# balanced translocation



## maroon

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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## Tatertot

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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## maroon

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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## Tatertot

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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## Lottie86

Hello,

I don't have any experience of balanced translocations but wanted to send you some :hugs: (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
https://fundraisingforfindlay.webs.com/
Fundraising For Findlay on Facebook: https://www.facebook.com/#!/group.php?gid=132716496744058​*
https://i142.photobucket.com/albums/r114/ktstu/KT%20Emoticons/Blinkies/boy-tube.gif​


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## maroon

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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## ljo1984

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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## brillbride

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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## padbrat

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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## brillbride

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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## Daffodil11

Hello, I followed your thread. History: our little one has unbalanced chromosome translocation. Problems were picked up in neonatal after uneventful pregnancy and we had DNA results at week 2. Reproduction dilemma followed... Waited over 2 years for news of funding from our PCT following recommendation from Genetics consortium. Just had a 2nd failed ET following a miscarriage earlier in year after PGD @ Guys. Hugs & sympathy...


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## padbrat

Hey Daffodil... even with a translocation in my X that is proven to cause my M/C's and possibly all 6 of them, with no surviving children I still can't get any help or funding from the NHS. Even though both Genetics and Gyni recommend PGD still I get nothing.

We are having to resort to one try of PGD as it is all we can afford and it will have to be abroad.

sorry for your losses.


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## Tatertot

At least there is funding that you could theoretically get. Here we're on our own.


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## Daffodil11

HI Padbrat - I am so sorry to hear of all your MCs. Have you written to your MP? The PGD unit suggested that to us after we had been turned down for funding for PGD by our NHS PCT and waited for more than 2 years to get an answer. Our GP was also supportive and also wrote on our behalf. Don't give up.


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## Daffodil11

HI Tatertot - I am so sorry to read about your little one. I hope everything turns out OK for you both. My H has the BT. US medical care hard. Is there any support you could get from March of Dimes or other foundation to help you. We found Unique helpful too. Hugs.
PS lovely dog.


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## padbrat

Tatertot said:


> At least there is funding that you could theoretically get. Here we're on our own.


I am afraid you are wrong Tater... there is no funding for us to 'theoretically' get. The NHS is under such strain, for a number of reasons, that my Specialists have said that there is no funding whatsoever for fertility. I would also add that in many ways, the US system seems better, although obvioulsly you pay for it.

Congratulations Daffodil, you are one of the rare ones, which through no doubt a lot of effort who has had help with fertility. I hope it works for you this time hun.


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## brillbride

hi padbrat, where are u thinking of going abroad? I think cyprus is good


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## padbrat

I was looking at a clinic in Cyprus called the Dogus Clinic... I think... am also looking at one in Greece as well... are you considering treatment abroad too?


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## brillbride

i was going to try my 1st treatment in London..then if no success maybe try dogus, some of the girls on FF are going there, think its the cheapest at 5000e a go..xx compared to 10K sterling in London


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## padbrat

we were recommended Bridge for PGD and Lister for ED by our specialist if that helps..... but we can't afford London....

So am weighing up between Dogus and Serum in Athens....


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## brillbride

yeah we are attending the lister, im looking into funding at the mo but not sure if can get it, if we do go with the Lister then they will be doing ICSI with assay CHG and not PGD!
never heard about serum before, wonder is it as cheap as dogus...xxx
im trying naturally at the mo with clomid ..xx


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## padbrat

there is no funding for us... the NHS says I am too old to be a Mum... despite the fact this has been going on for 9 years! lol

It is only slightly more expensive than Dogus, and the Dr is English. Both the Dogus and Serum came back really quick to me.


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## brillbride

Thats great to know padbrat, hope we both get some success soon:)XX


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## x_Rainbow_x

Daffodil.. can i ask your unbalanced child, did he/she survive? sorry to ask.. i no to well what your all going threw and now im at a worse hurdle. 
Iv had 6 m/cs due to a balanced translocation. one of my 22's is broken and attached to number 2. iv lost all my babies at 7 weeks gestation. 
I was waiting for PGD when me and my husband split up. id waited 3 years for funding and i gave it away when i walked away from my marriage... 
I then met my now partner and got the shock of my life to find i was pregnant... im 14 weeks tomorrow, there is no sign of anything wrong on a scan this baby is healthy but the gentics team put the fear of god in me yesterday by telling me the scan wont always show the problems i might have to wait for birth or have an amnio... that isnt an option.
The chance of a unblanaced is small.. but still there. 
sorry for rambling on....


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## brillbride

congrats tracie and best of luck..xx


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## Krisbalanced

Hello! There is hope and finding this out does not mean you won't have kids. Try to stay positive. I know the feeling of thinking it won't happen. I was preg w my first child and found out the baby had severe abnormalities. That is when I was tested and found out I had a balanced translocation between the 7 and 11. I lost that preg. I did get preg again....he is balanced and now 10 years old, I got preg again, lost it due to an unbalance, the got preg again and he is balanced as well and is 7.
It will appen. Believe me it's way easy to say then to go thru I know but I'm proof that it can happen. Hang in there. If you have any questions feel free to ask me. I hope this helps.


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## Krisbalanced

Hi, I've got a translocation between the 7 and 11. How did you find out that specifically you would have trouble w boys in particularly? I'm curious bc my first preg was a girl and she was unbalanced and didn't survive, second was a boy...he is balanced, third was lost at six weeks so we don't know the gender, fourth was a boy who is balanced.
Thanks for any info you can give.


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## padbrat

Kris my translocation is in one of my X chromosomes. It appears that if a male child inherits my translocated X it is lethal to them. They develop normally with a HB until between 10-12 wks and then the heart fails.

The biggest shock for us was to discover that I am expecting a boy currently and seems to be thriving! My consultant believes he has inherited my normal X.


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## brillbride

Omg congrats patbrad. That's fantastic. Gives me hope 
X


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## padbrat

Have to admit brill i was shocked to find out this was a boy! After 6 losses 2 of which were confirmed as boys with my bad x i thought it would never happen! This boy really is a rainbow! Hoping you have yours soon x


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