January 16, 2013

DANCE WITH THE DEVIL part 1 of 3

D0 you ever find yourself stopping dead in the middle of a conversation with a friend and having no clue as to a) what you were talking about or b) what you were going to say?  I do.  And sadly, it happens a lot.  I used to worry that it was early onset Alzheimer's now I just blame it on motherhood.  I also have a hard time sitting still and staying focussed on the task at hand which is precisely how this trainwreck of a blog reads.  One minute I'm hi-hoeing my way off to CF Clinic and the next I'm making an ass of myself in the pueblo.  So to set the record straight, Life in the Pickle Jar was born out of desperation.  Sorry, but there was no altruistic intent to connect with others who were dealing with Cystic Fibrosis.  If you've ever dared to wade through my early posts you'll see a woman on the verge of unravelling or hell, maybe I was unravelling.  Point is,  I was scared out of my mind; in a full-on blind panic, my mouth wide open and a scream so shrill only wild dogs could hear me.  It was a desperate place, a desperate time and this blog some way some how, became my outlet.

Then, in the midst of it all, there we were, packing up to get the hell outta Dodge.    We launched our little family across a big, blue ocean and started to settle into life all over again.   I  made a conscious decision to covet the 24th hour of the day for sleep, not worry and definitely not fear of the unknown.   And surprisingly,  the world didn't fall apart as I feared it might.  Actually, if you really wanna know, nothing happened.  NOTHING.   No cough.  No pseudomonas.  No funky cultures.  No phlegm.  No greasy stools.  No tummy aches. Nothing.  Piecing it all together, four years of nothing is a lot of, well, nothing. Don't get me wrong, we were still doing our vest treatments twice a day with the inhaled bronchiodialator.  And we made it CF clinic for our quarterly visits like clockwork.  But now I was starting to feel a little unsettled.   Why were the kids doing so well with this killer disease?   Were we missing something?  It weighed heavily on my mind but not enough for me to change anything.  I was just thankful that we were still flying under the CF radar.

So fast forward to last year when while surfing the internet as I usually do because there's only so much Spanish Wheel of Fortune a girl can take, I came across this link put out by the Cystic Fibrosis Foundation and John's Hopkins University.   It's basically a one-stop-shop database of hundreds of CF causing mutations.  Exciting, right?  Well for me it was.  Three of the four mutations that the kids have are pretty rare.  That, coupled with the fact that they have not two, but 4 CF causing mutations is like winning Publisher's Clearinghouse Sweepstakes.  Anyway, my interest was peaked so I started to dig up what I could on each of their mutations.  And not even five minutes later, my heart was in my throat. 

R74W
This mutation has varying consequences.
Some patients with this mutation, combined with another CF causing mutation, have CF.
Some patients with this mutation, combined with another CF causing mutation, do not have CF.

Come again, son?   Blah-blah-blah-blahblahblah-blah with this gene do NOT have Cystic Fibrosis.

Oh, but wait, it gets better.

D1270N
This mutation has varying consequences.
Some patients with this mutation, combined with another CF causing mutation, have CF.
Some patients with this mutation, combined with another CF causing mutation, do not have CF.

And they say lightning doesn't strike twice.

After a few hours worth of reading through the site...okay, that was bullshit on my part, it was more like 45 minutes of reading and 2 hours of walking around, biting my cuticles (yes, and I bite my nails too if you must know) and thinking Oh.My.God.  Oh.My.God until Joe got home.  Was it possible, was there even the slightest chance - or even just half a chance, that these two mutations, two of the four that I've sworn up and down and any which way that I'd annihilate if given the opportunity, weren't killing Charlie and Lola but saving them?   My mind was racing, yes.  But my heart...well my heart was ten million miles ahead of my head and picking up speed.

1 comment:

  1. I think you're the best parent I know. I love you.

    ReplyDelete