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  1. #1
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    Default Robertsonian Translocation 13:14

    Hi Ladies,

    I was wondering if any of you could please share some stories with me (hopefully happy ones)! I have had two miscarriages in the past 6 months. My ob sent my partner and I for genetic testing and it confirmed that I have what is called Robertsonian Translocation between Chromosones 13:14. People with this translocation have no abnormalities and often do not know they have it until the experience recurrent miscarriage and undergo Genetic Testing. My parents are going to be tested to see if they may also have this and it was passed on to myself during conception (it may however be that it was a just something that happened).
    We have been advised that we have a 33% chance of conceiving a baby naturally with the correct chromosomes. We have decided to start now rather than later as I do not want age to also start playing a factor. IVF is always an option down the road but right now my genetic counsellor said that we should try naturally as people with this translocation often have children naturally. We are spending 3 months prepping our bodies to make healthy babies so fingers crossed the next sticks! I’ve already had two, that is enough!

    Does anyone else have this or any other translocation or know of anyone that did? I suppose I’ll hear good and bad stories. But it would be reassuring to hear some success stories from you all.

  2. #2
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    Hi

    I have a Robertsonian translocation of 13 and 15 and have been trying to get pregnant for over a year. It was picked up in testing early this year and after seeing the genetic counsillors I think we are going to progress to IVF with PGD.

    The good news I have for you is my sister has the same translocation and has two healthy, beautiful girls. She has had two miscarriages (we now know why) but has had no problems getting pregnant and if it wasn't for me she would never have known.

    It is basically just a numbers game and eventually the good embryo will come up! Hopefully without too much heartache along the way.

    Feel free to PM me, I have found it good to be able to offload on other people who know what you are going through

    Wishing all the best

  3. The Following User Says Thank You to Scruffy For This Useful Post:

    1stmumatobe2011  (20-04-2011)

  4. #3
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    Thanks Scruffy! I just sent you a PM. Hopefully you will get it because it doesnt appear in my sent items :-)

  5. #4
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    Default Any success so far?

    Dear 1stmumatobe2011,

    i have just found your post from lasat year on this website and have signed up specifically so i can chat to you about how you are getting on.

    My husband and i have suffered 4 miscarriages in the past 12 months and have just found out that he is a mosaic Robertsonian Translocation carrier -mos45,XY,dic(13;14)

    We are awaiting a referal to see a genetic counsellor, before we will know where we stand with regards to being able to have succesful pregnanices naturally.

    I was wondering how you and your partner are getting on now...as you posted a while ago and i'm sure things will have moved on for you. It would be great if you were able to respond to this post (or indeed if anyone else out there is able to share their experiences of dealing with this issue).

    Many thanks and may this post find you already successfully pregnant with a healthy one on the way!

  6. #5
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    Hey AnakAnak! I have great news - I'm currently 32 weeks pregnant with a little girl that has the same RBT 13:14 as me :-)
    I lost 2 lil ones before 8 weeks and we found out I was pregnant again in July/August last year (while planning our December wedding!). We went into this pregnancy differently as we were aware that their was only a 33% chance that bub will have the correct amount of chromosomes. When we got past the 7 week mark we were hopeful but very cautious. We had our 12 week scan and blood test with a specialist and they seemed very happy that this bub was healthy. As we were also seeing a genetic councellor, she advised that we consider CVS or Amnio testing to confirm that bub did not have the chromosome abnormalities associated with our RBT (Tri13 and UPD14). Somehow we got through the weeks of waiting and 2 weeks after our amnio at 16 weeks we recieved confirmation that we were having a little girl that had the correct amount of chromosomes (the same RBT as me)!! We count ourselves so extremely lucky that we have been givin this lil one on the way because after receiving the RBT diagnosis I was devestated and went through a very dark few months.
    When we found out about this we were happy to try naturally a few more times and then reasses our feelings. Each loss takes such a great toll doesnt it? We have been lucky in that we have only lost 2 so I dare to imagine how you are feeling after losing 4. My heart goes out to you and your partner because I know how hard it is!! I wish you luck with whichever path you choose. Living with RBT is extremely hard. I grew up thinking that you have babies when you want to have babies and I've soon realised that is not the case at all. BUT I have heard many success stories from people that have the same RBT as myself and your partner.

