Is anyone else starting out on the road to a diagnosis? Fancy holding hands on the bumpy path?

[hazeyjane]

Ds (10 months) had 2 appointments in one today, a medical assessment and developmental assessment. He was referred at 7 months to the community paeds, due to developmental delays.

We are now booked in for some blood tests next week, and some physio, and have been referred to a SALT, for portage and to a special needs playgroup.

It is all so overwhelming, on the one hand I feel so much better, after months of waiting that I am able to do something. On the other hand I feel as though everyone is still scratching their heads over ds, and I just want someone to say, 'ah well Mrs Hazeyjane, your son has -- thats why he can't do these things, (well I don't, obviously I'd rather they said, 'ds will catch up and there is no issue, now be off with you'!)

I know that this is going to be a long process, is anyone else just starting out, or a little further down the road, for handholding, venting and advice?

Things feel tough here, progress is very slow. Sometimes I think that because the path of development is normal I should try not to worry so much. But then I pick her up from nursery and especially if she hasnt slept her abilities are so far behind that I am terrified.
She is also at the point where I feel if her communication does not make a big leap soon she will be very difficult to manage. For instance shes becoming pickier with food. So if she cries and we offer her food and she rejects it, we can no longer be certain that this is because she isnt hungry. So shes been losing weight (well not gaining) because we arent giving her enough to eat because we dont realise she's hungry. I find this food thing really really hard. I feel dreadful that we have been letting her go hungry.
I am starting to think that she has a serious mental disability. I dont dare say this to anyone yet.

Is that something you have worried about from the beginning, Firsttimer, or is it more of a recent thing? It is so hard at this age to work out what could be related to speech delay, physical delay or whether it is because of a learning disability.

Sorry you are finding it so tough at the moment. I am afraid I am in such a negative mood, I probably am not the best person to talk to!

I have had friends here for the morning, they each have a 5 year old and 2 year old (making it 4 x 5/6 year olds + 3 x 2 year olds + 3 adults = chaos). seeing their 2 year olds running around, chatting and playing purposefully with toys whilst ds spent the entire time being cuddled by me, crying when i tried to put him down, not going in his highchair, scooping yoghurt out of the pot with his hands - it all just broke my heart. I started talking to them about the genetics appointment tomorrow and had to stop before I started crying. Having to think about family medical history has bought up some stuff that I have squashed down for years, and is making me an emotional wreck. Fortunately one of my friends has offered to look after the girls tomorrow, so that should make our appointment easier.

Have plonked girls in front of tv and am cuddling ds, who is asleep in my arms, surrounded by every single piece of Playmobil ever invented, it is like a tornado hit the house!

Its recent in that its now she's getting older I feel we are running out of time to 'catch up'. Her lack of receptive language scares me.

Sorry about your hard afternoon. I find I can do less and less with other children right now. She's fine, I get upset. Sorry also about whatever in your family history is upsetting you. If talking about it on here would help please dont hold back.

So sad you guys are having a hard time and feeling so down.
Firsttimer, I've had times when I felt the same about DS1. For example I signed with him from the age of 1 and he didn't start signing back until he was 2 and a half. I was becoming seriously worried that he couldn't learn to communicate. Now at 3 and a half he has nearly 50 signs and is even learning colours. Even over the Easter holidays I've noticed progress. He is still way behind but things are so much easier now he has some communication tools. Don't give up.

Firstimer/Mavis - do you get portage? It's been fantastic for DS1 at pushing him forward and setting short term goals that we can succeed at. Also our portage worker has charted his development so I know exactly where he is in each area of development and now I keep the chart updated with his accomplishments!! Communication is WAY WAY behind everything else but is still moving forward, signing is coming and he is making more attempts at speech sounds now but it is very slow. The Ed Psych sees him on the 24th so I guess I'll get even more info then.

Hazey, hope everything goes OK today, will be thinking of you all x

Hello, genetics appointment went 'well' in that the dr seemed to think a genetic cause was likely. She is arranging for a cgh array to be done. She wants to show photos of ds to her colleagues to see if they think any other tests should be done. She said that if the cgh array doesn't lead anywhere then she will put ds forward for the ddd study. She also wants ds to have a scan of his kidneys, because of his ear pit, which van often be linked to abnormalities of the kidneys.

It is very frustrating that I was asking for this to be done a year ago, and in the meantime ds has had to have an mri, and numerous bloodtests. Ah well we are here now.

The geneticist was easy to talk to and very understanding of my complicated family, but I am very glad my dds weren't there (a friend stepped in at the last minute to look after them) as I got a bit emotional talking about it all.

