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!!

Hi, it must be v difficult not knowing the cause and having a label to put on it and it is doubly hard when no-one has been told so you are having to smile and put a brave face on it the whole time. Could you come up with a stock reply to inquisitive friends/family - something like "He may have a genetic condition, the doctors have not been able to diagnose anything specific yet but his development is therefore a bit different to other children?" You can probably think of something more appropriate, but I'm sure you would only have to tell one or two people for it to get round and then people would stop asking questions - or at least, not those sort of questions. I think you have to be fairly blunt although I know it isn't easy.

Our DS's are a similar age - mine will be 2 in December - he has CP and we have known for a long time so friends/family all know but I still get those type of questions from acquaintances who I don't really know and still find it difficult to say to people "no he's not doing xyz as he has CP", so I know how hard it is!

Yes I get this, and am constantly told by a certain relative that I am just not "training" DD properly..she is 4 but seems more like an under-2. We are hoping for a diagnosis too, but it has been 18 months so far.

It's hard, you have my sympathies.

Just say "he probably has a genetic condition"?

I'm sorry know how. Hard it is we are finally getting somewhere and bring able to say ds has cp has eds is lot easier and the fact can now say oh think ds has suspected chromsome problem is better than having sayGDD as people just used shrug think oh he will catch up

Thank you for your help, it's very reassuring to hear your stories. Sometimes we feel very alone especially as we see other children in our circle progressing normally. I'm very open with my friends I just find it so strange when I meet close friends and extended family of our parents and they obviously haven't been told. Is it a generation thing - oh you just don't talk about 'things like that'!!??
Anyway thank you again xx

Hi there. I can totally sympathise with you. My DD2 is 3 now and does not walk yet. We also have no diagnosis yet and are waiting for genetic test (micro array) results.

My family discuss it quite openly however it is still frustrating to have to keep over it with them. I am convinced that some people think it is down to us!

Watching other children progress is heartbreaking but you need to keep your chin up and remember to enjoy him.

Can i ask what therapy you do with him?

S xxx

Hi, I just wanted to add that I can also sympathise with you. Our DS has reached (or is still to reach developmental milestones) late and we are yet to find a reason. In fact, we are struggling to get someone to take control of our son's case but that's a whole new post! Anyway, DH and I really struggle with relatives (esp. parents, PIL) not acknowledging the situation and glossing over our worries with 'he'll get there...' or 'he's doing really well...' like we're overreacting. We know we're not, especially as the babies born at the same time as him as doing so much more. I almost get the impression that they think we are criticising our DS when we mention our worries about his development, when in fact this couldn't be further from the truth, we both adore him.

It is now being taken a bit more seriously by HV/Paediatrician etc but just not family. Friends have been very good however.

Anyway, sorry for the long post, but I wanted you to know, as others have said, that you're not alone!

Good luck with your diagnosis. Take care

There is nothing more irritating than the phrases "He'll get there in his own time" or "All babies do things at their own pace" especially when spouted by people who are aware of the situation and therefore should know better...

Hi - he has physio OT and speech therapy every couple of weeks and we do the exercises they show us each day. The speech therapy is lots of repetition, pictures, sounds, songs etc! We try to get friends and family all to use the same signs/sounds/phrases! OT includes getting him to really engage with his toys, cause and effect and for physio we have a jenx standing frame which we put him in twice a day we also just keeping trying to get him into positions which will help strengthen his pelvis and knees.
How long have you been waiting for your results?

Thank you EvianBaby for your post. Our situations sound very similar although we've been very lucky because we have an excellent gp who has been on the ball. I get a lot of 'he's coming on leaps and bounds' and 'boys are always lazy' I also get a lot of raised eyebrows from parents and in laws when I do his physio because he doesn't always want to do it. It's as if I'm being cruel.
And badkitty you are totally right if I had a pound for everytime these have been said to me!!

