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.

About Grin & Tonic by Alana Kirk

Bouncing into middle age armed with courage, ambition and a pair of tweezers (chin hairs for anyone over the age of 45 reading this) I am a writer with a mission: to redefine this midway point in my life when the last thing I want to do is hang up my high heels and become invisible. This is the end of the beginning, not the beginning of the end. A single mum to 3 fabulous girls, an author, and a fundraising consultant, both ends of my candle are on fire. As I enter this new stage of my life, I want to explore what it means for 'mid-aged' women today, who were promised they could have it all, ended up doing it all, and just do not identify with the traditional image of middle age.
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13 Responses to My Own Personal X-Factor

  1. cath c says:

    how wonderful to know a cause, what a miracle beyond for many of us your daughters truly are. the planets must have lined up for them when they were conceived. maybe one even twisted itself loose and stuck itself back in line, just for them.

    you made me cry.

    i have had my share of miscarriages and other problems, too, and recently discovered i have ehlers-danlos syndrome. another weird genetic thing, but not nearly as rare as yours. tomorrow i have surgery to correct the problems of having eds and multiple pregnancies. please keep me in your thougts. and i will keep you in mine, as i understand how much you want one more…i hope they can see a way for your family.

    you are one in a million.


  2. Working Mama says:

    My heart goes out to you. It must have come as a terrible shock to be told that. Try to stay positive (easy for me to say I know) but you have two wonderful daughters which you have now learnt was against all the odds so there is nothing to say you can't have that much longed for baby x


  3. Mummy mania says:

    thank you, thank you… your words and thoughts mean a lot. and cath – I'll be thinking about you tomorrow xx


  4. Josie says:

    Oh my lovely.

    Crying tears for you because this all sounds so bloody awful and scary and I am overwhelmed by what miracles your two beautiful girls are and how much you deserve to have your wish of another addition to your family.

    Answers are good. Answers mean you can move forward. But there must be so much grief and fear and confusion too.

    Wrapping you up and holding you tight with all the love and hope I can muster.

    Thinking of you xxxxxxxx


  5. Caz says:

    My goodness – what a lot to cope with mentally and emotionally. How wonderful to think you have those beautiful girls – but still the rest sounds heart breaking. Thanks for sharing (I'm very thankful for my little pinks!)


  6. Gosh, I'm so sorry you lost three little babies (welling up here and feeling slightly lost for words). Hug those two miracle girls tightly, they are proof that there is still hope. Much love, x


  7. Diney says:

    Your two little girls were special to you both before, but you will cherish them even more now, if it is possible. They defied the odds so there is nothing to say it won't happen again, and you may well be able to move forward. You have answers, which is much better than just having shrugs of 'can't explain'.Good luck x


  8. Foodie Mummy says:

    You must feel so relieved to have found a 'cause'. Children are little miracles and particularly your two little girls. Hope it all goes well on Wednesday! Big hugs


  9. Mary says:

    I've been thinking about you since I read this last night. What a miracle your two little girls are! And while it has to be a relief to have some answers it seems like now there are more questions too. I know this place well and wish you all the best navigating the known and unknown!


  10. Oh my goodness, you must be so overwhelmed by all this. Hopefully, the answer to your confusion will help and I sincerely hope beyond all hope for you that another miracle is waiting for you around a corner not too far away. xx


  11. Your two girls are two beautiful little miracles. I realy hope you can find the answers you're looking for in the middle of what must be awful confusion. Thinking of you x


  12. I am so sorry to hear what you have been through. The pain of miscarriage is enough. But even in the relief of finding the answer, there is still so much confusion and concern. I really hope that you will be able to have more precious children. You are an awesome mom and I pray that God will bless your family with more beautiful souls. Love and prayers to you.


  13. Mummy mania says:

    thank you all so much, your words mean so much… really.


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