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Balanced translocation - infant loss

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  1. #1
    barbiesthoughts
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    Balanced translocation - infant loss

    HI all

    New to this BB. Have been posting on the infant loss BB. I had a little girl who was delivered at 35 weeks due to being small. Was very very unstable and died after 5 days of being with us. (Her name was Maya)

    Have since found out that she had an imbalanced translocation and that she inherited it from me (BT).

    I know it is pretty uncommon to carry an unbalanced baby to (almost) full term. Has any one else had this?

    Also, dh and I looking into PGD at Sydney IVF - any info/ stories on pregnancy with BT would be cheering. Experiences at this clinic would also be appreciated if anyone has been here.

    Thanks
    Barbara


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  3. #2
    Berni
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    LC & INFANT LOSS MENT

    Barbara, I have an Ozzie friend (another loss mum) living here locally who has BT. She has had 7 children, one of whom died. Samuel was 3 days overdue and the cause was a true knot in his cord.

    I also found several links you might be interested in:
    http://www.bshg.org.uk/leaflets_foru...nslocation.pdf
    http://www.bbc.co.uk/health/conditio...and_unbalanced
    http://www.babycentre.co.uk/pregnanc...3miscarriages/

    Let me know if you want me to ask my friend anything.........
    Berni - mummy to Liam Michael Edwards b.10th May 2000 d.19th May 2000
    Born at full term plus 12 days overdue, Liam was 7lb 9.5oz and 22" long.
    Medical negligence at his birth.

    Its not about finding answers.......its about learning to live with the questions.


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    kellyrn
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    Barbie

    I am so very sad for your loss, truly Sorry to say that I have no answers, just a question. It was recommended to me to do PGD d/t having 2 failed fresh cycles and one failed FET. Not to mention all the failed clomid and IUI cycles. I did manage to have an ectopic pg on my own btwn tx. Have you had PGD before? What type of testing have you had prior to cycling? I really feel that they don't do enough of the right kinds of testing for us. Good luck and God bless!


  5. #4
    barbiesthoughts
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    I am afraid Kelly I am unable to answer your question. I am not up on IVF speak at this stage as i fell pregnant with Maya naturally. Maya had the chromosome testing done which revealed the imbalance (after her death) and then Jake and I had to get it done and it showed that I had balance translocation. Then my sister had to get it done (she was 22 weeks pg) and she had normal chromosomes, and then my parents had the testing done aand they were also normal, which means its my own little burden to carry. It did however spare me from telling the five other pregnant cousins that they might want to get tested.

    Long and the short being that I am looking at PGD as an option for ttc as we are terrified about going through a run of miscarriages, or another child dying. Want to be mum to a living child too.

    Thanks Bernie for the links - do you know if you friend conceived naturally? how did she come to find out about her BT? was there many miscarriages?

    email is barbienance@hotmail.com - not sure if she would be happy to jot down 'her story'. I know it's not mine, but it might be good to hear it non-the-less.

    b


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    kellyrn
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    Good luck to you Barbie, I hope that your sucessful very shortly!


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    Berni
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    Barbara - I have sent my friend an email but I am 99.9% sure all seven (yikes) babies she delivered were natural conceptions. I think she had an early mc between no. 5 and 6. No 6 was Samuel - the baby who was born still. After Samuel, she had baby no. 7 and since no. 7, I think she has had 2 more early mcs. I can't remember how she found out about the BT so I asked her that in my email. Forgot to give her your email address though, sorry.

    As an aside, I had to smile when I read, "I am unable to answer your question. I am not up on IVF speak at this stage" - I couldn't understand a **** WORD on the IVF BB when I first went over there!!!!! LOL Here's another link - this time to a handy cheat sheet for you! http://www3.fertilethoughts.com/foru...hp?pg=acronyms

    Will come and find you again when my friend replies!
    Berni - mummy to Liam Michael Edwards b.10th May 2000 d.19th May 2000
    Born at full term plus 12 days overdue, Liam was 7lb 9.5oz and 22" long.
    Medical negligence at his birth.

    Its not about finding answers.......its about learning to live with the questions.


  8. #7
    Berni
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    I have edited this for names/privacy etc - it turns out it's actually my friend's DH who has the BT, not the mum herself. And just to explain - the 1st 4 children were from my friend's 1st marriage - we join their 'story' at the start of her 2nd marriage.....

