Lucy’s Story – A prenatal Diagnosis

August 30, 2018 / Comments (0)

Stories

I had to arrange my 13 weeks scan privately and Sydney UltraSound for Women recommended the NIPT test. I willingly had this due to the greater accuracy for Downs Syndrome… this was my third pregnancy and I was over 40, plus it now only cost a little more than the standard Nuchal Translucency Scan.

I knew something was “wrong” when they phoned the day after the test (a Friday) – multiple times… and started calling me and then my partner again on the Monday. We were on holiday, so slow to answer.

I called back… already feeling sick at the thought that there was something seriously wrong with the third child I so badly wanted. I had never heard of XXY or Klinefelters, and to be honest, only heard part of what the nurse was telling me.

  • What I heard…..infertility; my little boy would never be able to have children of his own
  • What I asked….life expectancy; I learnt that there wasn’t any difference in life expectancy of an XXY boy (and I was in too much shock to ask much else…..and my other two kids were just outside the bedroom door)
  • What I remembered… her insistence that I book in a CVS and/or an amnio to confirm the diagnosis before deciding on a termination… and her telling me not to Google
  • What I did on putting the phone down… Googled (and cried)

I spent the next two days Googling every chance I got (whilst trying to act normal for my eldest’s fifth birthday!) It was pretty bleak, particularly some of the images of men with breasts. It was also frustrating; I just wanted the facts, but there seemed to be little that was up to date. I found a Facebook group….this was also scary as many of the people on there had older children and there seemed to be so many issues …..fortunately someone in that group directed me to an XXY babies Facebook group. Finally I had found the other side of the coin, the happy stories, the beautiful boys and the (rightly) proud parents. The more I read, the more I realized that this was something I could cope with… and not because I’m an amazingly strong person; I’m totally not… but because XXY is a spectrum and early intervention could make a huge difference. It took me a little while to get over knowing the gender of my third child; the first two were surprises and this would have been to, had it not been for the NIPT test throwing up the genetic flag. I worried about XXY, but chose not to confirm the diagnosis until after birth as I wanted to hold onto the small chance it was an incorrect reading… and I don’t really like needles… and didn’t want to increase the chance of miscarriage. I also reasoned that if I terminated and tried again, if I was lucky enough to get pregnant, it could be even worse (I’m old!) This was my last pregnancy and I tried to enjoy every moment of it… it went by too quickly (running after the other two!). I had a few more scans than “normal” as the first obstetrician I saw at the public hospital flagged genetic abnormalities could cause growth to slow/stop. I welcomed these as it was a chance to confirm my baby was OK (I was much more scared the third time… older and more aware of the dangers). I also chose to talk to the Genetics team. They were reassuring and learning more about the prevalence of XXY all the time.

I’m lucky in that I have easy pregnancies… the only difference in this one was the time I spent reading about XXY – mainly via other people’s stories on Facebook.

When my son finally made his appearance he was beautiful and everyone said how much he looked like the other two. I loved him fiercely and within moments, couldn’t imagine life without him

We had the blood test… results took over a week (Easter got in the way). I kept hoping we would be “lucky” and it would be negative. Of course it wasn’t… then I had another week hoping it would just be mosaic (in one cell). Of course it wasn’t (it’s in every cell).

At 6 months old, it’s too early to tell where he is on the spectrum… but he is doing everything around the same time as my first son. We’ve had the T-shots, I’m continuing to read the latest research and I’ll intervene if I need to.

XXY can’t be “cured”, but on the other hand, it isn’t something that needs to be managed every minute or even every day. It isn’t life-threatening (unlike some common allergies). It isn’t obvious to others. We just need to watch that milestones are met and that difficulties are addressed as soon as possible

Overall, I’m so incredibly grateful that I know about the extra X so I can make sure I give my little boy every chance to shine.


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