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Here are some suggested organisations that offer expert advice on SN.

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

(24 Posts)
emkana Wed 27-Jun-07 19:27:25

... 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.

Mercy Wed 27-Jun-07 19:32:12

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.

Califrau Wed 27-Jun-07 19:35:52

Message withdrawn at poster's request.

emkana Wed 27-Jun-07 19:41:38

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

Dinosaur Wed 27-Jun-07 21:20:43

I'm pleased for you, emkana!

emkana Wed 27-Jun-07 23:37:05

Thanks dino.

eidsvold Wed 27-Jun-07 23:49:15

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

Aloha Wed 27-Jun-07 23:50:35

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

emkana Wed 27-Jun-07 23:53:11

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.

mummytosteven Wed 27-Jun-07 23:56:26

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

coppertop Thu 28-Jun-07 22:51:28

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

Tamum Thu 28-Jun-07 22:53:02

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

emkana Thu 28-Jun-07 22:55:17

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.

essbeehindyou Thu 28-Jun-07 22:57:50

Message withdrawn

Tamum Thu 28-Jun-07 22:58:09

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?

emkana Thu 28-Jun-07 22:59:11

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.

foxinsocks Thu 28-Jun-07 23:00:02

oh good emkana. That all sounds really positive!

edam Thu 28-Jun-07 23:00:04

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).

Pinkchampagne Thu 28-Jun-07 23:00:28

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

Tamum Thu 28-Jun-07 23:01:54

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

motherinferior Thu 28-Jun-07 23:02:38

I am so pleased for you.

emkana Thu 28-Jun-07 23:04:53

No, Bristol.

Tamum Thu 28-Jun-07 23:06:15

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

emkana Thu 28-Jun-07 23:06:47

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

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