Active discussions

Meet the Other Phone. Protection built in.

Meet the Other Phone.
Protection built in.

Buy now

Please or to access all these features

Talk
Other subjects
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:
morningpaper · 24/03/2006 19:35

Now don't let gomez's talk of Seacadets worry you

gomez · 24/03/2006 19:37

Easy NP - I was BIG in the Cadets Smile.

Original poster
emkana · 24/03/2006 19:39
Grin
OP posts:
MadameDeMars · 24/03/2006 19:43

glad to hear how positive you are feeling. You're in my prayers Smile

lilibet · 24/03/2006 19:45

I don't know anythign about your history or tale, but your posts have really touched me, it's a very lucky baby coming into your life.

Loads of love and good luck to all of you Smile

Original poster
emkana · 24/03/2006 19:49

I had such fears about a having a baby who would never be able to leave hospital, or who would need machines etc. to enable life, or about severe mental retardation (I hope that's an inoffensive way of putting it! If not then please put it down to me being foreign!!! And accept my apologies)

that this diagnosis seems relatively easy to live with in comparison. Even though I'm sure there are many challenges ahead if it turns out to be true.

OP posts:
smellyzebra · 24/03/2006 19:50

what are the extra potential risks or complications, emkana? What does it mean besides being short & funny body build?

Original poster
emkana · 24/03/2006 19:53

I haven't read enough about it yet to be able to say, zebra. Also there seem to be lots of different types. Am feeling too knackered tonight to read up about it in detail, and I might not do it at all until I have a definite diagnosis.

OP posts:
smellyzebra · 24/03/2006 19:54

good luck, emkana, i think i would be feeling exactly the same as you. XXxX

mrsdarcy · 24/03/2006 20:00

Thinking of you Emkana.

SorenDeLorensen · 24/03/2006 20:03

emkana, reading your post made me think of that "going on holiday to Italy but ending up in Holland" piece of writing by a parent of a child with SNs. But I know that lots of the SN Mums on here hate it Smile so I daren't quote the whole thing. I'm glad you are relieved to have a likely diagnosis and in awe at how positive you sound about it - I think it's a gift to be able to look on the bright side in the way you are doing. But I know you still have a long road ahead of you - I hope we can help you a little bit on the way. (((hugs))) to you and yours.

LadySherlockofLGJ · 24/03/2006 20:06

I know a chap with this diagnosis, his parents were told he would never come to anything.Sad

He is, (along with another friend of ours) what we call a GOD partner in their mushrooming legal firm and is married to a tall leggy and I mean leggy blonde who adores him.Grin

jabberwocky · 24/03/2006 20:08

I'm glad it was not one of the other diagnoses that you were concerned about, emkana. If it's any help, many patients with dwarfism are having a procedure done to lengthen the limbs.

thinking of you,
jw

Kelly1978 · 24/03/2006 20:08

Hi emkana,
so glad to hear you have had some positive news and are feeling relieved. Best wishes to you and your family. Smile

bluebear · 24/03/2006 20:11

Emkana - much as everyone else has said, I'm not sure what to say, but glad you are getting clearer information now.

Achondroplasia is not something that I diagnose (I analyse chromosomal syndromes), but just wanted to say that if it can be tested for on amniotic fluid (I would guess a DNA test on the amniocyte cell DNA), and you only had your amnio a few days ago, they could contact the lab and ask them to send some material on to a DNA lab for achondroplasia testing...if you wanted to get more certainty without putting baby at risk by having a second amnio.

Original poster
emkana · 24/03/2006 20:13

The amnio was six weeks ago though, would that still be possible then?

OP posts:
dejags · 24/03/2006 20:13

Emkana,

When will you have the definite diagnosis you referred to in an earlier post?

Original poster
emkana · 24/03/2006 20:13

dejags - if I don't have another amnio then most likely at birth, even though I will have a couple more scans which might make the diagnosis more and more likely, if not 100% certain.

OP posts:
noddyholder · 24/03/2006 20:14

Also have a friend of a friend with this condition who is a very succesful artist in a fab realtionship and living a life to be envied by anyone.I am sending you all good vibes and best wishes xxx

getbakainyourjimjams · 24/03/2006 20:16

well I loathe welcome to Holland, but it can be a comfort :o I think its one of the early threads on the poetry section posted by Davros!

Did the consultant give odds on what he means by most likely outcome? I think it can be helpful to know what you might be dealing with (better than floundering aorund in the dark as you were before) because you can start to seek out people who already dealing with it if you feel like it- or have the phone numbers/email support groups ready to roll if you need them in the future- If it does turn out this way some of those people will become very good friends. I joined online support groups before I knew for sure about ds1 and they were very helpful. In a way getting the dx became a bit like coming a fully paid up member of the club, which was weird, but meant I didn't do it alone.

I do think it is wise not to get too bogged down in the possible details until you know for sure though. How's your dh with it all?

bluebear · 24/03/2006 20:17

Most labs don't store any cultured cells once the requested test has been carried out, but some do store any leftover fluid (ie. uncultured fluid that may still have a few fetal cells in) for a couple of months - just for this sort of eventuality - it's worth asking anyway.

Original poster
emkana · 24/03/2006 20:19

dh has similar feelings to me, relief in a way because we had fears of things far, far worse.

Consultant extremely reluctant to talk about chances/likelihoods/percentages.

He did say today that he has had similar conversations in which the baby turned out to be healthy, but he then added that he didn't want to give us false reassurance.

OP posts:
dejags · 24/03/2006 20:20

That's a long way off, but, as you say, it's not going to change the outcome.

Good advice on these matter, as always, from Jimjams. Have a good sleep tonight.

Smile
Nbg · 24/03/2006 20:25

Lot's of {{{hugs}}} to you emkana.

Smile
getbakainyourjimjams · 24/03/2006 20:26

It's good that your dh is thinking the same way as you- that helps. Have you told your families? Sometimes they can be hard work, if they are try to stay out of it let them do their own chuntering.

\link{http://www.mumsnet.com/Talk?topicid=1950&threadid=35774&stamp=040912211239\here's welcome to Holland} You'll either love it or hate it, but either way it does make a good point.