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Original poster

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

90 replies

emkana · 24/03/2006 19:04

... 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.

OP posts:
Original poster
emkana · 24/03/2006 20:28

Thanks for finding that for me.

Brought tears to my eyes then. Sad
Why do some people hate it?

OP posts:
ghosty · 24/03/2006 20:29

Hi emkana ...
I watched an inspiring program on NZ tv this week about a guy with achondroplosia. He was fantastic ... just a normal bloke who happened to be small (he hates the term 'Dwarf'). He is a well known comedian in NZ (very very funny man) and is a successful businessman, running a casting agency.

Like others posting on here I felt relieved at your OP after reading all your other worries on other posts .... Smile

RTKangaMummy · 24/03/2006 20:33

There is a family in our town, the dad has achondroplosia but the wife and children don't

hoxtonchick · 24/03/2006 20:35

you sound really together, emkana. xxx

getbakainyourjimjams · 24/03/2006 20:35

because we're cynical old beasts :o I think I may have liked it once..... :)

Hazellnut · 24/03/2006 20:42

Am glad that you have some sort of answers and that you sound positive.

There was a column written in one of the saturday papers a year or so ago (time possibly) detailing the journalist's pregnancy and, the last I heard of it, she was facing this possibility but was very positive and it was a lovely column. I don't know what happened in the end (so may be completely irrelevant), or who wrote it but, it would be worth reading if anyone knows more about it.

Northerner · 24/03/2006 20:55

Hi there. Not posted before but have been following your story.

Just wanted to say that a good friend of mine has a daughter with achondroplasia, she is 3 and adorable. They didn't know untill she was born so it was a real shock for them, but it's just how she is now and everyone loves her.

Original poster
emkana · 24/03/2006 21:06

It's lovely to read so many positive stories about people with achondroplosia here.

OP posts:
ScummyMummy · 24/03/2006 21:09

Glad news is better, emkana. I have met a couple of kids with a type of achondroplasia. They both had FAR fewer problems than lots of other kids I've met with special needs, tbh. Good luck with the getting your head round it part.

milge · 24/03/2006 21:19

I remember seeing a programme on Channel 4 about SN children - \link{http://www.channel4.com/health/microsites/D/different/series.html\borntobedifferent} and there is a little lad with achondroplasia on it. Absolutely bright as a button, just with short arms and legs. I loved the Holland poem and it really helped me accept dd. It might be a little twee, but really helped me. Thinking of you.

Original poster
emkana · 24/03/2006 21:23

I saw that programme, was one of the first things that came into my head when we were speaking to the consultant today.

OP posts:
spidermama · 24/03/2006 21:32

I'm loving the Holland thing too. Feeling sad davros got no replies or comments on it and yet here it is being linked two years later.

frogs · 24/03/2006 21:38

emkana, ich drück Dir die Daumen.

FWIW I taught a student with achondroplasia on one of our undergraduate degree courses a little while ago. She was a great character, was very popular with the other students and one of our academic high-flyers.

As for that little Hamish on Born to be Different -- what can I say? I'd steal him any day of the week.

sunchowder · 24/03/2006 22:01

Emkana, I haven't posted before, but I wanted to let you know that I am sending my good thoughts to you for peace around whatever the outcome will be. So many nice posts here for you, I hope that your spirits will be uplifted from the lovely Mums out here that care so much for you. All the best.

DormirProfondement · 24/03/2006 22:15

Emkana!! You can handle this, I promise you you are tough enough to handle this :) I knew someone with this condition at school! She was accepted quickly, was popular, had boyfriends...

Thank god it doesn't appear to be life threatening oh Grin

You can do this!

(Fastasleep en francais)

Ledodgy · 24/03/2006 22:16

Emkana i've been following your threads. I'm sorry you're having to go through all this uncertainty I just want to send you my love.

lanismum · 24/03/2006 22:30

iv been following youe threads, just wanted to say that i used to work in a growth clinic, and many of the (child) patients had achondroplasia, they were exactly the same as any other child their age, the babies managed to get into everything! i also went to school with a girl with achondroplasia, she was always very popular, and is now about 28ish with 4 kids! this may or may not be of comfort to you, i know you must still be very worried/upset, so sorry if my post isnt what you want to hear.

Miaou · 24/03/2006 22:42

Emkana, been following your story - what a lot you have had to take in over the past few weeks! Achondroplosia is one of those things which, as has already been said, can make little difference to the life they would have led otherwise. A better scenario than the possible ones you were facing before.

I wish you all the best for the rest of your pregnancy and beyond Smile

Marina · 24/03/2006 22:46

I was thinking of Hamish too, and Tom (is it?) Shakespeare, academic and spokesperson for disabled rights, both examples of people in the public eye leading busy, happy lives with achondroplasia. Thinking of you lots emkana as you get your head round this news. I too logged on tonight to see if there was any word from you.

Saggarmakersbottomknocker · 24/03/2006 22:56

Emkana - glad that things are a little more positive for you.

I also know of a chap with short stature. He's a volunteer with the charity I work for - celebrated his 70th birthday last year Smile

getbakainyourjimjams · 24/03/2006 22:57

Davros won't mind about the Holland poem spidermama she hates it :o

getbakainyourjimjams · 24/03/2006 23:05

ah I'm feeling mean about being so negative about the Holland poem- perhaps it just doesn't fit severe autism very well. Davros posted it originally because she knows that some people find it helpful. And it does have a good message I think.

I'm glad you're getting some answers Emkana, and whilst they may not be what you would have wished for I do think answers in themselves help. Even if they're still prefaced with maybes. I guess the worst case scenaio has got a whole lot better.

SorenDeLorensen · 24/03/2006 23:25

Thanks for posting it, jimjams Smile

claire7676 · 25/03/2006 00:22

Hi, haven't seen ure previous threads but wanted to say that a friend of mine has dwarfism and gave birth to twins no less a couple of months ago. No, life hasn't always been easy for her, but it certainly is full!! Good luck!

Clary · 25/03/2006 00:36

emkana, just seen this, I am glad you are feeling so positive.
Some good stories on here to give you hope for the future too.
I have nothing constructive to offer beyond my very best wishes and prayers for you.
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