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SN children

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Original poster

Just found out that dd's condition not 'random' as thought and that this baby could have it too...

22 replies

heartinthecountry · 18/01/2006 14:17

Went to see the geneticist at Kings yesterday and was expecting them to tell me that there was no more likelihood of this baby having the same condition as dd as any other baby, as this is what we have always been led to believe (and i have found in my own research). However, I was told yesterday that the 'problem' would have been with my egg. It is possible that this was the only flawed egg or it is possible that I have more affected eggs. That means there is a very real chance that this baby may have the same condition. Not a high chance but a real one.

There is only one known incidence of recurrence in the same family, this is out of about 800 cases of the condition known worldwide. Which doesn't give a great statistical chance. But then to be honest the sample pool is so small it is almost meaningless. Also tbh when your dd has a condition that she had about a 1 in 4 million chance of having you kind of lose faith in statistics.

If this baby does have the same condition as dd there are some quite obvious brain abnormalities that they should be able to pick up on a scan at about 21 weeks. I do at least feel that we are in the best possible hands at Kings. They have said that if there is anything they are at all unsure about then I can have an in-utero MRI scan.

I am scared though. I wasn't really until now. I had vague worries about this baby having SN, which I think is only natural. But now it seems very real that this baby could have the same condition as dd and tbh I would find that very very hard to deal with.

I know that there is nothing I can do and I just have to wait for the scan and hopefully everything will be fine. It has been a bit of a shock though.

OP posts:

Aloha · 18/01/2006 14:26

Oh, how frightening for you. But the chances to me, on the outside, sound vanishingly tiny - and let's face it, we all stand a chance of having something go pretty catastrophically wrong with our children. There is no risk free way of making babies. I can understand your being on tenterhooks until you see the scan though and I really do wish you well.

serenity · 18/01/2006 14:52

I've caught a couple of old episodes of Life before Birth which was filmed at Kings, following some of Kipros Nicolades patients (is that who you will see?) All I can say is at least you will be in good hands as they all seem like genuinely good people there. All I can say is that my thoughts and best wishes are with you, and I hope everything goes well on the scan.

merlot · 18/01/2006 15:53

Hi HITC

Firstly, CONGRATULATIONS!!
I obviously missed the news that you were pregant.

Sorry about this latest news though However, the odds do appear to be small dont they and I am sure you are in the very best hands at Kings.

merlot · 18/01/2006 15:55

Hi HITC

Firstly, CONGRATULATIONS!!
I obviously missed the news that you were pregant.

Sorry about this latest news though However, I am sure you are in the very best hands at Kings. I send you lots of love and wish you all the very best.

JakB · 18/01/2006 17:39

Oh HITC, sorry to hear about this, that is so stressful for you and your family. Sending lots of love and hugs and a big congratulations on baby number 2x

coppertop · 18/01/2006 17:43

So sorry to hear that you have this extra worry, HITC. Hopefully the scan will be able to give you some reassurance. In the meantime we're all here if you need to talk. xxx

Original poster

heartinthecountry · 18/01/2006 19:34

Thanks everyone. I know the odds really are small its just they are not quite as small as I thought they were IYSWIM. Whatever the statistics I know I won't really be able to relax until I have the scan and they can see if the same abnormalities are there, but it is nice to have your words of reassurance or just to be able to 'talk' about it.

I think tbh I am also finding it a little bit difficult in terms of how I think about dd. Up until now part of my coping mechanism has been 'this just happened, its nothing to do with me or dh and it is just how she is supposed to be'. But now I've found out it is to do with me. Its not that I feel it is my fault, and I know I couldn't have done anything about it, but it still feels more personal.

OP posts:

chonky · 18/01/2006 19:56

Oh HITC, I'm sorry you've got all of this worry. I really don't know what to say except that I do have an idea of where you're coming from (we'd be in the same situation with a future pregnancy). I do agree with Aloha though, life is full of risks and sometimes we just need to have faith that it'll all be OK.
Wishing you lots of love and strength x

tamum · 18/01/2006 20:02

HITC, I'm really sorry you have this worry, although as others have said, the chances are still very good that your baby will be in the clear. I wonder, why, they were saying that it might have been your egg and not your dh's sperm? I don't suppose it really matters either way, it just seems that you are blaming yourself

Original poster

heartinthecountry · 18/01/2006 20:24

I kind of wondered that too tamum - but the geneticist seemed quite clear and tbh I was a bit too surprised to question it. I know they are doing more research into the condition in the US so maybe they have come up with something? The condition only affects girls (although actually there is one boy who is XXY) would that make a difference?

Thanks too chonky.

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dizzy34 · 18/01/2006 20:30

Hi HITC

what condition does your dd have? you must be so worried. From what you said i assume you are going to have all the tests? i would as well. My ds was only the 14th recorded case in the world with his condition so i know what you mean about statistics. apparently, it was more likely that we would have won the lottery twice!!
hope everything goes well for you and that you can find some peace and enjoy your pregnancy

eidsvold · 18/01/2006 20:47

hitc - how worrying for you. You are in fab hands at kings - we had our fetal cardiac scans there when I was pregnant with dd1 and the staff were great.

