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not only but also
Week 8 - "Let us never do this again" 
30th-Oct-2008 03:51 pm
flaked
Well, that was one of the more unpleasant 48 hours that I've ever had.

Tuesday lunchtime, we got a call saying there were some results back from Hamish's heel prick test, and that he had tested as being at least a carrier for cystic fibrosis - he had not only some of the relevant enzymes but a genetic test showed that he had one of the common 12 mutations that cause CF. They had to do another test on Wednesday to clarify whether he had it on just one gene (and was therefore a carrier) or both (and therefore he had CF).

Liz went off to mother's group, but between the possibility of Hamish being pretty sick, and generally not feeling well, she wasn't dealing very well... which was capped by throwing up at the MCHN centre. Meanwhile, in Caulfield, I also wasn't feeling well, which I put down to a crap meal from the pub. I got a call to come home, and didn't mind too much. Within a couple of hours, it was pretty clear that we both had a bad case of gastro, shivering in front of the heater on full blast. Liz's mum came over and helped us with Hamish, who fortunately has skipped getting it. I ended up staying up that night for the early morning feeds to try and let Liz sleep and rest, so I got about 4 hours sleep on top of feeling like crap and being stressed.

Wednesday, we went in for the test to Monash Med, which basically involves running a current through his arm to make him sweat a lot, then measuring how much chlorine gets expelled in the sweat. Hamish hates anything that takes away his control[1] of his arms, so basically screamed for 10 minutes while being zapped. We kicked around at the hospital for a while waiting for him to sweat some, and then got blood taken ourselves to check to see which (or both) of us are carriers. No one else in either family has tested positive to even being a carrier, so its likely to only be one of us, but we wont find out for weeks as its a genetic test rather than the quick one he did.

By late Wednesday I was still feeling awful, so I went to bed not too late, and Liz handled the morning feeds. He spent all today being very rambuctious and not wanting to rest - I think its just wind, but we're both a bit over being kicked in the stomach as he wriggles about.

Fiiiiinally we got a call around 2.30 saying that he is only a carrier, and definately does not have CF.

So, if I've been a bit weird or inattentative the last day or so, I hope you understand why. I didn't want to really discuss it too much with people until we knew for sure one way or another.

Now we wait for 2 days of accumulated stress to fade away, and for the results of the gene test. If we both are carriers, it means that we'd have to take that into account if we want to have any more kids - 1 in 4 chance of being a sufferer in that case might be too high a risk.

In the meantime, more photos of cute

[1] by control, i mean "stopping him from constantly flailing them around aimlessly "
Comments 
(Deleted comment)
31st-Oct-2008 12:42 am (UTC)
Ya, it was not fun. As much as you can sit there going "90% chance of being ok, higher because none of the other kids have even been carriers", there's always that thought that someone has to be the 1% chance.
30th-Oct-2008 04:59 am (UTC)
*hugs*

That would have been a terrible experience for you all - I had a friend with CF and I can only say how happy I am for you that Hamish is only a carrier and not a sufferer.

*more hugs*
31st-Oct-2008 12:43 am (UTC)
:-( yeah, its one of those things that ruins everything slowly over time.
30th-Oct-2008 05:19 am (UTC)
I'm glad to hear he's only a carrier. Depending on how you feel about it, if you both end up bein carriers, you can get pre-natal tests done of CF, and if said fetus has it you can chose to abort it. But, as I said, that really depends on how you feel about that sort of thing.
31st-Oct-2008 12:44 am (UTC)
*nod* It'd certainly be something to check. Its also possible to get screenings during IVF, but meh.
30th-Oct-2008 05:39 am (UTC)
*hugs*
What a scary time.

It's always the not knowing that's the worst part. If they could say "yes he does" whilst it would be upsetting you could at least say "right, this is what we have to do and we can expect" and get on with your life.

All the best for your results, I hope it's not bad news.
31st-Oct-2008 12:45 am (UTC)
Yah, Liz gets that way too - its the waiting that kills her.

90% good news - it just gets weird if we're both carriers and want more kids.
31st-Oct-2008 12:52 am (UTC)
You'll just have to invest lots of money into genetic modification....

Then you can have Hero babies that can fly and create nuclear explosions with their hands!!
31st-Oct-2008 12:53 am (UTC)
Man, if i had lots of money, I'd so be doing that. This is the future, where the hell is my genetic manipulation.
30th-Oct-2008 06:06 am (UTC)
Hugs to all three of you. I'm glad all is well in the long run, even if the short-term is icky.

Get well soon.
30th-Oct-2008 07:03 am (UTC)
*hugs*
31st-Oct-2008 12:45 am (UTC)
thanks - there were lots of hugs when the all clear call came (well, mostly clear)
31st-Oct-2008 12:45 am (UTC)
ta...
30th-Oct-2008 08:31 am (UTC)
Thank goodness all is/will be well! Gastro all done I hope?
31st-Oct-2008 12:46 am (UTC)
Minor aftershocks, but we seem to be over it. The shivering/fever broke in about 6 hours...
30th-Oct-2008 09:00 am (UTC)
*hug* I'm glad he's ok.

Of course, you'll have to have every girlfriend he brings home genetically tested to make sure she isn't a carrier as well :-p

He'll love that ;-)
31st-Oct-2008 12:47 am (UTC)
*giggle* given family tendencies to marry second cousins or something, I think some genetic testing is not a bad idea ;)
31st-Oct-2008 12:47 am (UTC)
What an ordeal! I'm so glad he's OK! Hope the de-stressing progresses quickly.
31st-Oct-2008 12:51 am (UTC)
There was a distinct *TWANG* sound after the call yesterday, yah.
31st-Oct-2008 02:47 am (UTC)
My heart went cold when I started reading your post. It'll remain lukewarm for the next couple of months until it passes the point where we should have heard if there was anything to tell from Chloe's heelprick test.

I'm glad you're out of those two hellish days and all are well again.
31st-Oct-2008 02:49 am (UTC)
Sorry, I tried not to make it bad like that!

A lack of any family history helps I think - although its a recessive and can bounce its way down generations invisibly, if you have a good idea that no cousins or anything have come up with it, its a reassuring sign.

Yesssssssss. Me too. Now to get through another hot & humid Sunday coming up :)

Hope you are dealing ok at home :)
31st-Oct-2008 11:00 pm (UTC) - *HUGS*
Wargh, that musta been a hell of a few days, but am v glade it turned out ok *HUGS*
31st-Oct-2008 11:44 pm (UTC) - Re: *HUGS*
meee tooo. Thank for the thought & hugs :)
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