk/ this website is very informative about undiagnosed genetic conditions.

BUT - your dd sounds like she is developing and growing really well, and is a healthy, happy little girl - a paed appointment is a good idea to rule things out, but it is very likely that all is well. If there are issues, her good development and good health will still be there, and she will still be your happy little girl - but if there is any need for a bit of extra support you will have learnt about it early and be able to access that support.

There are lots of lovely people on the special needs boards who have been in the horrible position of waiting for test results - not saying your daughter has special needs (and it is not a prerequisite to go on there - lots of people post with worries and niggling doubts!), but there are people on there who will understand, and be good for a hand hold, if needed.

It might also be possible to call the paediatric outpatients and see whether there are any cancellations, to speed up the appointment.

Thanks for your help and advice it really is appreciated.

cuffsandcollar we've been looking into this today but seems impossible to find who we should be seeing. Phoned a couple of the London hospitals and they have specialists in all sorts of areas but nothing in this one apparently....if anyone has any recommendations let me know

Hi MissTwister thinking of you today, I was advising contacting the Down's Syndrome Association as they can advise new parents on waiting for tests, their helpline number is 0333 1212 300, if you don't feel up to the website. They do advise even if you haven't got a diagnosis.

I hope you can move on your paed appointment. Waiting is just horrible.

I second what hazeyjane said, the special needs boards are very supportive and you would get plenty of support about waiting for tests. It sounds as if your dd is hitting her milestones. Characteristically, children with ds have delayed milestones. I think the concern of your HV is when a baby is born with ds they test for related medical issues such as heart or bowel problems, though it is likely that these would have been picked up by now.

Your dd sounds gorgeous btw.

I agree that online forums may be very supportive. However, be cautious - it is so easy to apply varoous stories to yourself, then start finding symptoms, etc. The most important is that your daughter is meeting milestones - developmental delay would have most likely manifested by now. I actually would advice to stay clear from internet at all, even though difficult to achieve.

DD did and still has, aged 5 epicanthic folds (no family members have this), flat bridge (like DH much better than my high bony bridge) and she found me hugely unamusing when she was a baby. She did not smile at strangers and I could never raise a giggle. I was clearly very dull. None of these features indicated anything. I think your GP is being really thorough to assist you and leave you in no doubt.

DS1 has pseudo strabismus. Google that as it might account for the bridge and suspected squint. He also stuck his tongue out a lot as a small baby. Nothing wrong at all. Hope all good for you X

Just thought I'd update you - we saw a paediatrician privately last Monday who said he was pretty sure she didn't have Down's syndrome but recommended we do the test to be 100%. We just got news today that these chromosomal tests were all normal

Thanks all for advice

Really good news, so pleased for you as must have been worrying