We have to wait 2/3 months for the results. It's going to seem like a lifetime.

Hi Hazey. I was thinking about you today. I had forgotten that you said that your DS had a preauricular pit. DD has two pits, and they are apparently also present in a lot of craniofacial conditions, so I suppose it must be classed as a genetic marker!
I hope that you don't have to wait too long for your results. We had a long wait for answers that we never did get in the end. It was inconclusive. So we've had to rely on a clinical diagnosis.

hi, just read your thread. i was i the same predicament for around 6 months. i took my daughter to the docs for a refferal to a pedeatrician because she was 10 months old and couldnt sit up, she was still floppy like a 4 month old. after blood tests, genes tests, urine tests, a full body m.r.i scan, she even had her results sent off to great olmond street and abit of physio therapy. we finally got the results that she has 'delay in maturation of the brain, minor degree of plagio and less white bulk matter in her brain' the white matter means something, its important. now hers is thereits just she doesnt have as much as what would be expected in a child her age. she has an immature brain. shes 20 months old and theyre thinking right now her brain is more like a 9 month olds. and plagio is flat head syndrome, she has a minor degree. the thing is we didnt expect there to be anything different in her brain because mentally shes so on the ball, she tries to copy, shes observant and when she plays with her toys its not all 'bang this, bang that' shes quite gentle. but what weve been told is that its a part of the brain thats connected to the body which tells the body how to move is delayed. she is sitting unaided now, rolling, and shes just started kneeling in her cot and weve caught her pulling herself to stabnd a few times recently, it is a struggle for her gith now but we know shell get there. shes continuing physio therapy, she has play therapy and will be starting hydro therapy. she is being monitored by the pedeatrician ad will see him again in june. right now she has to be supervised at all times (90% by me the other 10% by daddy when hes not working) she has to be carried from a to b but thats just the way things are and were just looking forward to when shes walking and is more independant because we know that shell be more happy then and less frustrated. have hope, always go with your gut instinct as a parent if you think somethings not right or not adding up. aslong as your chils happy thats all that matters really isnt it x

Hazey - good your geneticist was approachable even if the appt was tough. Sorry about the long wait - it never seems to get any easier to wait for results does it? I hope things dont take quite so long - I have had a few positive surprises with waiting times as we get further along...
Hanbee - we have portage - or the Scottish version - I find her kind of useless. I dont really get what her expertise is so she comes she plays she leaves. I dont see the point of her. (sorry she bugs me) she dis a development chart thingy but its not been updated or reviewed.
mavis - I understand you I think on the learning disability. I find this the most difficult bit - I really would like to know what is going on in her head and we have no idea. Its awful because I go between thinking somethings must mean intelligence/cognition and then thinking its all random or totally lacking. I keep seeing children pointing in prams or stuff that tells you they are thinking and learning and the longing that going through me is indescribable.
Hi Misslala - you sound like you are in a good place in relation to things just now. I hope I catch some of it!

Well, ds is finally getting his portage, after and 11 month wait! Fortunately it is with a really lovely lady who he seems to like, she is coming on Wednesday, so we shall see what happens.

SallyBear, hello! If you are still about on this thread - did your dd have a kidney scan because of her preauricular pits?

MissLala, I am glad you are in a place wher you sound so positive. I am there too sometimes, but this thread is a good place to vent on those days where it all seems a bit hopeless or overwhelming!

2 appointments this week, physio tomorrow (our first appointment since before Christmas - which is rubbish imo!) and opthamology on Fri. I'm dreading the opthamologist because it will just be me, and i know it involves eyedrops - which ds is going to hate. has anyone else seen one? I'm not sure if there is anything going on with ds's eyes, but he has very 'starey' eyes which sometimes don't seem to track things properly, one eye is quite droopy as well and he sleeps with his eyes open!

Hi Hazey. No she didn't have a kidney scan, as her preauricular pits are part of Treacher Collins Syndrome, that and colobomas on the eyelids and missing eyelashes. Thankfully her eyes are fine and intact. Some kids with TCS can't close their eyes properly at all, ever! DS4's eyes don't always close properly.

Oh yes, meant to say we had the refraction eyedrops. They sting, make the vision blurry and then dammit they shine a light in your eyes!! No wonder I got DS's done under a general. Not surprised you're not looking forward to that bit.

hmm, I'm starting to think dh might have to take more time off work...

Hazey - I hope you fine portage as positive as we did. Ours is about to end and DS1 will really miss our portage worker, he just loves her! Good luck with the appointment.