    I would also suggest joining the below yahoo group -

    http://health.groups.yahoo.com/group...ranslocations/

    You just need to create a YAHOO account if you dont already have one.
    It is a bunch of people that all have different translocations and I found them a HUGE support when I found out about my RBT.

    Can I also ask where in Aus you are located? I am in Melbourne and saw the genetic councsellors are Monash Clayton and they were incrediable :-)


    PLease feel free to private message me whenever you want!

  7. #6
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    Hi AnakAnak and 1stmumatobe2011

    I found out last year that I have robersonian translocation 13,14 after 3 miscarriages. I was looking on the Internet for some success stories and came across your one .

    Its truly wonderful news , 1stmumatobe , About your little girl, and has shown me that it is possible to have a successful healthy pregnancy .

    Anakanak, I was just wondering if you got to see a gentic counsellor and what the outcome of that was?

    I saw a genetic counsellor last year who advised me of IVF with PGD and this is something we will be starting in a few months , as it has been 4 years since we started trying which has felt like a life time !

    Its not easy sometimes but reading posts like yours makes it easier

  8. #7
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    Default Success for your encouragement

    Dear Suntrap (and 1stmumatobe2011),

    thank you for your post. My heart goes out to you and i'm so sorry that you're having to deal with this hugely challenging issue. I really hope that my response will give you information and encouragement as you and your partner seek the desire of your heart.

    I understand the pain of loosing numerous little ones. In total my hubby and i lost 4 before we discovered what the issue was (as stated in my last post we lost all of these in 2011 - that was a tough year!).

    We saw a genetic counsellor at the beginning of 2012 who was incredibly helpful in explaining to us what Robertsonian Translocation is, how it had occured in my husband and what our chances for being able to have children would be. Apparently because my husband is a 'Mosaic' RT carrier rather than 'Balanced' (that means not all of his cells have the RT issue, but actually the chances of us having a healthy pregnancy are almost the same, if not slightly worse, than someone with a balanced T), the geneticist could identify that he did not inherit his RT status from either of his parents, it was a simple matter of some of his 13 & 14 chromosomes sticking together when he was a mere few cells old in his mothers womb! We were informed that we had a 33% chance of conceiving a healthy child (this child would then have a 50/50 chance of inheriting RT or not). We were also informed that we would have a 16.66% statistical chance of conceiving an unhealthy child (one which would have Patau syndrom). Embryos developing with Patau's syndrom are usually spotaneously miscarried in the first few weeks of conception (along with the other 50% of unbalanced embryos conceived), but that some could make it to a later gestation and be still-born, or indeed they might even survive long enough to be born, but then would likely die within the first few hours, weeks or months of life.

    We, like yourself, were then advised that the only way to prevent the conception of an unhealthy embryo would be to go down the IVF/PGD route. We were put on a waiting list but decided to carry on trying whilst we waited, as we were told that it might take a while to 'get into the system'. Once we were armed with this information we figured that any more losses would be a little easier to handle, as we at least had an explanation as to why they were occuring and we had a hope in the IVF/PGD back-up plan. I fell pregnant again in Februrary this year and had an early scan at 5 & 6 weeks because i began experiencing pain in my side and was concerned about extopic pregnancy. At the 6 week scan we discovered that i was pregnant with non-identical twins (i swear the Maca root tablets i'd been taking helped me release two eggs that month, one from each ovary)!! By 7 weeks we were delighted that i hadn't yet miscarried...as all my previous miscarriages had been around that gestation time or earlier. However, the 7 week scan showed that one of the twins had died. We highly expected the other one to follow the same fate, but miraculously it went from strength to strength and i am now in my 32nd week of pregnancy!

    Our genetic counsellor offered us to have a CVS test (as descirbed by 1stmumatobe2011) so that we could discover the RT status of our little one, and more importantly determine whether it would suffer from Patau Syndrome. We decided against this test, as the procedure carries a risk of miscarriage and also because of our faith we would not have been comfortable aborting a Patau baby anyway. We were therfore given more than the usual amount of scans, to track the develpment of our baby, and thankfully the consultant was able to determine from these scans that our baby almost certainly doesn't have Patau Syndrome (they are 99.9% sure!).


