Here some suggested organisations that offer expert advice on SN.
ZOMBIE THREAD ALERT: This thread hasn't been posted on for a while.
Delayed walking and talking at 21 months, anyone in same boat and what was the diagnosis?(47 Posts)
Hi there, my ds has always been delayed in gross motor skills. He crawled at 12 months, and at 21 months can walk couple of steps with a walker. He says just 'dada' and 'hiya'
He has been diagnosed with hypermobilty and low muscle tone.
The doctors are doing further blood tests (at some stage) he has been tested for chronosomal abnormalities which came back fine.
Just wondering if you have experienced the same for delays in both, when your dc walked/talked and if there was a diagnosis at all?
ds is 2.9, with gdd, low muscle tone and a variety of other issues.He has had a variety of tests, MRI, bloodtests and genetics tests. It is felt by the geneticist that despite all the genetics tests coming back negative, that he in all likelihood has a genetic condition causing his delays. He is in a long term study looking at the diagnosis of one particular conditon that they feel he is likely to have.
It is very hard when you have no 'hook' to hang the issues on, and I do feel compelled to keep looking, although for the moment, the condition ds is in the study for is being treated by the professionals as his 'possible and likely diagnosis'.
Overall though, as time has gone on, it has been more about getting the right support for each need.
As Couthy says, SWAN UK may be of help, they have a very active and friendly facebook page. There used to be a thread on here, which I started originally for those of us looking for a diagnosis, which FirstTimer revived recently.
PollyPandemonium - I am curious as to why you ask about medication in pg, it's not a question I have ever been asked by any of the professionals we have seen?
I think you should push for a diagnosis, if only to eliminate the thyroxine / birth difficulties issues.
Try to get referred to a geneticist at Great Ormond Street - they work together to get a holistic picture of the child, unlike other hospitals where one department won't talk to the other.
Hazeyjane, my daughter was affected because I took a medication in pregnancy and there were thousands of others. Paediatricians should definitely be asking these questions about medications and what happened in pregnancy and at birth.
I see what you mean, polly, and yes, we have always been asked about the pregnancy and birth, but I have never been specifically asked about any medication, and I wondered if there was something specific, associated with delays.
Yummy, have you been referred to a geneticist? There are more detailed genetics tests than the basic tests, and a geneticist is very good at seeing things that may be genetic markers. There is also a research study, called the DDD study related to genetic conditions and developmental delay. It is a long term study, and one that a geneticist has to put you forward for, but which means that any new tests and diagnoses are tested for.
I don't know what the system is where you live, but when ds was 10 months old, he had a Team Around Child meeting, which set out what support he would need, and we were appointed an early years support worker to help co-ordinate things. It has still been a push and a fight for a lot of things, but at least at the meeting, we were made aware of the various professionals involved and who we should be kicking up the arse to get things moving!
Yy re support bands etc. dd2 used a gurt big tubigrip around her core for a few months, and was then fitted for a full Lycra suit - there are all sorts of things that can be tried.
The further along the sn path you get, you realise that science is all one big guessing game, however definitive the docs attempt to pretend they are...
Missed this thread over the weekend.
21 months was when DS2 started walking - also hypermobile with low muscle tone. He's only just developing useful, though not consistent speech, now, at almost 7. He has ASD.
So not terribly reassuring, I'm afraid. We think the dyspraxia that comes with his hypermobility is a strong factor in his speech delay, though - he has issues with the textures of a lot of food and he drools a lot. When he starts using a word, he often says it clearly a few times, then starts to get sloppy with it, losing terminal consonants, etc.
Couthy I think that's just the standard line they use to be honest, like when I ring my GP for test results and they say 'satisfactory'. I would rather they said 'normal'!
I would absolutely ask for a 2nd opinion though, it must be horrible having that doubt.