We sort of faced something similar when I was pregnant with dd2 - they picked up a soft marker for Down syndrome - what a shock. Even though dd1 has bog standard trisomy 21 ( can happen to anyone) this soft marker made me wonder. Finding that marker increased my risk of having another child four fold. eg if it was 1 in 100 it became 4 in 100. Even though the anomaly scan showed up nothing else.. and we were reassured that this was quite a common thing to find in babies on an anomaly scan - we still were concerned. Whilst we weren't afraid of having another child with down syndrome - after all we knew what to expect. I wondered how we would cope with two children with special needs. Also made me wonder if there was something wrong with me..... We were stunned after the scan.

I can still remember asking dh in recovery after the c-section - could he see any physical markers for down syndrome, we checked her hands, feet etc. Then figured as no one had said anything - all was fine and I could get on with feeding and bonding with dd2. Feel sad that I worried. But the niggle was there from 20 weeks on.

Sorry for the ramble.

getbakainyourjimjams · 18/01/2006 20:50

Is it a mitochondrial condition HITC? That could explain why the geneticist was sure it was your egg.

How worrying for you. How long do you have to wait for the scan?? ((((hugs)))))

tamum · 18/01/2006 21:03

I think you just have to keep the 1/800 chance in your mind really HITC. I know it's a shock, but they don't have any reason to think you have a mutation that you are carrying like that (given that you don't have the condition). Do you have long to wait for the scan?

doormat · 18/01/2006 21:34

hitc
I was told by the genticist when I was 7 months pg with ds3 that there was a 1 in 5 chance that ds3 would be born with same condition as ds2.
His words to me were when he seen my bump
"if I knew you were pg I would of advised an abortion"
Even though ds2 has no diagnosis and genetics came back nothing wrong.
I was horrified by his comment and was scared too but I thought about it and just thought that if ds3 was born with same condition I would love him all the same.
Ds3 was born with no probs.
But can understand how you are feeling.
hugs
xxx

Milge · 18/01/2006 21:40

hi hitc- I would have the same dilemma, luckily I had two in one go - however, the medics are stumpted as to why dd is SN, and her twin brother is NT- they have all said it is one billion etc to one that he is ok - so I say bah humbug to statistics and lies. You are in good hands in Kings and will get the best possible advice.

Original poster

heartinthecountry · 18/01/2006 21:41

Dizzy - my dd has Aicardi Syndrome. Not quite as rare as your ds but rare enough!

baka - don't know if it is mitochondrial - I have never read that (not that I know what it means!) but the geneticist did seem pretty clear that it was my egg. As I said, maybe there is some more research I haven't seen.

I can't have the scan for nearly 2 months as they need to wait until I am 21 weeks before they can be sure of seeing the abnormalities (absence of the corpus collosum is the most obvious). It seems a long way away.

Everyone is right though - I do feel in safe hands at Kings. They did my 12 week scan and were so thorough. They checked and rechecked everything (and gave me lots of pics!) At least I feel sure that if there is something there that can be seen, then it will be.

Thank you for all your thoughts (and hugs )

OP posts:

Original poster

heartinthecountry · 18/01/2006 21:46

Have just googled 'mitochondrial'. Aicardi Syndrome doesn't appear to be on any of the lists of conditions that are, but I noticed that Retts is and the geneticist did compare dd's syndrome to Retts as it only affects girls. Maybe that's where she was coming from.

Anyway, I have decided to tell myself that at the end of the day they still know so little about dd's syndrome that no-one really knows what the chances are of a recurrence. I am holding on to the fact that I know many families who have a girl with Aicardi's and other perfectly NT children.

OP posts:

Blu · 18/01/2006 21:52

Statistics just don't mean anything in relation to an emotional lucrch, though, do they? Any tiny miniscule speck of a risk is something quite different in your reactions.
Even though the risk is so tiny, the long wait for the scan will be hard, which just doesn't seem fair.

Original poster

heartinthecountry · 18/01/2006 22:04

Blu - you are so right. It's possible, however unlikely, and that is the only thing really that will stay in my head until I know otherwise.

OP posts:

Caroline5 · 19/01/2006 21:35

Did not know you were pregnant, so congratulations and hope you are feeling well - so sorry you are having to go through all this worry and stress. The risk is small but it must make it so hard to relax during your pregnancy and with the long wait to your scan. Wishing you some peace of mind for the next few weeks x

Davros · 19/01/2006 22:16

HITC, I'm just catching up properly on MN (not just products and Tellyaddicts, but SN too!). I'm so, so sorry to read this. Its heartbreaking and, as Blu says, statistics don't help, you'll still worry. Looking forward to seeing you next week, if you still feel up to it.

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