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Original poster

so scared after scan!

89 replies

ooops33 · 19/12/2007 10:50

hi there, im new here and wondered if anyone had any experience of this before.
i went for my 12 week dating scan a couple of weeks ago, and was told my baby was very ill and i should consider terminating the pregnancy! the baby had fluid over the abdomen head and neck, i was sent to the quiet room which was horrendous waiting for the nurse to come and talk to me, she explained the unlikely hood of my baby surviving but told me i must see the specialist in a weeks time,
i cried solidly for that week! then when the specialist scanned me she said the fliud had gone and baby looked normal, she had the previous scan on the other monitor and said it was like looking at 2 different babies!!
however she advised me to have a cvs to check for chromosomes which i had done last week and so far the results are looking good,
i feel so confused!! did my baby recover ? or is there still something wrong but they cant find it??
why did the fluid go and why was it there to start with!
i have to wait now for the 20 week scan but im so worried please has anyone heard of anything like this before??

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PeachyHasAFiggyPudInTheOven · 30/12/2007 18:37

See if yu can find Yurt or Tamum, see if you can get a non-biased picture eprhaps (Yurts speciality as you know is ASD but she's done a fair bit of reading on chromosomal conditions as well).

needmorecoffee · 30/12/2007 18:45

Are you getting to see a genetic specialist? Freind of mine has a little girl with partial trisomy of Chrom 14 and she was told it was incompatible with life/mental retardation, all sorts of stuff. She's had some seizures but is now 3 and fine.
You really need an expert who knows.
Good luck.

poppy34 · 30/12/2007 18:47

both needsmorecoffee/percy are making good points but sounds like that may be something you are going to get to discuss tomorrow at your meeting. How are you feeling before tomorrow ? x

Original poster
ooops33 · 30/12/2007 21:47

well ive written down lots of questions so i dont forget and i will ask to be refered to a genetic counseler so they can tell me exactly the prognosis, problem is the specialist said its so rare they cant say its like asking how longs a piece of string!
thankyou for all your support ill let u know when i get back from the hosp what theyve said, and i hope ill be nearer a decision

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Millarkie · 30/12/2007 21:57

There is a charity called 'Unique' whose members have children with rare chromosome disorders. Most unbalanced translocations are very rare but there may be a 'Unique' member who has a child with a similar chromosome imbalance. Their website is www.rarechromo.org.

poppy34 · 31/12/2007 17:25

how'd it go oops ? have been thinking of you

Original poster
ooops33 · 01/01/2008 18:00

hi poppy,
the specialist i saw was crap! she couldnt give me any real info every question i asked she said we dont know its too rare! she refused to give me the number for the genetics specialst and said they had told her everyting they knew so there was no point, she then rushed of cos her beeper went of and left me with a nurse in that wonderful quiet room again!
anyway when i got home i was so angry i phoned the exeter hosp (where the genetics expert is) and after a lot of chasing i finally got to talk to her! she was lovely she explained as much as she could that the outcome would likely be mental problems which she said could vary from mild to severe she also said there was an added piece of chromosome and they didnt know where it came from which meant there would be other problems but cos they dont know which chromosome they dont know which will be affected!
i was really annoyed because when the specialst ran off i asked the nurse to photocopy my cvs report so i could read it she said ok but wasnt supposed to! when i read it at the bottom it said urgently require maternal blood to test if mother is carrying gene! they never told me that so i insisted that they do my blood to check, it turns out after talking to the nice woman at exeter that by testing my blood (if im the carrier) they can find out where that odd bit of chromosome has come from!! something the hosp forgot to say!!!! which would give them more info on what the outcome will be for my baby, she also informed me that my two autistic children may not be autistic they may have this chromosome problem too!
i have to wait 10 days to find out if i have this, i doint know how ill live with my self if ive given this to my children i feel so awful

OP posts:
snooks · 01/01/2008 18:12

Ooops, this is all way over my head (have no experience) but I just wanted to say how sorry I am that you're in this hellish, frustrating turmoil. Thinking of you xxx

poppy34 · 01/01/2008 18:15

oops- big hugs for you.. I'm so sorry you had to find out such news in such a bad way. You probably need more info on this to find out if you're carrying this chromosome. Are they absolutely sure its a inherited thing not a mutation? Did they say why they only asked to test maternal blood not paternal - that just sounds a bit weird as surely it could be either (or neither of you) it its a chromosome defect.

Also it must be dreadful to feel as you do thinking that you have passed something onto your other dc - but was this something the genetics specialist thought was likely or just an aside? I only ask as I know how easy it is to tear yourself up with guilt/fear/anger when you're going through this about anything.