Anyway good luck to you both xx

1980Sport Just wanted to say i can identify with a lot of what you say as well. DS3 is 15 months, he has general developmental delay,plus, the paed thinks ASD and a chromosomal disorder. We are about to start the many tests, appts etc. he has had phsio, and is starting OT & SALT. I too striggle with the worry of finding out / never finding out.

I have found some family and friends reactions astounding. A lot of people say "there's nothing wrong with him, he's just a boy" or the classic "he'll get there in his own time". My mum keeps saying "i'm just so pleased he's getting all the support he needs, you're so lucky" And yes we do get great support, and the child development centre in our town is fantastic, but i'd rather rather he just didn't have all these problems. ATM i don't feel lucky, i just feel sad.

When we told my brother, he said "well i don't think he has autism" (I'll tell the pead she's wrong then, shall i???) and refuses to discuss the possibility of a genetic disorder. He has never asked once since i told him how it's all going. I get the sense that he and several other people think we are chasing all these tests and appts for our own benefit, not DS's. The reality couldn't be farther from the truth - we would much rather not see another health professional again, but we will do anything that will help DS & make his life better.

Sorry, i haven't offered any helpful advice really! Just wanted to try to show, as others have, that you are very much not alone in this. In general when people question why he's not doing what they think he should be, i tend to say that he jst has a developmental delay, and is having some tests. I now ignore the lazy / he'll get there/ he's a boy comments!!!

It's nice to know we're not alone (not that we'd wish this on anyone else of course!) I feel very sad too and worried about the future, I swing from wanting to know to not wanting to know!

Just wanted to say hi, and send you positive thoughts, my ds now 4 (Mod LD, ASD and lang delay)and it has been tough watching other kids reach milestones and we have had all the 'they are all different... he will grow out of it...he will be ok in the end.. it's just a phase etc etc'

but with lots of patient explaining family have come to understand better, (and love ds to bits), and we have found some absolutley amazing new friends, and had brill support from some existing ones, (those who have not 'got it' I have sidelined for the time being, not with malice, but cos I need to spend time in environments that are good, not those that add extra stress at the moment.)

I don't mean to offer platitudes, and I wouldn't presume to say I know how you feel, but some of what you are saying rings bells for us, and I wanted to say things have got much better as time has gone on, not cos ds has changed but because we are learning ways to live with... (and also what is available, SN MNs have been a great resource of wisdom!)

Wanted to wish you well...

Can I just say that these developmental delays sound similar to what I have been told to expect. My son is only 10 months but has been diagnosed with hypotonia. I have just started a thread, before I saw this one, but anyway, at 6 months he had only just started supporting his head and now at 10 months can just about sit, but falls easily, and is unable to hold things, and doesn't roll over. Perhaps you could ask your doctor if hypotonia is a possibility?

Hi - he does have hypotonia but from my understanding that's just the term for low muscle tone we're still trying to get to the bottom of the cause for this which they believe will be a fairly rare genetic condition as all the main genetic tests eg fragile x etc have come back clear including his MRI. Your timings sound quite similar to my son -he rolled at 13 months and began sitting completely unaided about the same time (he was quite unsteady until then) he's almost standing unaided but has to be put up onto his feet. He's been holding things very well and passing from hand to hand since about 1yr too but is pincher grasp still needs a bit of work!
Signandsay - thank you for your message your support means a lot xx

You are welcome

Keep us posted on how things go

Will do! Neurology next week :-(

hi sport. do you also get portage? We missed out due to delay in getting support but from what I've heard it is great for the kids and lots of support for the parents too.

in our case no-one really discussed dd2's issues in the family - she'd spent 5 weeks in special care and was really v poorly, so everyone ignored the fact she was missing milestones and having physio/ slt etc, just sort of whistling out of the window and looking the other way. the profs called it developmental delay until she was two, when i asked the consultant for a formal diagnosis (she had been in receipt of dla since 6mos). he said cp, but tbh i had self-dx that a year or so before.

my mother said 'oh yes, we knew that' when i called her to tell her we had a cp dx.

i think it's quite common for kids with dev delay to end up with a cp dx at some point. i'm fascinated that they are so certain they can pinpoint a genetic cause - have you had microarray done? neuros must be getting better!

