About two weeks ago my little niece Meera, the first 'next generation' child in our family, was born.  She was screened for a standard host of maladies and the genetic test result for cystic fibrosis came back positive.  Meera needs to have TWO bad genes on chromosome 7 to actually be sick with the disease.  Right now, best case scenario, she is just a carrier of the mutated allele.  Worst case, this little baby will die by her 20's-30's from respiratory failure.

The reading I've done in the past 10 minutes has told me that she would have to have a pair of damaged alleles in order to be sick with CF.  The chances of this are more low than I thought.  If both parents are carriers, there is a 25% chance she will be afflicted with CF, and a 75% chance she will live a healthy life.  She might still be a carrier, but worst case scenario if Danny and Emily are both carriers for CF, there is a 75% chance that she is just fine.

If one parent is a carrier, the child is 50% healthy and free of disease, or 50% a carrier, but will not suffer sickness as both genes must be mutated in order for the sickness to occur.

In other words, cystic fibrosis runs on the same odds as getting blue eyes does in your family.  It requires two recessive alleles on the genes in order for the trait to display itself.  In the picture below, gender has nothing to do with chances -- it is strictly a mutation on chromosome 7.  In this diagram, both parents are carriers.  I'm crossing my fingers only Dan or only Emily are carriers.  This would mean Meera is a carrier, but will not suffer CF.



I'm really just sick with sadness.  There is some bright news:

Some common things attributed to CF babies, Meera does not have.  She does not taste 'salty', which apparently was the old way, back in the 1920's, of diagnosing CF.  Also, 20% of CF babies require surgery to remove the maconium (baby's first bowl movement), but Meera passed hers on the first night and seems to be healthy in that aspect.   Her parents are worried the vomiting (and coughing thereafter) is indicative of CF.  I'm hoping its indicative of gastric reflux and they just need to keep her upright after a breastfeeding.

Children's Memorial is going to do a 'sweat test' where they apply a chemical on her arm and run a low level electrical current through it to produce sweat.  (Yeah, I thought that sounded a little barbaric too.)  Then they collect the sweat off her arm and analyze the ratio of salt to sweat.  If the levels are unusually high, it indicates Meera has CF.  I'd rather they do a simple blood test on trypsin (Meera would have elevated levels of this protein if she had CF.)   Unfortunately, the earliest they will be able to get her in for this test will be Monday, so Danny and Emily are going to be sick with worry the entire weekend.



Update:  Meera's mom tested negative for the mutation.  Technically, the mother could still have a mutation that the blood test didn't register, as the test only scans for the most common mutations, but it more likely indicates my brother (and his family) have this slow-painful-death-sentence gene lurking somewhere in our genetic code.  The good news?  If Emily is truly negative, there is absolutely no way Meera will have cystic fibrosis, as the disease requires two bad copies (one from each parent) in order to exist.  As a carrier, Meera will still live a healthy life.

This morning was kinda rough... I had such high aspirations earlier this week and it seems like I have short-term memory about wanting to lose weight, because it seems I just go la-la for 2 days and then remember, oh yeah, probably shouldn't have eaten such and such.  Anyway.  I was in B&N looking for something to boost my morale, and I'm trying this thing calle dthe 6 day body makeover.  I've eaten one meal from it and already feel blah.  Well, not about the program, just about my diligence.  But.  It's 6 days.  I can do this.  I can do this.  The book reccomended longer fat burning periods, so Im' going to go set up the Wii ddr and have fun.

~Kim

Okay, so, I've had a heck of a week the past three weeks, and considering I haven't weighed in for three weeks, it's rather miraculous i didn't gain more than 3 pounds.  I really thought I was losing for a bit, but I knew I ate excessively at Clare's party, lots of dips and brownies and cupcakes, ooo, cupcakes. 

Anyway.

