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?

[crazycatlady]

thanks for the Cornwall advice hanbee, will definitely pm you when we move. It could be a while though! We're starting to property hunt in the new year I think.

I've been having a bit of a black week this week thinking about the future and how many unknowns there are about DS's development. Which is silly given that he has had two major 'firsts' this week - 1) holding his head up properly when sitting supported and 2) reaching up for toys when lying on his back. Until now I've had to really help him with his head while sitting, and put toys v close to him as his sensory issues mean he hates reaching out far away from his body.

I know he's only 5 months, but I am trying to keep him somewhat in the realms of 'typical' development as much as we can, while we can. It's hard work. All the things that typical children just do naturally, he needs to be coaxed and helped and taught, gently and patiently...

firsttimer I felt totally emotionally drained and a bit lost after we'd seen the paediatrician. It's like it interrupted the natural course of our lives somehow and all the enjoyment we have with DS is swept aside and replaced with the stark language of scary medical journals. I felt a little disconnected from him afterwards. Didn't last long but it's horrid.

Having the move to look forward to, and feeling like we are making some progress with DS's physio is helping. Having you lot to talk to is brilliant .

[used2bthin]

1980 yes my mum is very like that, I have to be careful how much I say and she tends to outworry me-thinking further ahead than me and coming up with what ifs that haven't occured to me yet! It should be the other way around definately! When she was driving me mad after dd was born and diagnosed with the genetic thing my friend said that my mum was experiencing the worry doubly-worry for me and worry for dd which is probably true. Still annoyong though!

firstimer I totally get what you mean about appointments, its a bit of an adrenaline rush. I am feeling like that about the neurology and mri appointments but have to keep reminding myself that they won't be the end of this even if we get a diagnosis. Research really keepss me going I can always tell when I am positive about things as I will be researching and doing therapies. As opposed to googling conditions till 2am or just pretending there is no issue!

[hanbee]

Hi everyone

I've just downloaded a load of the early support documents from the internet. You may have already heard or seen them but I wish I'd had them earlier. Particularly the development journal which helps record what dcs can do rather than what they can't. Have a look on the department of education website if you haven't already!

[1980Sport]

Used2 - you've just described me to a tee!

[used2bthin]

lol 1980 I thought that when you said about healthy and unhealthy research-its good to know I'm not the only one Or morbid as XP put it when I was doing all this about DD's genetic condition.

Re early support we have the developmental journal. I share it with playgroup and dd's keyworker ticked off some stuff she does there and not at home. I have found myself panicking at all the stuff she can't do too though of course!

[hazeyjane]

Have been away camping for the week (floods and having to walk ds around campsite for a couple of hours a night, so knackering but fun!)

Will catch up with this thread later, hope everyone is ok.

[used2bthin]

Glad you had a good time hazeyjane. DD had a fit last night so been a bad day full of hospital phone calls and doctor and being on here worrying about it. Then got back from dr and had a letter from the geneticist saying dd is missing a very small peice of chromosome 4 so they are going to test XP and my blood to see if it is significant.

[Firsttimer7259]

Hi used2 saw your other thread about the possible fit. Sounds really scary, hope you have had supportive doctors etc. Wishing you the v best

[LadyLou30]

Hi ladies
Its been ages since i've been on here, just trying to catch up after a month of holidays and weddings etc I posted a while ago about my son who has low muscle tone with no cause found so far after various genetic testing. Our neurologist has run some more tests, i think specific to his muscles and some of them have come back normal and we just waiting for the rest.

Since i last posted my son has had another physio session and i've asked for him to be seen at least once a month. She was still failry happy with him but gave us some insoles for shoes to be fitted which will hopefully encourage him to feel secure enough to take some supported steps. Have to say though i did go and have a look at shoes but they are so expensive to just 'practice' in and he'll prob be out of them in a few weeks - not sure what to do about that!! Although since he turned 1 he really seems to be progressing (in small ways) but i've def noticed a difference in how he is moving and he now seems to have more confidence in reaching for things. He has taken to bum shuffling, well kind of bouncing to get places - he loves being on hard surfaces as its easy for him :) He is pushing way up on his arms now and has on a few occasions got his hips off the ground too while on his tummy. He is so so so desperate to move bless him.

While we were on holiday in northern ireland we did have to go to Childrens A&E as he was having trouble breathing and a chest xray confirmed a chest infection. It might have just been one of those things all children get but ii've always been worried about his internal muscles, his chest always sounds a little rattely and wheezy but have been told that low muscle tone children are more susceptable to chest infections but that he might be ok as he has a strong cough!! Was very worrying.

