Erm...Where to begin?
I went for my amnio about 3 weeks ago, out here in the wilds of the Iberian peninsula, and we paid extra at the time to get the quick/FISH results. Those came back 2 days later, whereby we were told there were no problems and we were having a boy.
....I must confess, up to that point I'd been a little ambivalent about this (accidental) pregnancy; we're going through some pretty dire financial straits, I've mentioned before my seeming inability to plan the birth I'd ideally want in this country, and my partner is older than I am (so that, with a run of bad luck, I'll be busy looking after him in the near future, never mind a small child), etc., etc., etc.. Also, I'd started reading Lionel Shriver's
We Need to Talk About Kevin, which is NOT a good book to read when pregnant, essentially being about giving birth to a monster. BUT, when we received that initial all clear, I think the both of us became really attached to the reality of the baby, and even finalised a name for him. It was exciting to be having a boy, too, as heretofore, I've only had my daughter. And I started to feel him move for the first time.
Last Thursday, the clinic called me up and read the final, complete results over the 'phone. Now, I was slightly in shock, and to be honest I don't think the lady reading the results to me was all that on top of the information either (some 'professor' of genetics does the actual lab analysis, so she was just reading to me the notes on the sample that he'd passed on to them), but, essentially, the baby does not have a normal karotype. She definitely said that there were 47 chromosomes, but I wasn't told the nature of the abnormality, nor which chromosome specifically is affected or if it's a partial or full trisomy or what (After much internet research these past 3 days, I'm leaning towards thinking it might be an extra marker chromosome. I'd still like to know which one.) . What she did say was that, as a rare chromosomal disorder, they need to establish if either myself or my partner have the same abnormality- the thinking being that if we do, and we're "normal", then the baby will "probably" be fine as well. Otherwise, there is the possibility of mental retardation or physical disability (I confess that I didn't have the wit at the time to ask her if she could please possibly BE ANY VAGUER). Anyway, I arranged to book the karotyping for myself and my partner AS SOON AS POSSIBLE, which turns out to be 2:30pm Tuesday. Rawr.
As you can imagine it's been a looooooooooong weekend.
Dunno. I guess I'm just feeling....deflated. I haven't felt like keeping up with my exercise routine since I found out and I haven't had much of an appetite either. I know there's nothing to do but wait until Tuesday, when I can get my grubby little hands on an actual copy of the results, do the tests, and go from there, but the waiting still kinda sucks and I appear to be dealing with it by sleeping as much as possible.
Sorry to have gone on for so long- I have a tendency to ramble at the best of times. I did try to post this on Thursday when I found out, but I got halfway through and experienced an internet glitch and lost the post (-and the plot, hur, hur) and didn't have the energy to start from the beginning again......I guess I'm just wondering if anyone else has experienced a different complete amnio result from the initial and problem-free FISH results (Googling would appear to indicate that this is exceedingly rare).
Or if anyone has any familiarity with rare chromosomal disorders- I have already discovered Unique
http://www.rarechromo.org/html/home.asp , which is proving to be a great source of information.
Stoically (I hope),
-Rosy