Developmental Delay - a bit of advice needed!

[1980Sport]

My DS is 2 and has significant developmental delay. At his last appointment his pediatrician felt it was unlikely that we would ever get to the bottom of it after a year of tests however we seen a clinical geneticist recently who believes that he will be able to diagnose a genetic condition within the next 12 months. We've been on a rollercoaster of emotions - wanting to know the cause, coming to terms with not knowing and now waiting to find out. While also asking ourselves does it really matter?? - he'll continue with his therapy and bring us love laughter and smiles every day. What I find most difficult is my parents and in-laws inability to acknowledge anything is wrong and the fact that they refuse to tell their friends and the extended family of the situation which means I get asked the constant usual questions like - is he still not walking, is still not crawling etc etc. When I ask them why they haven't told these friends and family - I am told 'he hasn't been diagnosed with anything and until he is there's no need for anyone to know' but I would find it much easier if these people did know and I wouldn't have to smile and say 'well you know, he'll get there blah blah'
Sorry to ramble on but has anyone else faced this and how did they deal with it - we're not very good communicators in my family!!

OK sport. The test for really obvious stuff may have been karyotyping where they look at the size, shape and number of the chromosomes.

Our paediatrician said that karyotyping is like looking at the chapters in a book to see if they are the right length and in the correct places.

The next level of detail is the microarray, which is like looking at the individual words (chromosomes) to see if they're spelt correctly and in the right order.

Finally there is individual gene testing which is like looking at a letter from one of the words.

Hope that that makes it a little less confusing!

Hello, until September DD (now 4) had an undiagnosed condition, having had all the usual metabolic and genetic tests including microarray testing. To our geneticist it was clear that she was likely to have some kind of genetic problem because of the way she looks: wide-set eyes, long fingers and toes, unusual dimples, 'carp' mouth. But because there was no actual name, I did get well-meaning comments along the lines of 'well, she might catch up one day, you never know...' which used to really annoy me as I could see that she was developing at her own pace,
which was absolutely right for her, but was definitely delayed.

She has now been diagnosed with a rare syndrome called Kleefstra Syndrome which affects a tiny part of chromosone 9 and probably accounts for most(but not all) of her presenting issues.

Whilst it hasn't changed DD at all, it is indeed very nice to be able to have a name instead of 'GDD'. We are part of a community of Kleefstra families now, so we feel less alone, and it's silenced the 'well, she might catch up' well-meaners, which can only be a good thing...

Was going to suggest portage--it was the best thing that ever happened to me and DD, as it focuses on helping the child learn at their pace and is very family-centred, but I see that it's probably not available where you live. There might be some kind of pre-school provision for children with disabilities though. See what your other therapists have to say about it as they must have other families facing similar issues.

PJs - thanks for this, that's a very good description it makes it very easy to understand. I'm 90% sure we're on the individual gene testing because he talked about the number of genes and how it's not possible to check them all which is why they have to have an idea of what they might be looking for initially. At his next appointment I will double check to make sure I'm right.

hi my ds 2 has gdd hes has blood test ,gene tests ,mri brain scan not got dx ,he does not talk ,he did not walk till 2,6m he goes full time to a sn school and has just stated to sign a few words ,we go bk to see the gene doc in dec/jan so for me its just a case of waiting and see :(

Arabica - thank you for your post it's good to hear from people further along than we are - it can feel very lonely. I had a look on the kleefstra website and we can very much identify with the symptoms. I'm trying not to torture myself in an attempt to diagnose him myself but I think its good to do research so we have some idea of what the docs are talking about.

Sprouts - good luck for your appointment I think we've a long process ahead! At what age did your ds start sn school - does he go full time every day?

hi we have been going for 2 years now ,he got early entry last year hes full time now not 3 till dec !! not a clue whats going to happen next tho some times i get so sad and tierd of ppl saying why dont he talk yet etc im very proud of him hes coming along slowly but surely will have a look at the kleeftra site too ,but i have also been told he may never get dx

also he never crawled he bunny hopped all the time and starterd to walk at 2.6 ,he had pierdo boots now has one of his feet turn in when he walks ,also has a sn buggy !!

We were told by the paediatrician in august that we would be unlikely to get a diagnosis at this stage but we seen the geneticist just last month and he said he was 70% certain we would get a dx within a year! I don't think my ds will ever crawl he just doesn't have the strength in his arms and hates being on his tummy he rolls over and sits up every time I put him on his tummy. He has just started to weight bear on his legs after always tucking his feet up under him if we'd tried to put him on his feet and he's now standing for a few moments by himself so we're hopeful he'll walk next year. I get tired fending off the questions and knowing that people are looking and thinking should he not be walking/talking by now! And I feel the same I'm so proud of every achievement no matter how small and he's such a happy chappy I spend my whole day laughing with him he's so giggly and cheerful but I do feel frustrated for him because I feel that he is missing out on so much. We have lots of friends with little ones the same age and we see them all the time it's hard to see him not having the same fun they are having!