I have someone coming round tomorrow from Contact a Family to help me complete the DLA form. After all the things I've read in mumsnet SN boards about the DLA process I'm feeling a bit nervous about going for it but we really need the money to help with all the appointment costs and extra things DS1 needs.

Hanbee. Look at the cerebra DLA guide. It was a fantastic resource, and I am sure it is what helped me get Littlebear's award increased.

Thanks Sally, I've downloaded the guide but keeping stopping and starting over and getting the fear I'm underselling everything. My portage worker sorted out this lady to help who's done tons of them do hopefully I get it done and sent off rather than sitting in a puke for yet another six months!

I meant a pile, not a puke. Bloody iPhone, but Lordy, I did make myself laugh with that typo!

Thought I'd check in on this thread now everything has died down-am now a married woman! Now panicking at everything I need to do before the baby is born and how to prepare dd but thats another thread.

Hazeyjane glad genetics went well, we prob have the same geneticist and she is really lovely if so. She said she'd try to get us an appointment before the baby is born to review things so am hoping to see her soon.

I tried to write a list f the various diagnoses that dd has which vary greatly according to who is writing the report, they go from speech and language delay (endocrine dr) to developmental delay possibly caused by chromosome deletion (neurologist) to severe speech production, receptive and expressive and processing difficulties and microcephaly (ed psych) oh and many others such as profound difficulities (in relation to language and understanding of) and learning difficulties and possible epilepsy. As well as her genetic disorder which at least is straight forward as its very definate!

It is so confusing I just want a quick way of explaining it! She also has glue ear and chronic constipation and excema/psoriasis it gets longer and longer its overwhelming at times. How school are meant to know whats what when I don't even know which diagnosis/combination of them is right!

Hanbee your iphone made me laugh! That really would be unpleasant!

I need to do our DLA renewal soonish, usually get the carers centre to help or contact a family, would recommend either, hate the things!

Thanks and thanks for the lovely posts before hand too everyone. I have had to do DLA forms three times so far and have always had someone help me, I would worry too much over them otherwise. So far DD has always been awarded high rate, even when she "only" had her genetic condition (well was too young for me to know about all the other stuff I mean). I know of others with her condition who have been turned down-they would have the same potentially life threatening condition so I do think its the way its filled in a little bit, some I know were turned down as they had focussed on how much the condition costs them ie hospital trips, time off work etc rather than how much extra care they are giving and what would happen if they didn't. However if you have the cerebra guide it probably tells ypu how to word it. The carers centre lady actually wrote the forms for me with me dictating-she asked me more when she needed more info which I thought was great, it really took the weight off my shoulders.

Go BabyMavis! It's a lovely image, rolling round the house. My two both love rolling and are most amusing when you say "roly poly" to them they both start rolling next to each other across the floor.

My main reason for getting help with the form is just so I make sure I have a dedicated time to sit down and complete the form and be happy with it. Now DS1 doesn't take a nap and DH is working away Monday-Friday I've found it hard to sit down and give it the time and attention it needs. DS2 is such an appalling sleeper that I rarely get more than an hour of uninterrupted evening to concentrate on it.

Rolling around is great, Missmavis - ds didn't roll for ages, all part of his weak core I think, and the fact that he is a pretty chunky little boy, so he gets stuck! He still strugges, and his cot is still on the highest height, because he doesn't roll or pull himself up. Not that he ever sleeps in his cot anymore....but that is another hurdle and another thread!

Ds saw the physio and occupational therpaist today, our appointment overran by 40 minutes, because it was such a long time since the last appointment, and I had a loooong list of questions and worries. Before I even got a chance to ask any of my questions they threw me with a long discussion about ds's clinginess, separation anxiety and utter hatred of being touched (looked at, talked to etc) by people he doesn't know extremely well. Dh and I are aware that it is a problem, but it is becoming more of a problem as time goes on, because it really is stopping him access therapy that will help him, especially speech and language. I am going to start a thread asking for advice about ways to move forward, but if any of you lovely people have any ideas, please let me know - I am a bit overwhelmed about how to do deal with it to be honest.

Oh and ds is being issued a walker, I am on the one hand really pleased, because it means we can walk in the park to feed the ducks and it will give ds confidence and help build up his stamina, and give him a bit more independence . On the other hand it will be the first time out that ds looks obviously 'different', i know i shouldn't worry about this, but reading that AIBU thread about the adults in the park with LD opened my eyes a bit to the way that others view people with special needs.