Its good to read how you all cope. I'm not coping right now but its not all related to worry about my son, more likely depression and i just feel like a rubbish person in general but i am trying to fight my way through it. Accepted anti depressants as i just want to be in a place i can help myself.

Will try keep more up to date with this thread and get to know you all a bit better :)

Lou xx

[hazeyjane]

LadyLou30, hello, I have pm'd you.

Used2bthin, I have just caught up with your thread, how scary for you. Ds had a 'funny turn' a couple of weeks ago, which the gp thinks could have been a fit, we are seeing the paed next week about it.

[crazycatlady]

used2, sorry to hear about DD's fit. Dealing with that and having the letter from the geneticist all at once is a lot to cope with. How are you feeling about it all now?

When is her MRI booked for?

We just had a call from the hospital. DS's MRI is booked for Thursday next week. Apparently he needs to have a general anaesthetic. Is this right? He's only 5 months old. I'm so worried that if he does have a chromosome problem that he may have an undiagnosed heart condition and his little body won't cope with the general anaesthetic. Suddenly terrified.

[Hayley16]

Hi crazycatlady

My ds had an mri under general aneathetic a few months ago & he has a hole in his heart & we had no problems. Hope that puts ur mind at rest a bit :)

The whole experience is terrifying i hope it all works out for you

[crazycatlady]

thank you hayley, yes that is reassuring. How long did it take for results after your DS's MRI?

I just keep thinking of his little tiny body in a small hospital gown and getting all choked up. He is so small and vulnerable. I can't bear it. I knew he was going to need an MRI but now it's booked it's real.

I don't know how to get through this. Am trying to keep everything normal for DD who is 2 and a half but it's so hard. All I want to do is spend my time researching info or cuddling DS and hoping if I cuddle him enough all his issues will magically disappear .

Feeling very low about it all right now.

[Firsttimer7259]

Hi crazycat sorry you are having a hard time. FWIW my DD had an MRI a month ago. She was just shy of 18 months so older that yours but I found the concept of her being under anesthetic heartbreaking. In the end it was actually a good day. She loved the hospital staff and the 'attention' as various people came round to check vitals etc. Staff in children's hospitals are, I think, generally just really good at being child friendly. So your wee boy may not really find it all so awful. When they are so young I guess they understand less and so weirdly I think this was easier with my baby than it would be with say a 6 year old who could understand he's in hospital and something serious is going on. My dd just thought the hospital cot and lights and toys were fab.

Doesn't help you really tho. There is all the anxiety and the wishing, whcih I struggle with too. But on the gown, my girl wore her own clothes, just nothing with any metal, buttons. So she had a cute dress with legging on to make me feel better. (this was just specified in the instructions we got for the MRI) Are you sure he'll be in a gown? Check your instructions. Maybe you can put together an outfit for him that's MRI friendly? I know its superficial but it did help me that she didnt look like a patient.

[Firsttimer7259]

Also remember they do this every day! Every day! not to say its not terrifying as a parent to have your child anesthetised and not to say there aren't risks. But they do this every day.

[crazycatlady]

thanks firsttimer! I think I'll put together an MRI friendly outfit for him and see what they say. On the website it says they'll be in a gown... but if I can find any clothes in his drawer that don't have metal poppers on I'd so much rather he stayed in his own outfit. It does make a difference somehow.

I'm feeling a bit more positive today. Just took DS to the GP to get some eye drops as he has a gunky eye, and he said he seems like a completely different baby to what's written in the 'doom and gloom' paediatrician's report. So that's something I guess.

How long did your DD's MRI take? How was she when she came round from the anaesthetic?

[Firsttimer7259]

She had her last food at 7 -7.30 (I cant remember exactly) then last drink of water at 11 (?) The scans started at 12, they organised the list by how long the different children could wait. So we had a scan from 2-3, a younger child went before us. I thought the waiting without food would be a nightmare. It was ok, she was so excited she didnt notice! usually she's clamouring for a snack by 10am. Started making some hunger signs at quarter to two but we distracted like crazy.

She was hungry when she came round, had a little food and drink and we left pretty soon after by about 4. They checked she wasnt nauseous etc. It was a long day. H came along too that helped keep it fun and we could alternate looking after her. We went off and had a coffee in a cafe outside while she was down. It would have felt a lot tougher on my own.

It was a brain scan - I think different scans take different amounts of time

In terms of outfits, as well as no poppers also no sparkly motifs etc. Maybe some special PJs?

