Hi Mangoo
www.rarechromo.org/media/information/Other/Balanced%20translocations%20FTNP.pdf
Unique are a superb organisation this is a link to their info on BT.
I had 3 miscarriages prior to 12 weeks before I was tested.
To put is very very simply - and it really is much more complex every time we get pregnant there are 3 options - baby with complete normal chromosomes - Healthy baby.
Baby with balanced Chromosomes - so in my case parts of 3 and 11 have swapped but are all correct. Healthy baby who may have issues conceiving.
Baby with unbalanced chromosomes (which has many options within that so mine might had 2 x big breaks of 3 and no 11 or 1 Big break and 1 little break of 11 but no 3 etc etc.) This means that the baby does not have all the chromosome information necessary to develop, so may die in the womb, die at birth or be disabled.
As most Balanced translocations have unique breaks - I have never found anyone with the same 2 chromosomes affected let alone the same breaks within the pair it is impossible to predict the outcome.
Generally people with large breaks are more likely to miscarry then have a live disabled child. Some chromosomes are recognisable as to the part they play in development, so a certain chromosome with a break may mean that it is likely to affect brain development.
But it is a very new science and lots of mystery.
I had a karyotype test which discovered the BT after 3 M/c. This is an expensive test and not generally given in the first round of tests. As other more common issues are generally to blame.
As you already know your mum has a BT I would specifically ask for this test.
I have 2 children, 1 has normal chromosomes and 1 shares my BT.
We assume that the losses we have had were unbalanced but only had those I lost in the 2nd trimester tested. Miscarriages are common so it is possible that some of them did not develop for non related issues.
It is really important to remember that you actually might not have your mum's BT at all. My sister and brother have normal chromosomes. 1 has 3 children and no losses the other has had many non explained losses.
So it is feasible that you have normal chromosomes, but have had 2 devastating losses that are not due to a BT.
It is also feasible that you have inherited a BT and each pregnancy will have a higher chance of ending in sadness. BUT you are alive. So there is proof that people with the BT can grow healthily.
My consultant appointment was pretty hideous. I was told that any baby I had would be 'incompatible with life.' That my husband should be sterilised and all my family tested to see where the BT originated.
He was very very wrong. I joined a number of support group s and did lots of my own research. My parents didn't want to be tested as they did not want to feel one was to blame, they are also only children so I have no cousins that could be affected and their parents came from enormous families - 6,8,11 and 12, so the logistics of contacting all second cousins was impossible.
So I have a BT. I had many years of heart ache and totally understand the place that you are in now. I also have 2 healthy, happy girls. One who may have struggles with their own fertility, but who knows what medical science will be able to do in 20 years.
I really think you need to hold on to the fact that you are alive. No dr can say you can't have a healthy baby. If you have inherited a BT it will be identical to your mums.
I think I would want to go to the appointment with that knowledge. Find out for certain if you have a BT - they may have more info about the specific chromosomes that when your mum was diagnosed.
Next time may be THE time, one day it will be.
In the meantime try not to feel too negative about other people's pregnancies, who knows what their struggles have been. One day it will be you with the big round tummy, totally oblivious to a lady close by wishing she could be you.
Sending strength and kindness.