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Emkana - are you around please?

(10 Posts)
sleepwhenidie Wed 14-Oct-09 20:16:35

Following on from my earlier thread about dysplasia and problems with my baby, I would really appreciate a chat if you have time. TIA!

ChunkyMonkeysMum Wed 14-Oct-09 22:02:04

Hi sleepwhenidie. Emkana started this thread on Monday 12th Oct. Try posting on it so she knows you're trying to get in touch.

emkana Wed 14-Oct-09 22:55:45

Here I am! How can I help?

sleepwhenidie Thu 15-Oct-09 10:37:51

Hi Emkana - sorry I missed you last night. I don't know if you remember my posts about 6 wks ago or saw my response on post re Lyn Chitty, thank you for yours. We had an appointment with her on Monday which wasn't great, we left feeling a bit confused and depressed and I was hoping you could have a chat with me about your experiences whilst pregnant with DS. I apologise for the length of this!

We've gone through so many ups and downs with this baby. After the 20 wk scan which showed baby was very small, followed by amnio, blood tests, achondroplasia test, which were all clear, therefore the main suspect for growth problems was IUGR, which appeared to be severe and early onset so v scary.

At 22 scan baby was still small but evidently growing at a normal rate (though with head and abdomen proportionately larger than arms and legs). Usually with IUGR babies the growth rate deteriorates so this seemed odd - also amniotic fluid was all fine whereas usually there are problems with IUGR babies. Dr(Prof Nicolaides) said maybe the placenta was damaged but had recovered and was now working normally. He recommended further scans at UCH (where I am booked in) rather than at his clinic, which we found quite reassuring as if there were serious concerns I think he would have wanted us back there.

24 wk scan showed more growth at normal rate but Dr was concerned that baby's profile was unusual (frontal bossing), which had been noted at 20 wk scan too, but not mentioned by Prof N. Dr then suggested we have next scan with LC as she is genetics expert and may have some idea of what may be going on that others hadn't thought of.

So, 26 wk scan with LC, still more growth, but arms and legs still lagging behind - no structural defects, hands, feet, chest all normal but profile of forehead abnormal. She couldn't see the face. Her conclusion was that "there is a reasonable chance that the baby may have a skeletal dysplasia" but also "this may yet be constitutional short stature". She now seems to be discounting any IUGR/placental problems earlier on in the pregnancy but I didn't really understand why. As I said in other post, she was having a very bad day and seemed quite dismissive of our questions...

I know that there are so many types of dysplasia and the differences between them are vast. I also understand that she can't diagnose what she can't see, but I would kind of hope for some indication of how severe or mild a case this might be based on what we can confirm - or do you think, based on your experiences and understanding of dysplasias, that am I being unrealistic and even things that appear benign can change and there will be problems later on? Sorry to put you on the spot, we should have a doctor who can tell us this but at the moment we feel a bit at sea!

I am in two minds whether to go back to Prof Nicolaides and also whether to switch consultants at UCH or stick with Lyn Chitty and hope she has more time for us next time and may have the expertise to spot things in later scans that sway her opinion one way or the other. It sounds as if she was more definite with you, but was that later on in pg?

Thanks for listening! Any advice gratefully received.

sleepwhenidie Thu 15-Oct-09 10:39:34

ps - thanks chunkymonkey!

emkana Thu 15-Oct-09 20:48:32

sleepwhenidie, I'm really sorry you're going through this. Unfortunately I don't really know what advice to give you. My experience is, and it is supported by accounts I've read on the net as well as somebody I've met personally, that there is a limit to what ultrasound examinations can tell you, and this seems particularly to be the case when it comes to skeletal dysplasias. I was told my ds had a very dangerous type (Jeune's), turned out to be untrue, he is fine. My friend was told her ds had one which was incompatible with life, he is a cheeky, if very small, two and a half year old now. You can read lots of similar accounts on the net. From what you say it doesn't sound to me that your baby has one of the truly awful types, otherwise there would be clear markers in the shape of the bones and particularly in the shape of the chest. When I was pregnant with ds I ran myself ragged going from doctor to doctor trying to get a definite diagnosis - impossible. And we still don't have one to this day, and he is over three now. I think skeletal dysplasias are very complex and my advice to you would be to find a doctor who you feel comfortable wiht for the remainder of the pregnancy, but don't try to find somebody who will tell you exactly what is going on. Having said that, I know it is very hard, but looking back I wish I hadn't had all those scans, they only made me miserable.

sleepwhenidie Thu 15-Oct-09 21:28:57

Thanks Emkana, I know we aren't going to get a definitive diagnosis but if we can I would like someone to at least narrow the possibilities down so that I don't spend all my time getting very depressed reading all the different, often terrifying dysplasias there are and wondering if there is a chance my baby might have one of them (Google and the internet can be a terrible thing!).

I know what you mean about scans as well, but along with the misery and uncertainty I am gaining some comfort from the fact that the baby is growing...particularly as there remains the possibility that my placenta wasn't working properly for a while so who knows if that might happen again...

Thanks for the advice.

emkana Thu 15-Oct-09 21:33:49

I wish you all the best, please keep me updated if you can. Try to avoid google as much as you can, and remember the really awful ones are incredibly rare, esp as they didn't find anything major on the scans.

sleepwhenidie Thu 15-Oct-09 22:06:08

smile thanks, that is some comfort. A lot of the time I am pretty positive, focusing on the fact that there are no definite markers, but the darker moments are sadsadsad - i am going to try and resist googling. Will keep you posted, 13.5 long weeks to go....

ChunkyMonkeysMum Thu 15-Oct-09 22:40:44

No worries sleepwhenidie, glad to help.X

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