I want a diagnosis for ds NOW

[emkana]

I know I need to be patient etc., but it's so bl*dy hard to look at him and to always wonder, wonder, worry what the future will hold for him.

Aaaaaaaaaaaaaaaaaaaaargh

Aw sweetheart.

I was just wondering about this the other day. As you do, wonder and worry about perfect strangers, funny place MN.

Anyway I digress, what is the state of play, is it just a case of false alarm or has there been a partial DX ??

Well the radiologist thinks there is some sort of skeletal dysplasia, but unsure which.
Today they took another x-ray, off ds's spine - will have to see if that reveals anything.
I am going to see somebody in Germany this month, maybe he will be able to help, but I don't want to put my hopes up.
Here doctors spectacularly unbothered - no further appointment with consultant until October.

I just decided I'll keep bumping this until you all share your diagnosis tales with me.

Sorry emkana sometimes it is like this. DS1 we suspected something was wrong at 17 months, but dx didn't happen until he was over 3. (although partly that was the NHS being crap).

We think ds3 (at 18 months) is OK, but for quite a long time we weren't sure, and I still have times when I'm not sure. I think all you can do is to practice not thinking about it, so that you stay sane (whilst at the same time trying all avenues you can- but dump any guilt if you were thinking about feeling guilty about anything at al- easy to beat yourself up for not doing enough when you are run ragged).

xxxx

Also worth remembering that a dx doesn't tell you that much. OK ds1 was dxed with autism at 3, but we thought he was going to be high functioning (everyone who saw him at 2 said if there was anything the matter at all it was very mild. In fact aged 7 it's clear that he's severely autistic and probably won't ever talk (I say probably because he might- int he words of Charlotte Moor- I can't imagine it, but he might). Anyway point being that a dx didn't tell us much- worth getting as it helps get services, but no use for "knowing" the child. I also know people who were give then dx and told their child was very severe, and those same children are doing really well now- streets ahead of ds1.

thanks guys.

I get so irritated because in Germany so much more would have happened by now - not that they would necessarily know all the answers, but at least they would try.

For example the radiologist's report - I really feel that I should be talked to and be told "This and this can be seen on the x-rays, and it might mean..."

but instead I'm being kept completely in the dark and treated like a child really.

that's a lovely post fio

emkana, I'm in the same boat as Fio, and have no diagnosis for dd (aged 2.3). I have now come to terms with the fact that she is who she is, and no label will make any difference to that. However, it took me a good 18 months to get there, during which time I felt incredibly frustrated and angry about not knowing her dx. I'm ashamed to say I even envied people who knew what dx their kids' had, because it made getting support easier.
Sadly, I just think that the doctors just don't know sometimes, as medicine and genetics have not advanced as much as we'd have liked them to. I also suspect that docs are sometimes fearful of saying the 'wrong thing' until they're absolutely sure, either way. Our GP failed to tell me that the HV had told him that she thought that dd was fitting (!!), so I do understand where you're coming from, truly I do. As dd's parent I absolutely felt it was my right to be presented with all the facts, and was flipping angry that some of the facts were being witheld.

Anyway, listen to Fio and Jimjams because they are far more wise than I am. Sending you positive vibes for the 'dx journey' xx

My diagnosis story is that it took 2 years and 11 months until I got a firm diagonis for my DD (youngest of 3). They could only diagnose her with global developmental delay but could find no reason. It was only when we were finally referred to a genetics appointment at our local hospital and (luckily for us) two specialists in my DD's condition were working in the room next door. They came in, looked at her, found out a bit about her history and diagnosed Sotos. They then did the testing on her chromosones and we finally received a written confirmation when she was 3 years 3 months.

It was always harder without the diagnosis, not that I wanted to label my child, but if she had a firm diagnosis I found it easier to get the help and support that my DD needed.

What I have also come to accept is that although she has a certain genetic condition, she is still unique and after reading what were (to me) quite sad stories about the condition, I have now realised that she is unique and I shouldn't believe everything I hear and read. Some children do not walk, do not talk, do not get potty trained. My DD is starting mainstream school in September (with a statement, does walk, does talk, is toilet trained during the day).

Unfortunately we can only wait and see what the future holds by waiting for the future to come.

bumblelion - can't believe she's going to school, how time flies

Just wanted to say thanks for posting and if anybody else wants to add anything...