Showing posts with label pericentric inversion. Show all posts
Showing posts with label pericentric inversion. Show all posts

Sunday, January 31, 2010

My Own Personal X-Factor

Sometimes when you ask a question, you get a different answer. I think every person in the world hopes they are unique, standing out a little from the crowd. But now I wish I was a little more like every one else. This week, results came back from the various tests I had done to try and discover why I have had three miscarriages. Because I have had two healthy girls, they didn't expect to find anything. But they did. Oh yes indeed. (Excuse my slightly manic upbeatness - it keeps me off the windowledge). I have been diagnosed with a phenomenally rare chromosome disorder. To be precise (and if I repeat this enough, it might eventually make sense to me) I have a pericentric inversion of my X chromosome. This means part of my chromosome detached itself, rotated 180 degrees, and reattached itself and is present in that twisted way in every cell of my body. Two days ago I knew nothing about chromosomes other than they sound like hormones and we all know how much trouble THEY cause. Now, I'm an internet expert, and still know virtually nothing.

Except this. When my dodgy X chromosone meets my husbands (perfectly good) Y chromosone when we conceive, we produce a fetus that is incompatible with life. And that is what they were. Three pregnancies incompatible with life. Which is funny, in that heart-breakingly awful sort of way, because I thought they were wonderful beginnings of life. We are seeing a Geneticist on Wednesday to try and find out what implications my 'disorder' (thanks, like my chromosomes are guilty of disorderly conduct) have on my girls, me and our chances of having another much-wanted baby.

So on one hand, I now know why I have lost three babies and there is some comfort in that. Not enough to take away my grief, but enough to know I hadn't done something wrong. On the other hand, a whole scary vista of not knowing has opened up before me. And there may not be any answers. Out of 7500 people on the UK's Rare Chromosome Disorder Support Group database, only 7 have a pericentric inversion of their X chromosome, and none have what I have. None. My consultant has never come across this in 20 years. When my husband said I was one in a million, it seems he was being very conservative.

And my chances of having another baby? My head is hurting from the swirling odds, and statistics and percentages that actually tell me nothing. But all I know is this. Somehow, in the chaos of my chromosomal catastrophe, two miracle girls emerged in a statistically sinister environment where the odds were not stacked in their favour. I have been incredibly, incredibly lucky..... and that, more than anything else in the last few days, is what has turned my world upside down.