For anybody who's interested - after six months we finally had the result of the hypochondroplasia test...

[emkana]

... and it's normal.

But this test only "catches" about 70 % of hypochondroplasia cases, so he might still have it.

We are being referred to a different geneticist, one with special interest in skeletal dysplasias. Ho-hum.

So a step forward, but still back to square one.

Well, it's pretty good news!

As you say, at least it's one step forward - and you are being referred to someone with a specialist interest.

I'm sorry I sounded so grumpy in the OP, it is a big step I know and I am pleased!

Thanks dino.

i'm with califrau.... hopefully the different geneticists can find the answer for you.

It sounds very promising from here Emkana! I know you are still worrying though.

Tbh there was a sense of relief because the type of hypo that can be identified with this test is more likely to go along with other difficulties, so it's great that he's more likely to have the other type.

I worry less and less as ds gets older, but it would still be nice to have a diagnosis, to make that look into the crystal ball a bit easier.

glad it's good news, shame it takes so long for you to get more info.

I missed this earlier. I'm glad things are starting to look more positive for you and ds. Hurray!

Aha, found it! Fairly positive generally then? It's so hard when you can't get a definitive answer though.

Yes, positive in a way, but now we don't know anything again really, and while he's doing well etc. I do have these moments where I would like to know what he will be like as an adult...

but I feel more patient and calm and happy about the situation than I ever have. All is good really.

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That's great that you're feeling better about it. I imagine a break from all those chest infections must help with your mental state, apart from anything else. Ds had loads of very bad ones when he was a baby and I was constantly in bits about it even though I didn't have any deeper concerns IYSWIM. It's really not sounding like Jeune's, all in all, is it?

Oh no, and Jeune's has been ruled out, don't know if you know that? People in America were quite clear about that.

I feel very hopeful that his chest will settle down in time.

oh good emkana. That all sounds really positive!

Very pleased for you and for ds. Hope the new geneticist is able to work out what is going on (and that it's good news again).

Glad to hear the news is sounding so positive, emkana.

No, I didn't know it was definite- fantastic Is the new geneticist in London?

I am so pleased for you.

No, Bristol.

Oh good, much handier. They'll probably swoon at how gorgeous he is too

Yes, all health professionals who've seen him have been very complimentary.

Hi there, I wonder how the OP is doing here, so many years later? I a going thorugh something similar and this is one of the few places on the web I have found helpful, similar stories