The Truth About Balanced Translocation
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Guest Bloggers
After suffering recurring miscarriages and no real answers from the medics as to why this keeps happening and what can I do to keep my next baby, I went seek advice privately. Here is what I learn and how this helped me to stay pregnant this time around.
After having 2 miscarriages over 10 years ago, I was convinced this was normal. It was only when I met my husband 3 years ago and we suffered another one I started to raise alarms and question my ability to keep and carry a baby. I was just over 30 at the time. Having suffered 3 miscarriages puts a woman into a high-risk group (in Ireland anyway). As a part of post investigation, we attending pregnancy loss clinic, where they carried out some blood tests. Those tests were NOT in any way full or complete as I learned later. We did, however, learned that I have a condition called balanced translocation, which means, in fact, I can have a miscarriage when cells do not form a perfect embryo or if it survives, baby can have a genetic abnormality, like Down Syndrome. I was devastated and all I was told is to see a geneticist. I was told there are only 2 in Ireland and the waiting list for those is about 12 months. We were also advised to wait that long before trying again. I went home crushed and hopeless, but I refused to give up. Both I and my husband wanted a family badly. I did my own research on genetics and emailed both geneticists that night. The following day I got a call from one's secretary and the appointment was scheduled in Dublin for the following week (not 12 months later as I was told). As this is a consultant and specialised the fee is a lot higher, but the upside is - you get something back if you have health insurance, also 20% through tax if working (at the end of the year) and you only need to see him once.
The appointment lasted about an hour and we learned that although I have this condition and it cannot be reversed, this is likely to only account for 1 miscarriage in 7 and there are tests available to see if the baby will have any abnormality very early in pregnancy. There is also an anomaly scan at 22 weeks that can detect any issues, but I did not have to wait that long in case I chose to terminate the pregnancy. This did not give me all the answers and why I had other miscarriages, but it did give me comfort and hope that I CAN have a healthy baby despite my own condition. This seemed a numbers game, if you continue getting pregnant, one of those has a good chance to be a healthy baby. It was encouraging in a way, but who in the right frame of mind would want to go through another miscarriage? What we did learn is that if you do have a miscarriage, it is in a way better than learning you have a baby that is genetically abnormal. And after all, if I did not have all these miscarriages, I would not have known I actually have this condition. As many women end up not having right tests done throughout pregnancy (those are not offered as standard in Ireland) and end up with children who are affected and who, in fact, could be diagnosed while still in the womb.
Although we were determined to go back to trying right away, it was another year before we found out what was really wrong with my body and why I could not go past week 12 with pregnancy. We had 8 months of unsuccessful attempts of trying with no joy but now are 2 months away from being parents of a genetically perfect baby boy.
To be continued...
Regards,
EL
Advocating for more and better information and support before and during pregnancy.
After having 2 miscarriages over 10 years ago, I was convinced this was normal. It was only when I met my husband 3 years ago and we suffered another one I started to raise alarms and question my ability to keep and carry a baby. I was just over 30 at the time. Having suffered 3 miscarriages puts a woman into a high-risk group (in Ireland anyway). As a part of post investigation, we attending pregnancy loss clinic, where they carried out some blood tests. Those tests were NOT in any way full or complete as I learned later. We did, however, learned that I have a condition called balanced translocation, which means, in fact, I can have a miscarriage when cells do not form a perfect embryo or if it survives, baby can have a genetic abnormality, like Down Syndrome. I was devastated and all I was told is to see a geneticist. I was told there are only 2 in Ireland and the waiting list for those is about 12 months. We were also advised to wait that long before trying again. I went home crushed and hopeless, but I refused to give up. Both I and my husband wanted a family badly. I did my own research on genetics and emailed both geneticists that night. The following day I got a call from one's secretary and the appointment was scheduled in Dublin for the following week (not 12 months later as I was told). As this is a consultant and specialised the fee is a lot higher, but the upside is - you get something back if you have health insurance, also 20% through tax if working (at the end of the year) and you only need to see him once.
The appointment lasted about an hour and we learned that although I have this condition and it cannot be reversed, this is likely to only account for 1 miscarriage in 7 and there are tests available to see if the baby will have any abnormality very early in pregnancy. There is also an anomaly scan at 22 weeks that can detect any issues, but I did not have to wait that long in case I chose to terminate the pregnancy. This did not give me all the answers and why I had other miscarriages, but it did give me comfort and hope that I CAN have a healthy baby despite my own condition. This seemed a numbers game, if you continue getting pregnant, one of those has a good chance to be a healthy baby. It was encouraging in a way, but who in the right frame of mind would want to go through another miscarriage? What we did learn is that if you do have a miscarriage, it is in a way better than learning you have a baby that is genetically abnormal. And after all, if I did not have all these miscarriages, I would not have known I actually have this condition. As many women end up not having right tests done throughout pregnancy (those are not offered as standard in Ireland) and end up with children who are affected and who, in fact, could be diagnosed while still in the womb.
Although we were determined to go back to trying right away, it was another year before we found out what was really wrong with my body and why I could not go past week 12 with pregnancy. We had 8 months of unsuccessful attempts of trying with no joy but now are 2 months away from being parents of a genetically perfect baby boy.
To be continued...
Regards,
EL
Advocating for more and better information and support before and during pregnancy.
