Frankie & Chromosome 15 Duplication Syndrome – Part 2

chrom-15As a carrier of Chromosome 15 Duplication Syndrome, if that is indeed the case, I have more questions than I have answers to, for example:

Were any of the 6 miscarriages I had linked to Chromosome 15 Duplication Syndrome?  They were put down to my ex-husband having spina bifida occulta and high sperm morphology (i.e. abnormal sperm, up to 85% in his case).  But could they have been caused by both his condition and Chromosome 15 Duplication Syndrome?  I may never know the answer to this but 75% of all babies who have Chromosome 15 Duplication Syndrome are miscarried in the first 6-8 weeks of pregnancy, which is exactly when my six miscarriages occurred.

What are the chances of my next baby having the same condition? The usual genetic condition ratio is that 1 in 4 will get an inherited condition, does that apply in this case?

Was it down to anything I did wrong when I conceived?  Could I have done anything to prevent it?

Even if I have a child who doesn’t have Chromosome 15 Duplication Syndrome, could they pass it on to their children if they carry it?

That’s just a handful of the questions I have.  Some of them I’m sure will be answered by the genetic counselling, but I have to be prepared for the fact that they may not.

Would I have done anything differently with my pregnancy while having Frankie? I can honestly say hand on heart no.  I did everything by the book and had an uneventful pregnancy – I didn’t drink at all, I don’t smoke, I ate healthily, I exercised, I took my folic acid religiously and pre-natal vitamins religiously and I avoided things like soft cheeses, pate and anything with raw ingredients in it food wise just in case.

Well, there is just one thing I would have done slightly earlier, and that’s have the amniocentesis test as soon as I could.  We may have known sooner, which would have put us in an awful position, but we would have known.  I was offered the test but as my screening results for Downs Syndrome came back as 1 in 100,000, no further testing recommended, and as the test can cause miscarriages, my husband and I decided it was too much of a risk to have it.  Next time I will definitely have the test as soon as I can, and I’m sure they will look at chromosome 15 in the baby with a fine toothcomb.

So I guess despite all of this, my husband and I have to roll the dice and try again, no matter how hard it is.  It is very scary, but if I’m lucky enough to be rewarded with a Chromosome 15 Duplication Syndrome free baby that is healthy, as Carrie Bradshaw says in Sex and the City, well, that’s just fabulous.

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