- 5 years ago
- Wedding: June 2012
Hello, ladies. Decided to write this post with two objectives: first, try and find more people who are in the same boat as we are or who have it themselves and second, as awareness, really.
I am 22 w+5 d pregnant with my third child. It was a huge shock to discover i was pregnant and for awhile we didn’t quite know what to do (due to our age and already having 3 kids between the 2 of us). Decision was made (having the baby!)and because i am 40 the doctors advised us to have the amniocentesis. I was a bit reluctant as first scan at 11 weeks was perfect, but decided to do it. This was on Feb 15th.
72h later, first results by phone – all was well, no trissomies AND a Boy!! Huge relief and bursting with joy, of course..Then following week, a weird phone call from the hospital, asking us to go and give blood samples (from the both of us) as the lab that was analyzing our baby’s DNA had requested it. A little worried, we went and the doctor said not to worry, they had found some part of the Y chromossome was missing but not important..
A week later, another call and the voice sounded stressed..so to the hospital we went again and this time i was sick with fear. We were told our baby has a rare chromossome anomaly known as Balanced Translocation between chromossomes 13 and Y. The odds of having mental disability and/or congenital malformations were 6 – 10%..but as the Y chromossome was involved and it was broken in a not very significant area, the chances were lower..also, we were told there was not much information on literature because couples chose to terminate the pregnancy rather than to take a chance..well, you can immagine how our world collapsed.
After an entire night with crying and sobbing, i desperatly researched the internet and what i found made a HUGE difference. I discovered the BT world in a yahoo group and in other fertility sites. Plus read about BT in Unique and a friend sent me a couple of genetic articles. Apparently, with 1:560 odds of any newborn having this anomaly, there may be 12 millions people in the world who have this and don’t even know it. As far as i researched and talked to people all over the worls, as long as it is balanced, there shouldn’t be any issues regarding the brain.
3 morphological scans and 1 fetal cardiac scan after, all passed with honors, we decided to look upon the 90 – 94% chances of our baby being 100% “normal” as very good odds so we are indeed welcoming our baby into our family! It’s been really tough but we know we are doing the right thing.
Just a word: BT is a major cause for infertility problems.
Sorry for the long post, but i felt i had to share our story..