[crazycatlady]

thanks again firsttimer! It is for a brain scan and I guess since he is only 5 months that he'll be toward the top of the list. We've been told to arrive at 8am.

I was thinking of getting him this to wear on the day and as a special outfit for being a brave boy. Well, really to ease my own guilt at putting my small baby through such a thing!

[1980Sport]

Hi Crazycat - DS's has his MRI at 15 months. The staff at the hospital were amazing, he was the last to be taken. 3 before him so I was panicking that he was going to start getting hungry but in fact he dozed off, so I was able to carry him down to the MRI suite. They administered the anesthetic while I was holding him and they allowed me to help put him onto the bed and get him ready for going in. The hardest bit was walking out of the MRI suite and leaving him, I got very tearful but the Doctor promised me that he'd look after him and have him back up with us as soon as possible. I can't remember how long it was now, maybe an hour - he came round really quickly and had no ill effects. He was in great form, ate and drank straight away. I took the next day off work but there was no need really he was absolutely fine. The results were about 6 weeks and we went up to the hospital to get them.

[used2bthin]

Hi, dd's MRI is on 11th october it feels a life time away. But neurology appointmment next week to discuss meds. What was your dd's turn like hazeyjane?

crazycatlady dds MRI will be her fourth anaesthetic, her first was due to be at six months but kep being cancelled due to colds or her levels being wrong (to do with her genetic condition) so she actually had it at 13months but I remember the stress before hand with her being so small but honestly it has all been fine. She usually is first on the list due to her condition but we were told as a baby she would have been anyway as they often go youngest first.

It is worrying but I think for an MRI it is a short time really. DD had grommets recentl and I was ready for the agonising wait that I'd had for her operations and it just wasn't like that because it was so quick and she just dealt with the aneasthetic so well so I am less worried about the general for the MRI now. I remember the anaesthetist saying to me that the risk is probably less than the one we would be taking on the drive to hospital! I know this doesn't take away the fear and it is still traumatic but it did comfort me a bit. I also tend to buy dd nice stuff for hospital it makes me feel better I know what you mean so I say yes to the pjs they are very cute!

[used2bthin]

sorry hazey I meant your DS!

[hazeyjane]

He was screaming, and his eyes were open and bloodshot, but he often sleeps with his eyes open and he didn't really seem awake. His jaw was clenched, and when i picked him up he was rigid (he has low muscle tone, so he is normally very floppy and heavy). I ran out to the garden with him to call dh in, and we laid him on the floor and loosened his sleep suit, he was freezing but drenched in sweat, and his throat looked swollen (distended?), the scream was kind of a strangled one. It was as though everything was clenched. we were trying to decide whether to call an ambulance, when he started to relax, and go floppy again. It probably only lasted about 10 minutes, but it was very scary. Our gp said it could have been a seizure or fit, or it could have been that he was choking on fluid that had pooled in the back of his throat (he drools a lot) and went into panic. We are seeing his paed next week. He is on a waiting list for an MRI, he was down as an emergency, because there was a fear that he may have spinal muscular atrophy, but his genetics tests and test for SMA came back normal. He has been put back on the normal waiting list, which here is average 6 months wait!

[used2bthin]

That sounds so frightening for you and a long time too. I kwym about rigid/floppy I tried to pick DD up when she was in hers and I couldnt move her then the only reason I knew she was "back" was her body suddenly seemed less rigid.

Long wait for the MRI too then, for us July-oct was us being on the urgent list!

dd also drools a lot btw.

I have felt so anxious at night for dd and feel really aware of how I am with her-not shouty or too busy to do anything which I think I had slipped into a bit with the stres of everything so in a way its actually improved my relationship with her at least for now as she has had some challenging behaviour recently.

[Firsttimer7259]

crazycat - cute outfit!!! Hope they let him wear it and it makes you

hazey - that sounds beyond terrifying

Goodnight all, far too tired to post longer, hope you are all ok

[Hayley16]

Crazycatlady
We are still waiting for results :( Taking forever. For us the results will help docs see whether DS needs a skull op so very scary :(

Hazeyjane
Sounds like a horrible experience with ds :( You must feel very worried about it. I hope you get some answers soon.

We got ds tot stander last week. He totally hates it :( Physio wants him to go in a few times a day for 5 mins each time but he cries so much & gets so sweaty & worked up i feel awful doing it. Anyone else ever used a tot stander? Im hoping he might get used to it eventually but i just can't see it happening.