I know its easy to say but try to think of all the wonderful thingsyou have also passed onto your DC. You've not done anything wrong so please try not to dwell on this side of things so much (I'm typing this knowing how hard that is to do - dh has 2 children already so when I was waiting on results of post mortem I felt that if there was anything genetic it was my fault)

poppy34 · 01/01/2008 18:16

btw is tamum around at all? I am pretty sure she knows about this kind of thing so might be more knowing help

FlllightAttendant · 01/01/2008 18:22

Big, big hugs to you Ooops. I am so sorry you are going through such a tough time. We are here and listening xxx

needmorecoffee · 01/01/2008 18:24

sorry you didn't get all your answers Oops. Don't blame yourself, its not your fault.
Hope you get some decent answers soon. Must be so worrying and fustrating.

denbury · 01/01/2008 18:26

wright all your questions down on a piece of paper and take it with you. make sure you write the answers down to. good luck and speak to your midwife and doctor soon

Original poster
ooops33 · 01/01/2008 18:29

thanks for your support girls, she said because the translocation is unbalanced theres a 90% chance its come from one of us, she wants to test me first as im the likely candidate and given the fact my two kids have problems its bound to be me!
she also wanted to test my daughter but i said no as it would upset her, my parner is not the father to my two kids only this one, god i can imagine what hes thinking he must hate me!
and all this time my babes were diagnosed with autsim!

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hatrick · 01/01/2008 18:30

This reply has been deleted

Message withdrawn

denbury · 01/01/2008 18:34

so sorry i wrote mine before i read all the rest. my heart goes out to you all.

needmorecoffee · 01/01/2008 18:35

I doubt he hates you, anymore than my DH blames me for having a brain damaged child.

poppy34 · 01/01/2008 18:37

needs more coffee is right - I cannot imagine he would think that - probably as worried/scared about all this and esp how you are (I know dh found it terribly hard knowing I had to deal with carrying baby etc).

Original poster
ooops33 · 01/01/2008 21:20

thanks again everyone it really helps to talk to you guys my partner wont talk about this at all when i ask his opinions if he wants me to keep the baby he says i dont know!
ill let you all know what happens when i get the results, at the moment i feel so down i feel like i should end this pregnancy rather than bringing in another child with problems!

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Pixiefish · 01/01/2008 21:26

oops- so sorry you're faCIng all this.
Also please don't blame yourself- it's no one's fault xx

whomovedmychocolate · 01/01/2008 21:32

Ooops - if you carry a gene, you carry it. It's not a fault it's part of who you are. I have a rare genetic thing that makes my blood runny. DD probably has it too but they can't tell yet. But because I know she'll be prepared and won't have to go through many years of hellish bleeding before she finds out.

Don't make decisions based on guilt. Make them on informed reasons. And don't give up, keep pushing to get answers. You have a right to decent care and information.

Millarkie · 01/01/2008 21:47

Hi ooops - so sorry that you are going through this and that the specialist was so awful.

I don't know how much the genetics expert told you about chromosome translocations and how they get inherited but wanted to say that there is normally at least 2 types of imbalance possible for each translocation. eg. if you or your dp are a 'carrier' with no imbalance then this baby may have one of the types of 'unbalanced' form' and your other children may have either the same or the other type (or their autism may have nothing to do with it, and they may be balanced or not have the translocation at all). If it turns out that you or dp carries the translocation then you may want to consider having your children tested to see if they match the baby - then you could expect a baby who is similar to their siblings.

Sorry if this is complicated - just trying to explain why genetics expert probably asked to test your daughter. I am surprised that they haven't asked to test your dp though.
(I work in chromosome genetics by the way, but not a councillor/clinician).

Original poster
ooops33 · 02/01/2008 11:11

thanks millarkie for explaining, they geneticist did say there was another part but they cant find out where its come from unless they find it in my or my partners blood, which is why i have to wait now, it seems to much of a coincidence that my kids have autism that has nothing to do with this gene im sure they have it also.
but even if the baby would be similiar to them there are no guarantees, the geneticist said each child is affected differently and also this one has a different father, so the affects could be worst my first born is more mildly autistic but my second my daughter is affected a lot more, shes 7 and non verbal and still not toilet trained, what if this baby is affected worse?

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Millarkie · 14/01/2008 18:24

Any news oops? Thoughts are with you.

Original poster
ooops33 · 17/01/2008 20:42

hi,
im sorry i havent written im totally heartbroken we had the results back neither me or my partner carry the gene, but through further testing which could have been done at the first genetic test, they discovered the whole story it was a inversion of a chromosome the outcome was total retardation with all sorts of phisical dissabilities,
i ended the pregnancy on sunday i gave birth to my daughter we named her evie and i saw her and kissed her after.
if she had been born she would have suffered i couldnt put her through that.
im dead inside i cant stop crying, breathing hurts, i cant do anything without breaking down.
i dont think ill ever get past this.
i want my baby back so badly i just dont want this pain.

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