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?

Anyone still here??

Hi firsttimer, I replied but my phone had a wobbly and refused to send my message! Your last post really got to me, I feel exactly the same. DS1 is my first child and his development problems meant that my first two years of parenting were less than happy. I struggled as a first time mum to get anyone to take my concerns seriously (health professionals and family). I got a lot of patronising pats on my shoulder and felt I got an overly anxious mother label at the hv clinic. I had to fight to get him referred and even when I did we had a year of procrastinating even though he was getting further behind. Even now when support for him is coming together at 2.9yrs I still feel bitter about the time we lost.

Since having DS2 I've become painfully aware of what I missed out on with DS1, enjoying each new development that just seems to happen and not with stacks of input, worry, tears and relief. I don't feel I will ever relax and enjoy parenting as I might have done with a different first experience. I do feel a bit robbed even though I love DS1 hugely.

Sorry, I am still here, but struggling with the Summer Holidays! Trying to keep my dds happy while carrying ds around (he is out of whack with the different routine, and won't sleep, but is tired from the new effort that sitting requires!)

So this morning i have deemed as a day of just letting the dds watch tv, and eat snacks and ds is finally asleep (he was up at 4.30, as was I!)

How was your dd after the MRI, Firsttimer? Did she have a general? Ds is booked in for one, but he has been moved off the urgent list, so we may have to wait as long as Christmas, before he has it. 2 weeks wait isn't too bad, but i know that every second waiting for results feels like a lifetime. Do you have any inkling as to whether they will find anything?

Ds had a 'funny turn' (pretty far from funny though) the other evening, rigid, screaming, sweaty, my instant thought was that he was having a fit of some sort, or that it is tied in with the fact that his SALT thinks he may be aspirating. The dr didn't really know what to think, but told me to monitor it if it happens again, and to not feel scared to call an ambulance.

It really feels as though we are creeping through a dark forest, sometimes the way seems clear, and we have a little ray of moonlight coming through the trees, and it seems like things aren't so scary after all. Then the moon goes behind a cloud, and the trees thicken, and all we can do is cling on to each other and hope we don't stumble.

The whole process is exhausting, despite the amazing support we have received so far, it must be even worse if you have really had to fight for the support.

hi everyone , sorry your all not having a good time with it all at the mo it must be so stressful and worrying , HAZEY that must of been very scary for you i hope you don't have to go through that again x. we have been very busy with lots of appointments they said ds's boney lumps have got nothing to do with his development delays and that they would keep an eye on him as the one in his wrist is making one bone shorter then the other and will cause probs so will need ops in the future , his physio is worried as his development is so slow and thinks it could be cerabal palsy which i was thinking but is hard when you get someone saying it to you just need to get the pead to dx it , the physio also thinks he might not ever walk unadid and that is the thing that has really got to me :( she said she will up the physio so am hoping that helps and we start to see improvement and he is starting oppatunity classes in sep so i have hope with all the help that he will get better cause all you can have is hope when you just don't know what the future holds for our little uns xx. n

Hi all, sorry about the stressful experiences around, esp hazey and kell. I hope you get the support and help you need right now. I am so so sad inside and its so difficult to find a place to let it out because I need to keep going. I dont know how you find the balance when you have an ongoing worry about your child like we all do. Anyway I wish you all a little space to look after yourselves this weekend.

:( So sorry to hear that everyone is having such a hard time. I really hope things start to look up soon :( Think its about time we all had some good news & our dc had a break.
We have still heard nothing about our mri results & whether ds will need this op. We find out 2moro so i will come back & post then as i dont have much time now.
I did mention in my previous post about the SWAN support group. I use it via facebook but they do have a seperate page. It has lots of childrens stories on about their conditions. I sat down last week & wrote my ds story up & it really helped me put everything thats happened in place. If anyone is after any extra support the group is great & they are all so helpful.
Here is the link to the website & my ds story on there.

swanuk.wordpress.com/2011/07/26/freddies-story/

.