    We still don't know the carrier status of our little one, but have decided against finding out. When they are old enough we will inform them that they may be a carrier and at that point they can choose whether they want to be tested or not.

    Words can't describe our gratefulness and relief that we have gotten so far in this pregnancy and that it seems as though all will be well. However, we take nothing for granted and wont be able to breath the final sigh of relief until the little one is born and checked over fully.

    Suntrap, don't loose hope. 4 years is a long time, but i've known people who've tried for 18 years and finally been given the desires of their heart! I really pray that you have joy with the IVF/PGD route. Check out this really interesting blog for amazingly hopefully testimony. http://infertilefarmer.blogspot.co.uk/ The is also a huge wealth of useful, accurate and reader friendly info to be found here: http://www.rarechromo.org/html/contactus.asp

    You can also find incredible men and women who, like us, are also living with RT...some of who are rejoicing and some of who are still waiting...but all are ready to listen, support and give advice. The group is the Yahoo one described in 1stmumatobe2011's e-mail. The thing i find really interesting about this group is that many of the members know far more about this condition and the treatments than many of the consultants, doctors and gynes that my hubby and i saw. They are experts because the field is their life!

    Please keep in touch and do let me know how things go. I will keep you and your partner in my prayers. Take care.

    AnakAnak

  9. #8
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    Hi Suntrap and AnakAnak,

    Firstly, AnakAnak - I'm so happy to hear you are currently 32 weeks pregnant (but also sorry to hear of your losing the other twin) I know the excitement you must be feeling (and also the caution)! When the journey to hold your little one in your arms is such a long and angonising one, those first few moments are something you will NEVER FORGET! I cry thinking about seeing my little girl for the first time!! I wish you all the happiness in the world - and I cant wait to hear your exciting news!

    Suntrap - I'm so sorry to hear of your losses. Each one takes such an enormous toll on your body and mind! I would really recommend joining the Yahoo group and the information/experiences people share on that forum is priceless.
    We were informed of IVF with PGD but decided to try naturally as we were able to get pregnant easily. But we had set a limit on how many losses we would be able to endure before we just decided on PGD - age is also in our favour so we had time to time (and the price of PGD was also a factor for us). I have spoken with many people on the yahoo forum that have gone down the PGD route and had amazing success!!! Thank god for modern medicine!

    Please feel free to private message me with any questions you may have!

  10. #9
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    Thankyou so much for your replies, its so nice to be able to chat to other people in the same situation and who understand what we have to deal with.

    It was a real shock when I first found out about my translocation, and what made it even worse, was that I received the news in the post one week day, when my hubby was at work so I had to read it about 10 times for it to sink in and had no-one to discuss it with!

    Anyway, I found our genetic counseller quite vague, and I left feeling none the wiser really. It also turned out that, like your husband AnakAnak, this had just happened at conception and neither of my parents had it.

    We were then referred to see someone about IVF/PGD, and decided that this would be the best option for us, given the time it has taken us to fall pregnant 3 times. We were told that we must avoid getting pregnant from this point onwards, which has been hard as even though i know we will be starting treatment soon, I can't help but wonder if the tables might have turned for us and, like you both, could have fallen pregnant naturally (and successfully). However, I understand that I have this amazing opportunity coming up so I need to focus on that and get myself ready mentally and physically.

    AnakAnak, reading your post made me smile and weep, you certainly have been through alot and this pregnancy is such wonderful news , sounds like you've got a little fighter on your hands !

    1stmumatobe2011, Congratulations on your little girl! .. I will definetly check the Yahoo group out!

    Thanks again for your insipiring stories and I will keep you posted on any developments....

    Suntrap

  11. #10
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    Hi Ladies!

    I know this is a very old thread but my husband has recently been diagnosed with a robertsonian translocation of 13:14. And we are devestated. The worst part is I was pregnant and had to terminate at 13.5 weeks due to trisomy 13 but it could have been completely avoided if our doctor had shared his results with us LAST YEAR (which was when the test was performed). We are now waiting for our remaining 3 embryos to be tested and I feel really helpless.

    I know there are some success stories on here already but I wanted to see how everyone is going now and if there is anyone else that has recently discovered this. We feel alone and like no one understands what we are going through, so it would be nice to hear from other people in our situation.

    Thank you in advance 😊


 

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