emkana had another scan today - they now think it's most likely...

[emkana]

... achondroplosia (dwarfism).

The findings were still the same, but with the addition that the growth of the bones has now tailed off, ie they haven't grown as much as they should have since the last scan and so are even more out of proportion than last time.

The head, on the other hand, is quite large. So this fits in with possible achondroplasia.

Consultant said he can't be certain but thinks this is most likely outcome. We were offered another amnio to confirm, but declined - wouldn't want to take the risk of premature labour now. It wouldn't change anything anyway.

To be fair, compared to all the nightmare visions I have had over the last few weeks this diagnosis comes as something of a relief.

But I still need to get my head around it really.

Thanks to all of you who are taking an interest.

And foundintranslation- if you read this, I'm sorry I haven't responded to your lovely e/mail. I'm so crap at the moment, I just haven't got the energy for anything other than the absolute necessities, ie mainly the children. I am very sorry.

Gosh emkana. I honestly don't know what to say- far, far better than the ideas they were throwing out before, but quite a hard road ahead. I am glad you are feeling relieved, though.

Well Emkana, tbh that is a relief. I have a very close friend who is achondroplasic and he has a very full and happy life. I wish you strenght.

Don't really know what to say, other than I'm thinking about you and hope you get through this. I don't know anything about achondroplosia so don't really know what the effects on the baby will be.

:(

emkana, I'm really sorry to hear this. You sound positive about it though. Just take your time, as you said, to get used to it.

Thinking of you x

carmenere, that's lovely to read.

Hey, it's OK :) (this is me btw, just my French name)
Get in touch anytime if you want to have a chat.

I don't know what to say, other than that I'm thinking of you, and best wishes to you and your family.

(me as in foundintranslation, sorry!)

D'accord et merci beaucoup!

did the consultant give any indications as to why the ventricles are enlarged? is that a feature of achondroplosia, or is it caused by something else?

:(
Sorry to hear about the possible diagnosis. I wish you strength. (It sounds like you already have plenty of love for the baby.)

Yes, apparently the fluid on the brain often goes along with the condition, sometimes to the extent that it turns into hydrocephalus.

emkana, hope you are ok. I too know someone with this condition - he's 34 and has a great life and lots of girlfriends.

xxx

it must be a relief to have a kind of diagnosis, something to read up on and prepare for.

Wishing you strength & sending ((((hugs)))) to you

Good to hear that you have relief and as Carmenere said a very full and happy life possible like for every person.

Thinking of you Emkana! Although I am sure you have much soul-searching and thinking to do to reconcile yourself to another possible option you do sound resolute in your acceptance of your growing baby, no matter what the outcome and that can only be a good thing .

Carry on giving us updates - I opened your thread straight away when I logged in tonight and was pleased to see that it's not all bad news.

At the MRI scan by the way they didn't even find the ventricles particularly prominent, but the consultant disagrees with that.

I have no idea which is more trustworthy, MRI or ultrasound. And it doesn't make much difference now anyway because the shortening of the limbs is becoming more and more pronounced.

Another thing I read on the internet about this condition is that pregnant women find there is less fetal movement, and this is definitely something I've noticed with this baby.

I'm glad you're relieved emkana. There are many, many worse things of course. Is this in your family at all?

I didn't know the correct term previously but I have two really cool achondroplosiacs (grown men) as neighbours. That's the full limit of my experience though, and I know it's ridiculously insignificant, perhaps even glib, but it is positive.

emkana haven't been following your posts but I've also known a boy with this and he was hard as nails and perfectly capable of holding his own :)

Emkana - I hope this news gives you some sort of direction to follow with all of your decision making {{{{{}}}}}} Best Wishes to you and your family

Emkana - you sound so resolute, positive and brave. I feel quite in awe TBH.

I knew a boy when I was in my teen (at the Sea Cadets with achondroplosia and he was very active and very much accepted by 'The Gang'.

Take care.

Emkana, I have't been on your other threads so don't know what you've been going through, but it sounds though the last few weeks have been hell.
I am glad this new diagnosis comes as a relief for you, and as others have said, hopeful and positive.
I wish you, your baby and your family all the very best.

emkana, sorry it's not all plain sailing...
I know a little girl with achondroplasia, she's cute as button and apart from being smaller no different from other 4 year olds - just as cheeky and lively.
I'm sure this baby of yours will be lovely. :)