Nickoftime - I've never heard the term microarray the geneticist said they'll be looking for a microdeletion and then will look for a specific condition. I quickly googled microarray, is this a group of genetic tests? It definitely hasn't been mentioned. Geneticist said he was 'certain' he had a genetic condition and was '70%' certain he'd find the cause in the next year - so fairly high odds! Our first neurology appointment is next week but it seems separate to genetics - looking at brain function, his MRI was normal!!

Crunchy - I'd never heard of portage had another google. Looks great but we're not mainland GB so I don't think it covers us but will look around to see if there's anything in our area - thanks for the tip.

Hi again sport have to say portage is (in our experience) amazing! we have lovely lovely portage teacher who is as chuffed as we are when ds achieves, also it's really nice to decide on the targets and short team goals together.

I only found out about it when I got stroppy about them not assessing ds (I am social worker in another life, so knew they should be assessing.) and the boss of the team met with me and mentioned it, and I got onto waiting list. But well worth it, also got onto list for special needs play/pre-school group, which has been so useful for a break for me, and info from the staff.

I know lots of people on here have had negative experiences of SWs getting involved, but it can be worth it to gain info about (and access to) what's available ion your area...

We've to see an educationalist specialist at 2.5 yr to assess his needs! I'm really worried that he won't get a nursery place. But I think I might see about a social worker in the meantime we only applied for DLA last month because we had no idea we could apply for it - he was first diagnosed with gdd at 10 months! So hopefully they'd be able to keep us right on the support available in our area!

Hi Sport, I just saw this and wanted to say hello. My DS is nearly 2 and has an unidentified genetic condition. The doctors were pretty sure that it was a certain syndrome, but the blood tests surprised us all when they came back negative. He has had a number of tests but the geneticists have been unable to find out what it is. All we do know is that he has a metabolic disorder and this is what is causing his low muscle tone and a few other issues. Ds is not walking or even crawling yet, but he has recently started to bum shuffle.

We live overseas from our families and so we have avoided a lot of the explaining (although I don't suggest that you move away!) I've found that different generations of my family deal with the information differently. The older generations are quite happy with thinking that DS has low muscle tone and he'll grow out of it, whereas the younger generations are more interested in what testing we are having done and finding out a reason.

I know what you mean about the physio and raised eyebrows. Once when my PIL's were visiting I took MIL along to a physio session with us. DS was upset for most of it and MIL went on and on and on to friends and family about how awful it was (she still mentions it!). It's almost as if she doesn't understand that the hard work we were doing with the physiotherapist finally helped DS to get himself into a sitting position.

I get the 'is he walking yet?' all the time, even from people who know about DS's issues, especially if we have not seen them for a while. Generally I just tell people that DS has low muscle tone. If they ask or look interested I will tell them more, saying that he has a rare metabolic condition and that we are still looking for an answer.

Me again! DS had a SNP Microarray done and as far as I know, it looks at the general make up of the chromosomes to see if genetic information is missing (deletion), in the wrong place (translocation) or doubled up (duplication).

The location of the 'error' can be linked to a known genetic disorder, for example 'chromosome 5p deletion syndrome' is also known as Cri di chat.

On the other hand the microarray may find that there is a deletion, translocation or duplication that has not been identified before and so will not have a name or disorder associated with it.

Oh right - I think then he's had that done but it was referred to as a chromosomal analysis which they said was looking for very obvious errors and widely known conditions - the next stage we've been told is this micro deletion looking for very small pieces missing or as you said unidentified conditions. All very confusing!

1980 we to had the basic tests done first wher elooked for the real obvious stuff and have just recentley had blood tests done for microarray

if they find anything theu will then look to see if it is prsent in me or xh and see if its a natrual occuring deletion

We have been told it is likely to be chromsome problem be intresting but been told will be a long wait