I am just going through this with my DS (23 months). He is unable to walk, has just started to pull up a bit, but we've been told that he's unlikely to walk for another few months. He also has delays in other areas and has been referred for SALT and portage.

Not a day goes by when I don't get asked by somebody, "isn't he walking yet?", usually followed by the "boys are lazy" comment, which I find very irritating.

I agree that one of the hardest things is seeing kids the same age achieving so much more, and I find it particularly heart-wrenching when friends' babies a year younger than him are able to do things that he can't. However, he did sit up by himself for the first time today, which was lovely

yesi know how you feel ladys x

I don't know if this will help... but I've found when ds got really noticably outside of the range of what was expected people got better about the, 'isn't he doing X or Y yet?'
For us it's more about LD, as ds looks and moves like your average child, (I do know there is no such thing, but you know what I mean). But because we are signing back and forth people get the idea that he is different, and so don't tend to ask that question so much anymore.

I still get people who 'rub our noses in' how well their kids are doing, but I have sidelined those friends for the time being, and fortunately have some (both with SN and with NT kids) with whom we can enjoy all our kids achievments, whether or not they are what is expected for the age or not...

Hi sign - is LD learning development? Our friends have been amazing and they are all great with my ds helping me with the physio etc. I try to look at their children's development completely separately from my ds and celebrate and enjoy both in different ways if that makes sense but it I have my down moments! It those people you know but don't see very often that I have most difficulty with mostly friends of parents and Pils - sometimes I think the competition and comparison by grandparents is even worse than among parents. I get a lot of (normally from my parents) you should see what x is doing/saying etc? And zen yes when they're younger it's even worse. I feel like saying I'm well aware of what a 'normal' 2 year old should be doing! Stop comparing!!!

I get this sort of thing all the time as well. My MIL is especially good at asking me "Why isn't he doing XYZ yet?" or reminding me "The elder 2 (he is dc3) were doing XYZ by this age." She refuses to accept he has a problem and insists he's just lazy . She does things like try to force ds to hold things by putting things in his hand and closing his fingers on them and getting cross with him when he then immediately drops the thing as he is unable to hold yet. It's really annoying, somehow worse because she is family, as I can easily deflect comments from other people.

I think LD stands for learning difficulties?

Get cross with him?!?!? I'm sure that's infuriating! If it helps, we thought our ds would never grasp a toy now he's happily passing from hand to hand and reaching out! Our physio and ot said we need to continually give him the opportunity to do the things that he can't/won't do and eventually we'll have a break through - they were right. It's slow and patience is key.

Sign - I meant to say we're the same outwardly there is no appearance of a syndrome but as time goes on the problems are becoming more apparent but we're getting more questions now because at 1 it's not that unusual that he wasn't walking and doing the other stuff but now at 2 it's such a big thing!!

Hi all, im going through similar to alot of you (which in a way is refreshing as ive been feeling so alone lately) DS3 is 17months and has GDD along with other problems -he was about 6-8months at last app although has had a bit of progress since. Waiting on MRI results and have geneticist app next month so its been really handy to read some of the tests youve had. Ds has had a lot of tests already but have all been negative and paed is at a dead end.
I have a few friends whos Dc are similar ages and I love to hear how they are doing/progressing although it does make me sad at times.
I also get alot of 'he will do it in his own time, hes just a bit behind, they all develope at different speeds' It drives me crazy and I think its more a generation thing as it mostly comes from my grandparents etc. They just dont want to accept/understand there is a underlying problem which I think is more obvious now he is older- no babbling, crawling, still not sitting unaided& only just perfected rolling in last few days [proud mummy emocotion]
I find it hard when family/friends dont realise why we cant necessarily do things/as much as we would like because of DS, eg sensory issues make it hard to go out to busy places and his feeding problems etc.

A friend who has a SN ds warned me in the early days that I will need thicker skin as you get so many comments -not all intentionally meant to hurt although they do. I try and shrug off as much as I can but its not always easy.

