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Old Aug 9th, 2010, 02:24 AM   1
maroon
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balanced translocation


Hi All
Have posted this on a couple of other boards and also have spoken witha couple of lovely ladies on here. I have had 4 mcs (no children yet) over the last 2 years. I had a septate uterus (divide down the middle) which has now been surgically corrected.
However I have also been diagnosed with a chromosome balanced translocation (double whammy!). This means I 2 parts of 2 chromosomes have swapped places (this could have been inherited from my mum or dad - is likely). So I have a 50% chance of mc with each pregnancy. I seem to get pregnant quickly (so far) but knowing I have this is very difficult to get my head round.
If anyone is in a similar position that I havent spoken to I would love to hear from you!
X



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Old Aug 9th, 2010, 08:20 AM   2
Tatertot
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Hello.

I haven't had any miscarriages; however, I gave birth to a baby who had an unbalanced translocation as a result of my husband's balanced translocation. My baby only lived two weeks. We found out about my husband's diagnosis after the baby's death. Our risk of miscarriage is 30% and risk of a chromosomal issue is 13%-26% each time. There are some scary decisions we're going to have to make.

Depending on where the translocations are (which chromosomes) will determine the severity of the medical issues for the baby. A good website is the Unique website. Google rare chromosome abnormalities to find it.



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Old Aug 9th, 2010, 08:55 AM   3
maroon
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Hi Tatertot
Thanks for your comment. Im so sorry for your loss - what an awful time for you.
I have been told i have a less than 1% chance of carrying an unbalanced / disabled baby and it is way way more likely I will miscarry which is what is seeming to be happening each time.
Yes Ive joined Unique thanks - they have been really helpful.
Have you considered PGD or are you trying naturally and then getting cvs / amnio tests done?
Wish you all the best of luck for your next pregnancy.
xx



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Old Aug 9th, 2010, 13:38 PM   4
Tatertot
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PGD is so expensive and not covered by insurance so that's out. I think. CVS testing is going to happen and then we'll make a decision. If we waited until I could have an amnio, it would be too late if we needed to terminate. (I feel awful saying that) We're discussing trying again and are both willing to do it, but we need to have a plan in place if the baby has abnormalities. As hard as it would be to terminate, it would be unfair to everyone involved to give birth to a baby who would live only a few weeks and suffer. The death of my baby is the hardest thing I've ever had to go through, but at the same time, there were some positives about it. Good luck to you too!



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Old Aug 9th, 2010, 14:43 PM   5
Lottie86
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Hello,

I don't have any experience of balanced translocations but wanted to send you some (I have had several mc all almost certainly due to chromo issues and have 1 child with a very rare chromo abnormality)

I'd agree with Tatertot that it is a very good idea to have a serious think through and have a plan in place in case cvs/amnio show a problem up in a future pregnancy. I'm still having that ponder about what I would do (as we didn't know with Findlay) but as much as I adore Findlay I don't think I could put another child through what he has been through and goes through and the thought of having 2 children like Findlay would be heartbreaking.

Wishing you the very best of luck and positive thoughts for the future.



Mummy to Findlay born at 35 weeks by emergency c-section due to placental abruption
My very brave and special boy has a very rare chromosome abnormality (we only know of
one other living person with it, who is in the USA) and he is now 15 months old

http://fundraisingforfindlay.webs.com/
Fundraising For Findlay on Facebook: http://www.facebook.com/#!/group.php...32716496744058




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Old Aug 10th, 2010, 15:52 PM   6
maroon
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Hi
Thanks to you both for sharing your experiences.
I understand how difficult it must be to decide to terminate a baby that is wanted so so much.
I am looking into PGD and going to ask my genetic counsellor to refer me to Guys hospital in London. I live in UK and Guys have said they can apply for funding on my behalf. It normally would cost 8000 a time but hopefully I will get at least one go on the nhs. Otherwise we will just keep on trying til we hit the jackpot.
Thanks again
x



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Old Aug 10th, 2010, 16:50 PM   7
ljo1984
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i am so sorry for your loss, i just saw the title and had to reply, although i havnt got any experience from your point of view, grace the baby i lost last year had gentic testing and they found she had a balanced translocation of 11 and 17, but couldnt say that caused her heart to stop beating as she should have been born otherwise healthy like yourself but they said it can sometimes cut through an important gene so could be that (id like to think there was an actual reason and not just something that happened). we were both clear when our blood was tested.
so obviously ive read up on it and am aware of the high risk of MC and babies having an unbalanced translocations when concieved and it breaks my heart. i really hope you get your longed for baby very soon, i'll have a word with Grace and ask her to watch over you and send you loads of baby dust. xxxx



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Old Apr 23rd, 2011, 15:55 PM   8
brillbride
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hi maroon, im same as u- have a translocation on 8 and 11, we are told to try naturally or ICSI with PGD = 10,000 grand...
Hope u r keeping well.x



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Old Apr 25th, 2011, 14:58 PM   9
padbrat
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I am like Brill...

I have a translocated chromosme... 1 of my X had a bit snapped off and a bit of inert Y had joined on it.

This means I am high risk of M/C or a severly disabled baby if it is male.

I have lost all 5 of my babies. This last one is being tested.

I had an appt with a geneticist from Guys about PGD and was told I was too old to help, despite us TTC for 8 years and the UK failing to discover a severly underactive thyroid that the Germans discovered and medicated me for and bang on 6 months later I was pregnant....

I blame the UK system for failing me.... for leaving me with no help for all this time.

My current specialist is the only one that has ever medicated me when I am pregnant and the only one that has given a damn.

She suspects I have NK cells as well.... the tests on the baby will confirm this.



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Old Apr 25th, 2011, 15:11 PM   10
brillbride
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hi padbrat--I so feel your pain--8 yrs is along time, I am in N.Ireland (UK) and I also feel let down by the system, after our 2nd MC we went for private tests.....but was chromosome offered?? O NO.........had to travel to London and pay tonnes a money to be told I have a chromosome problem....the health system sucks

xxx



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