    Had amnio with No.5 as I was 35 years old and got the call to say abnormal result...panic panic panic. They tested DH and I and discovered DH has the BT. His brother was then tested and he has it too...and they have decided not to have a bioglogical child for that reason.
    No.5 was born safely and is prefectly normal but will have the same very high risk of miscarriage and unbalanced translocation.
    I then had a miscarriage
    No.6 (Samuel) also had the BT discovered via amnio. It had nothing to do with his loss SIGH
    Along comes No. 7....the amnio failed twice with that pg so we don't know. My guess would be yes as it appears dominant.
    I then had two successive miscarriages.
    So for six pregnancies in my 2nd marriage 2 had BT 3 has unbalanced translocation and one we are not sure. The genetic councellor gave me some statistics and the odds of miscarriage were 50%. The odds of BT were 25% and odds of normal chromosones 25%

    The chromosones involved are 3 and 19.

    Surely the only optopn with an assisted conecption would be early genetic testing...but had I had that and discarded even balanced translocations I would not have had No 5, Samuel or most likely No. 7.
    She also told me about another loss mum in our group who has BT. That mum has 1 LC, lost a newborn for unrelated reasons 5/6 years ago and since then has had several (4?) mcs. She is currently about 32wks pg, I think. I could email her too??

    Not sure if any of that really helps ~ ~ ~
    Berni - mummy to Liam Michael Edwards b.10th May 2000 d.19th May 2000
    Born at full term plus 12 days overdue, Liam was 7lb 9.5oz and 22" long.
    Medical negligence at his birth.

    Its not about finding answers.......its about learning to live with the questions.


  9. #8
    barbiesthoughts
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    Thanks Berni

    Thanks for getting back to me. It is good to hear but also kinda hard. And it kinda takes me further down the path DH and i were thinking of which was going through IVF getting a diagnosis before implanting. They can;t actually tell the difference between balanced and normal with the PGD apparantly(they only have 1 cell to work with). So more pot luck - even with all that intervention.

    Who'd of imagined parenting was such a fraught business? So many people do it. There are 5 billion people in the world and each was brought into existence one by one by a mum and dad! How does it happen?

    It's a mystery.

    Another one to add to the pile of things that baffle me.

    Take care of yourself in the way you take care of others. Can feel your generous spirit across the ocean.

    barbs
    Last edited by barbiesthoughts; 10-24-2006 at 09:23 AM.


  10. #9
    Berni
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    I did email my other friend/the other loss mum.........

    And here is her reply..........

    Hi,
    So sorry for your loss.

    My name is Wendy and I have a balanced translocation. It was discovered after a 20 week scan, as my daughter had a diaghramatic hernia, clearly visible on the scan. As the condition is operable and as the doctors could not be certian of her chances, we continued with the pregnancy. She was ventilated from birth but unfortunately her lungs had been too squashed to develop properly and she died at nine days old. A few months after her death we went for a genetic counselling session, we were told that each pregnancy would have three possible outcomes, the two good cells being present, should be o.k, the two bad cells being present(balanced), should also be o.k as my translocation is balanced or one of each (imbalanced), this was thought to result in a miscarriage but it is possible to carry to term with possible abnormalities.

    We decided we would try again after a break to heal physically and emotionally, we fell pregnant naturally although it seemed like forever! The result was a miscarriage at 9 weeks, we went on to try again and had two more miscarriages at 8 weeks, a year a part. Devastated we decided to give it one more try, praying hard, this time we were more successful, thank God, I am now 28 weeks pregnant, and early scans have all been good so far.

    All pregnancies were naturally concieved. I hope this helps, but all I can say is if you can bear it keep going, put any miscarriages down to the translocation and pray for a better cell mix next time.

    Wendy
    Berni - mummy to Liam Michael Edwards b.10th May 2000 d.19th May 2000
    Born at full term plus 12 days overdue, Liam was 7lb 9.5oz and 22" long.
    Medical negligence at his birth.

    Its not about finding answers.......its about learning to live with the questions.


  11. #10
    barbiesthoughts
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    Thanks Berni

    arghhhhhhhhhhhhh

    Such risky business.

    Me no like risks. Life has been too out of control already. I don't like rolling dice when the stakes are life and death.....

    Please thank your friend Wendy, she and her partner are brave people.

    Looking for some of that courage

    Barbs


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