Hayley, good luck today with finding out the results of mri. I hope you get some answers, and feel able to move forward from there. Thankyou for posting the link, I started having a read last night, and then ds woke up! Your little boy looks adorable.

Apart from ds's funny turn last week, things here are pretty good. Ds is doing well, sitting and playing and is enjoying having his sisters around all the time. I think that when ds is ill, or the day seems relentless with carrying ds and doing physio and worrying about him feeding etc then i spend more time on the why, why, why. When we are pootling along like this I spend less time worrying and can enjoy ds for the little cutie he is!

What a lovely chappie Hayley!! Such a sweetie, I loved seeing the pictures of him getting more and more smiley as I scrolled down. Cried over your story, its very factual and controlled but I really know how much it hurts to be on this journey.

So mad!
Freddie had his MRI 3 weeks ago & for the past 2 weeks the craniofacial nurse has said she would ring us to tell us whether Freddies needs an op on his skull. We found out last week they hadn't even looked at his results yet & they were finally looking at them yesterday. I spent all day waiting by the phone for the call & by 3pm i gave up waiting & rang them. The nurse i needed to speak to wasn't availble but i was told she would call back....she didn't.
Rang this morning & spoke to receptionist who told me the nurse is now in clinic all day so i won't find out at least until tomorrow. She says they had arranged for us to go back in for a meeting with neurologist but its not till the 13th Sept!
I don't think they realise the stress not knowing is causing. I feel so angry with them for leaving me in the dark.

Oh hayley, how bloody frustrating, i am angry on your behalf. I hope you get some progress tomorrow, and are able to push for an earlier date than Sept 13th.

Hayley that is so rubbish. I think sometimes health professionals seem to forget that we are people with feelings and that although theyre dealing with AN Other patient that it's peoples lives that their attitude affects.

Here DS1 has just had his first visit from new physio. She came to our home and did a fairly thorough assessment but measured him at between 12-14 months generally with some areas further ahead. He's 33 months .

She also said she feels he has something more than dyspraxia and it's likely to be a spontaneously occurring genetic issue .

Grrrrr on your behalf Hayley.

Hanbee Im really sorry that you have had this bad news. Is this being investigated? Its difficult to deal with peoples 'probables' (good or bad). I have my fingers crossed that the physio is mistaken.

The plan is to refer him for tests in the autumn: I think MRI for brain damage and bloods for genetics etc. I felt really down about it since, stupid as it doesn't change anything but I was surprise she thought he was that behind. He's been walking for nearly 11 months now and I thought the average age for starting up walk was 14 months?! He's climbing a bit, onto my bed, a low sofa etc. I really thought he'd be around 18 months at worst .

hi everyone hope you are all ok x i'm feeling very stressed at the mo i don't know if its the way i'm feeling but peoples comments seem to be really getting to me if ds just sits abit longer then they say oh his doing really well i'm sure there is nothing wrong with him and i'm like yeah alot of 18month olds are just learning to sit i know people are trying to be postive but come on , my dh went to look at his sis cooker the other day as not been working and her dh said you just don't know how stressed i have been over it ( i wish i only had to stress over a cooker lol) and then his sis said if i was ok as i seem quiet at the mo and he said well we have got alot going on with ds and our older ds as his being statmented as his very behind at school so having appointments about that and to top it off i'm going in to have my gallbladder out on fri so feeling abit worried about that , i'm sorry for the rant just think i'm having a bad week and don't know anyone that know how i feel, i sure hope we all get some postive news soon big hugs to you all x

Hi, I haven't been on this thread for ages. I've 'chatted' to some of you on other threads tho! I had a quick catch up, sorry so many of you are having a crap time :(

We've reached the end of the line with testing and we've fingers crossed that DS is going to get on to DDD. We're in NI and we always seem to be the last to do anything!

If it's of interest to anyone, we had the microarray done privately at TDL lab - the results were back in 6 weeks and the cost was £500, a lot of money but not as horrendous as we thought it was going to be. I was really struggling with the wait and knowing that the array was available but we couldn't access it so I'm glad we got it done even if it didn't provide any answers!