Hi imawigglyworm - I haven't got to the thick skin stage yet. I still cry at the drop of a hat!! And end up getting annoyed with myself. At each apt I say I will not cry 5 mins in and I'm in tears! Our paed said she was at a dead end but would send up to genetics as a last resort so it was a bit of a shock when the geneticist quite matter of factly said oh yes there is a genetic condition and I feel now we've been left to just get on with it until the results come back in. Like you, it feels pretty lonely and scary :(

Hi sport, Yeah LD is learning disability, ds has a moderate LD and ASD too, don't worry about crying, I remember being in a shop once and having a older lady stood behind me say horrible things about ds and I challenged her but then hasd to stand there in the queue saying to self 'Don't cry, don't cry' till I had left the shop.

Thicker skin will come, but there will always be tender points, and that's ok, you are only human...

Best advice I think is 'be kind to yourself', it is so easy to get lost in what your dc needs and loose yourself.... wherever possible try and carve out space and time for what YOU need...

I know this is easier said than done, (a case of do as I say not as I do, )
but if you go down everything goes down so have to try and protect yourself...

Finding someone to off load onto has really helped... I got 6 sessions at counsellor funded by local carer's centre, also free carer's trips (without ds) bliss!!!

Hi sign thanks for your advice above and the signing advice too!
Re the above, I can get counselling through a healthcare scheme with work which I think I might make use of. There's only so much friends can listen to really and they have their own dcs with their own worries too! I hope the ability not to cry will come soon I could shake myself I hate people thinking I can't cope or am weak!
Re the signing we have SLT week after next so I'll speak to therapist first and then put a post on for some more input about signing!
Thanks again you've been a great help!

DS2 has development delay, hypotonia and hypermobility. I tend to say that is his dx even though it's not a proper dx really. Most peple without experience of SN don't know that though. DS1's paed said he is definately on the spectrum somewhere so I just say he has ASD. I always find older people most irritating with this, especially DH's grandad's friend. Mind you I found her irritating before DS2 was born!

DS2 had the microarray test done but they took ages to get the blood and by the end, ds2 was screaming, I was crying and ds1 was trying to hit the nurse. We kept asking for the results and they kept saying it will be done in 6 weeks. After a year we got a letter saying they'd mucked it up and could they have more blood. I told them over my dead body!

Hi Ellie - Nightmare! Do you think you'll have the tests done again in the future?
We have apts at our local hospital and at the child development centre which is at a different location. Twice we've arrived for apts and our ds's notes have been in the wrong place!! It's so infuriating because you build yourself up for these things! Anyway thanks for your response I've started using the hypotonia excuse for not walking and it seems to be working - people dont know what it means and don't want to look stupid by asking so they seem to shut up after that :) I try to say it matter of factly like they should know it's meaning if that makes sense

absolutely! it's almost fun to do, (in a kinda warped and twisted way )

have found 'nasty' rather than 'ignorant' comments deflected with (mock) impressed face and the comment, "Wow you must have lots of experience with children with disabilities(or X or Y condition, bepending on which sounds most complex and conufsing) in order to say that, in view of the complexity of his/her needs what would you recommend?"

Usually provokes embarassed silence or stuttering,

cue inwardly smug mummy

oops depending not bepending
confusing not conufsing, although I kinda like the idea of being conufsed!

Hi sign - I'm quite enjoying the look of 'oh yes I know exactly what you mean' when they clearly don't!

Just thought I'd share this typical comment from my FIL...
I am blessed with the best PIL's in the world I love them to bits, their only crime is to exaggerate my ds's achievements a few include he crawled today (he didn't) he's doing new things everyday (he isn't) he'll walk by Xmas (maybe next Xmas). Anyway today they were asking about the neurology apt and I was trying to explain that the paed had said even tho the MRI was clear the brain might not be functioning at 100% - my FIL said well hopefully they'll find out what's wrong and get it fixed!

Hey sport Oh yes, my best one from MIL, (who I love dearly, and who hs now 'got it' really well) said at one point, "well, he will be fine in time, perhaps he won't up on stage making speeches, but he will be talkin ok"

she got really upset when in response to her, I'm sure you will be so relieved when this is all sorted out, light at the end of the tunnel, etc etc I replied there is no light, (light in terms of ds being 'fixed')

doesn't mean of course that ds isn't a) gorgeous, b) making lovely progress, c) going to be just fine. but it does mean there is no 'fixing' no making normal...

she took time to get head round it, but now does really well.

Really hope your PILs get it,

(we are all up early as off to TAC meeting today). Team Around Child, (all involved professionals attend or send reports) I know some find them a pain in the a*^@ but we have found them really useful.

Hi sign, How did the TAC go? Are you happy with your ds's progress - I'm beginning to realise how important it is to 'get on' with the professionals/therapists there's no point battling with them, so it's good you find the meetings useful!
I'm sure my PIL's will get there eventually - they adore my ds and snap on the a) b) c) - it's just a bit of adjusting required!!