Friday, September 5, 2008

Balancing your chances with a balanced translocation

From the time we discovered DH's balanced translocation, it has been a constant topic of research and discussion in our house. On one hand we were really excited to finally have SOMETHING which could point towards being the reason for our IF struggles. On the other, it really hit us as being something not fixable.

As we talk to people, we realize that this is a topic most people have no clue of. And why should they? Unless you're in the research field working on chromosomes, or unless you have been directly hit by 2 translocated chromosomes at some point in your life, you wouldn't know what they are and the impact this could carry.

What is a chromosome translocation? It is the re-arrangement of parts between different chromosomes. There are 2 types of translocations:
Reciprocal (the kinds DH has) and Robertsonian.
Further, the translocations can be Balanced (where the total chromosomal material is not impacted) and Unbalanced (where the exchange of chromosomal material is not equal)

DH has a Reciprocal Balanced Translocation on his 11th and 22nd chromosomes. This means a part of chromosome 11 broke and got attached to chromosome 22. An equal portion of 22 broke and got attached to 11. This means DH's chromosomal material is complete - he is not missing any genetic information, neither does he have any extra.

Here is an image

We carry 2 sets of chromosomes - one set from Mom and one from Dad. When a sperm or egg is made, it comprises of 1 set of chromosomes, and fertilization is what completes the 2 sets. 

In the case of a balanced translocation chromosome carrier, there are chances that his / her gamete (sperm or egg) COULD be balanced or normal, or could be unbalanced. Here is an image which shows the probability:

This is the normal / standard probability. However, individual numbers or rates would vary.  For example, in our case, we seem to have only 1 in 10 embryos turn out normal / balanced. So our rates don't appear to be the 33% that shows up in this diagram. In our case we fall in the low 10% category. 

(Please Note: This image shows a translocation on both arms of the chromosome. DH's is single arm - so his percentages may differ - I'm still looking for an appropriate image to post here)

.16% of the world's population (1 in 625 people) carries a translocation. In most cases translocations go undetected until this person experiences infertility / multiple miscarriages, or has a baby with birth defects which are chromosomal in nature and traced back to parental karyotypes. 

If a couple gets pregnant with an unbalanced embryo, the woman will most likely miscarry the baby. In some cases, pregnancies do carry on to full term, and the couple may have a baby which is severely disabled in multiple ways. 

The way we can bypass this is by subjecting our embryos to PGD and selecting only the normal / balanced ones for transfer. Some studies say embryos formed from gametes of a balanced translocation carrier could be more pre-disposed to aneuploidy. We don't know that for sure yet. 

It's been a fascinating and at the same time extremely daunting and scary topic to research. Today I found an article which talks about the EXACT same translocation that my DH has, except in this case it is the mother who has the translocation. So her karyotype begins with 46 XX and DH's begins with 46XY. The rest of the karyotype is exactly the same. This poor woman had a baby with an unbalanced translocation (she did not know about her translocation till the baby was born with special needs) and needless to say, her life and world have been turned upside down since then. I got goosebumps reading the article. Here is it for those that are interested:

The purpose of this post is to bring some awareness to our reality. We talk this language EVERYDAY, and are scared out of our wits. Sometimes we think that most REs don't really know this subject that well, and we have often heard our REs admit they don't. They refer to their knowledge as something that is really the embryologist's knowledge. We have now started emailing doctors and scientists in Japan and China etc to get some more insights. 

At the end of this - I am going to demand an honorary PhD in the topic! :-)


Jewels said...

Yeah, you should get an honorary PhD with what you know and how well you explain it, I almost get it. It's so amazing what we learn, but it is frustrating that life works this way sometimes.
This topic has really made me wonder though about my self. Hrm...

Shelby said...

In this journey, I have learned more than I ever wanted to about genetics, basic physiology, etc. (of course, no where near your honorary PhD!)

In learning more about it, it makes me wonder how many of those dealing with IF have undiscovered translocation. I do wonder if the number would be much higher if karyotype testing was part of a basic workup. By the way, at one point did your doctor suggest it?
It wasn't until RE #3 that genetic testing was even mentioned. I think I may elect to do the testing myself.

Thanks for the info. I'm sorry this has made the IF battle so much harder, but it is such good knowledge to have.

Earl Gearl said...

Wow. Thanks for the information. Isn't Down's cause by an extra 22 or something like that? You definitely deserve an honorary Phd!

I Believe in Miracles said...

Hi Nikki,

Thanks for the comment & encouragement. I've added you to my daily reads so I can keep up.

I think you'd definitely deserve an honorary PhD after this. It's hard, because I've always wanted to know what is wrong, but have been afraid it won't be fixable. I'm sorry that your finding out will make the battle much harder.

Best wishes,

mariana said...

I know I am a little late to your blog, but have just been diagnosed with a balanced translocation myself and came across your blog post and wanted to say thank you! Your link for the article you suggested is no longer a working link, by any chance do you know where I can access the article your originally posted?

Thank you for sharing all this information and your story!