Despite the gain, I am still quite motivated and feel there is a lot of good I have done.  I told Dawn (the leader @ WW) that I have made meal plans and gone shopping for food, which is something I would not normally take the time to do.  I also wonder if the fact that I ate a physically heavy dinner tonight (burrito at Qdoba with beans and peppers) might have tipped the scale, in addition to the fact that I drank about 25 ounces of water to try to flush it out, (but my kidneys didn't pee anything out by the time I got to the meeting).  I'm sure the meal and the water played a factor in my weight.  Still, here are some good things I've accomplished since I was last at a meeting:

I've invested time in my own health and actually started exercising at home.
I went back to Hapkido yesterday, and to show I meant it, I paid $300 cash.  I only owe another $350 until my tuition is entirely paid.
When I went to Hapkido, I went at a pace that was sustainable for me.  For my previous healthy self, it would have been a waste of time, but for my current out-of-shape self, I appropriately treated my body.  When Master Chang said high kicks, I kicked one as high as I could, and the rest of them I just kicked chest height.  I feel like I still have to ... make explanations to myself, as to why its OKAY to take things at an appropriate level.  I just keep reminding myself, I can't workout at my previous level, but if I keep working out now at a medium pace, I will establish a rhythm of attendance, ease my lungs back into oxygen-endurance (so i dont' have to wheeze from asthma), and not pull muscles, only to be sidelined again.  This is one of the hardest things (taking it an appropriate level) I think I'm doing now.  Truly, harder than WW, because:

WW isn't that complicated.  I just have to be consistent about it.  These were my thoughts as I was dressing this morning.  I just need some consistency.  You know, like... how Bella needed consistency with training.  I have come up with some consistency with my morning wake-up routine (or maybe its just more logical movement as opposed to unthinking bumbling), so I think if I have some consistency with accounting points, I 'll be okay.

Today, Meera's Daddy (my brother!  Gah! how weird!) showed he had a chart where he writes down which side Mommy nurses her and for how long and when Meera pees and poos --  pretty much this entire infant's biological life is being charted.  It's sweet, but they're not doing it for scrapbooking; this is how they monitor baby and mom's health.  For me... journaling is really no different.  I need to keep track of food groups and calories/points and exercise.

So at the meeting, I asked Dawn if she would be willing to look over my points chart, of what I've eaten, if I printed it out off of WW.com, and she said, yes, just come a little early and let's look over it.  I said, maybe there's combinations of foods that are wrong for me, and sometimes, it's just the fact that 7 days is a LONG time to keep motivation running.

Right now, though, with Vegas coming up, 7 days seems like too short a time.  I wish I had a couple more weeks of time to make a dent in this physique.  Suddenly, I find that everyday, I WANT to eat healthy, and I WANT to squeeze some activity in so I can mark it down on a calendar, because everyday is an opportunity for me to do some good. 

When I originally started WW, I did feel like... nothing I do will make a difference.  But, I can tell you from working out with my DVDs, and even just yesterday at Hapkido, I feel like I AM making some strides back towards healthiness.  I can tell when I can run for the hell of it -- sure its only 10 seconds long, but I can make my body RUN.  Before, I couldn't.  Pain in my shins and knees stopped me.  Now, it's an option again.  That shows progress.  Or how about that I'm willing to actually cook eggs or make a meal whereas before I jsut wanted to eat out?  I wake up in the morning with ENERGY, how's that for progress?  I started to think about my future again.  Woah.  How's that for progress?  And not just because of Meera... about what I want out of my life.  I want to work at home teaching piano lessons.  I want that because I love piano and it's always where I have felt most at home.  It ... brings me balance and center.  Why am I dieting?  Because I want to wear nicer clothes -- so I can feel more confident -- so I can go out and play piano.  It's always been about the music, about the musician, about the composer and the artist and the dreamer.

And just to show it, as I came home from my meeting today, I saw it was 7:40 -- just enough time to go for a swim in our pool.  And it was a SWIM.  Breaststroke and frontstroke, jogging in the shallow end and doing laps.  It was great.  I feel amazing right now.  :)  And I'm really excited, because I think with the accountability of having to show my points week spread to Dawn, I'll do a much better job.  Her speech tonight was about how sometimes we need a shot in the arm.  I think this will do nicely :)

Kaybee

I gotta stop looking at myself as the odd one out, start believing in myself, and start erasing the soundtrack they put in my head since I was little.  Start erasing, start replacing.  What other way is there, to restart the mind's confidence and esteem?