My understanding though is that they use phrases like that because they can never say 'normal' as new variations are being discovered all the time, so all they are saying is that they didn't find anything of concern at this exact point in time, but that's not to say there isn't a problem x
Hazeyjane there are a lot of medicines that are teratogenic. If there are any doubts on the patient information leaflet you need to be very cautious. The recording system is woefully inadequate and there is a lot that simply isn't knownv and in my experience the latest research has found that the PIL was completely inaccurate.
That might be true, polly, but how does that help the OP?
Because she's asking for help about diagnosis and what she took in pregnancy might give her a diagnosis. Have I done something wrong here?
Nah. But it's just a bit niche, and is usually covered by the profs very early on, along with 'are you related to the baby's father?'
It's no secret that some medications have horrifying effects on foetal development (you just have to look at thalidomide) but it is really just a check box answer in most developmental delay cases to rule out a cause. Likewise environmental factors, whether you took recreational drugs, and alcohol consumption. I think the focus on prescription medication is somewhat misplaced on this thread, but agree that it is one of the things that should be 'yes/no' answered early on. So, no, nothing wrong in double checking, and it is only natural that you have this focus yourself, with your personal history, but in general it's probably not essential to prioritise it as a possible cause. It's just one of the things to check.
Polly, hopefully dd is doing well, now. It sounds as though you have had a good experience through GOSH. I don't particularly share your view that it's the only place where a child is treated holistically, and have lots of experience of inter-departmental collaboration (and we move every year or two, so have had experience of lots of different pcts). Again, we all have different personal experiences to offer.
We have had fairly good experiences of consultants referring on to each other too, alwayslate.
I would also say that whilst a diagnosis is important, it is sometimes not as simple as 'pushing' for it. Many of these tests are not conclusive, and there never seems to be a black and white answer (well ime anyway!) And in the case of genetics testing, everything is developing all the time, and new conditions are being diagnosed all the time, so sometimes even if the geneticist is sure there is a genetic reason behind the delays, there may be no diagnosis for years and years.
According to SWANUK 'It is thought that about half (50%) of children with learning disabilites and in approximately 60% of children with multiple congenital problems do not have a definitive diagnosis to explain the cause of their difficulties.'
NO mention of geneticist as yet. But havig all of the information, even if the doctors do not think it is necessary/beneficial I/(or others reading this thread) can at least ask the question.
I have always felt unfortunately through experience that you do need to push and arm yourself with info to get any kind of results. However, I do take the point that even if you push there may not be the answers, also in this particular situation it took 5 visits to the doctors and a heated telephone call regarding his delay to get a referral. I knew there was something not quite right with him not bearing weight and currently, I am not convinced that he understands what would perhaps be expected at around this age. He is also not interested in tv/books/toys especially.
Sorry for ramble had a much needed glass (or 5) of wine!
Wine good. I may have a glass myself ;-)
Polly - you weren't on sodium valproate were you?
(I have epilepsy but have never been pg while taking that, as I only took it for two doses as I was massively allergic to it!)
Trying to get seen by a geneticist but proving difficult to get Paed to refer on. I am seeing Paed again on 24th and will insist.
I want to try to get my three with the same issues on the DDD study.
Run - trunk support from Poundland? What should I be looking for - DS2 could really do with this.
No Couthy it wasn't that med. I will pm you. What's the DDD study?
here - Deciphering Developental Delay.
Couthy, your GP should be able to refer you to geneticist (where we are, ds's paed had to ask gp to do the referral)
couthy, as hazey said, maybe try the GP? we were referred via paed but it was a struggle to convince her. no idea why paeds are that stroppy
however, once we saw the genetics team it was plain sailing. the offered testing straight away.
GP won't refer (whole other story...). The Paed has to. But I WILL be insisting at next appt.
Couthy- the trunk support is in the medicine section,they have wrist supports,ankle supports & nxt to that the trunk supports. It's literally a stretchy band of material that you wrap tightly around the trunk. We had a more sturdy NHS one but when the physio saw this one she asked me to get her some.
We were referred into the ddd study by a genetics cnslt.
DS similar, diagnosed with Developmental Verbal Dyspraxia, hypermobility (mild) and low muscle tone. No other associated issues.
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