Anyway - hope you are all well, stay strong x

Kellbell - I've also had a lot of "he's fine! I'm sure he'll catch up!"; mainly from my in laws. Whilst I found it massively annoying, and also not very understanding of my concerns and the stress we were under I believe that it was/is their way of protecting themselves. They don't want anything to be wrong and this helps them believe it. Problem is you need some support and other peoples seemingly denying there's a problem also denies any right to needing additional support. Mind you I guess it's hard to know what to say to people in our situation.

hi all, I am on the genetic thread and "know some of you from that or others but thought I'd join after reading the last page and realising there are others waiting for MRI's etc.

DD nearly five hs a genetic condition she was diagniosed with at birth so we've had five years of appointemnts, hospital and a fair bit of worry then she was diagnosed last year with specific language impairment too. After a couple of funny turns an eeg was done and it indicated epilepsy so due to this and dd's very small head we are awaiting a neurology appointment and MRI and various genetic and metabolic tests.

Lots of sympathy with the waiting for results that take ages. I hasd a similar story to you Hayley for the eeg and the ecg that was before that. Its impossible to function normally for days on end it just draws the whole thing out.

Can someone hold my hand for a while please?

Dd2 is deaf, we know that much at least. Profound on one side and a rare loss (reverse cookie bite) on the other side.

Had loads of tests, bloods, ECG, general eye test, MRI done. All came back normal.

Not being referred for assessment for ASD, and more blood tests (from bloods already taken) and ERG on her eyes again.
And trying to get to the route of her balance problems.

I am absolutely dreading it being usher syndrome. made the mistake of looking it up. And desperately trying to talk myself out of thinking that it is obvious that it is Usher.

Hi Vera - I'll hold your hand! Has someone suggested Usher Syndrome to you or did you find it yourself? Google can be great but it can be out own worst enemies too! Don't forget what you read on the Internet is often the very worst case scenarios written in very stark medical type words - behind the diagnosis there's happy, smiley children! I spent a good couple of months living on google trying to diagnosis my DS, one syndrome was suggested and it seemed to fit perfectly, however the test came back negative! I think the good thing about having an idea about what it may be means you can prepare yourself and it's not such a shock! What age is your DD?

They've spoken about ruling it out. Because of her balance problems. And I know I'm just getting hypercondrial about it. I could have sworn the MRI would have shown something, I was prepared for that, but it didn't. And now I'm just over reacting. I know I am.
I think it's because I was expecting some answers today, but didn't actually get any.
Dd is 3.

Ruling out sounds more like they don't think it is?!

I was expecting a brain damage result from the MRI too - after a long labour ending in him getting stuck and forceps! It's horrible waiting for all the results, building yourself up and then nothing! And if you were expecting answers today that's even more of a let down! Things will calm down in the next few days, no point telling you not to google I think I sat up until the early hours one morning looking at endless photos and comparing my DS!

Hi all thought I'd join you! Dd2 is 2 been at CDC for a year. Pyshologist says she's fine and it's basically down to my parenting (don't get me started), paed says possible dyspraxia and asd traits. Private salt says verbal dyspraxia not really any signs of asd.
Me?? Well I'm banging my head against tue wall and drinking vino:)

Nightmare chundle! I suppose that leaves you in limbo land not being able to access thd proper support! I'll join you with the vino, my DH is off this week (I'm still on mat leave) so I feel like I'm on my holidays too!! Sitting eating toblerone and drinking wine!

Well the MRI results are in. DD has some white areas on her brain, they think its a normal variation but we need to do it again in a year to be sure. Aaaaargh! I was so hoping that the MRI scan would give us a straight up normal cos she's been making loads of progress. I know this is still a normal but its just not nice and clear. I really wanted something to hold on to as an 'at least thats ok'.

Anyway all the blood work so far has been clear.

how are you all doing? I find that (amazingly) I have somehow developed the ability to switch off from all this. Life goes on, we wait, we get happy about progress, sometimes we get a bit sad when we see her peers racing ahead but...its our new 'normal'.