Sunday, 29 January 2012

Mixed Emotions

It is true.

I stopped writing the blog. Honestly, I stopped hitting publish. My draft folder is full.

2011 was a horrible wonderful year. Mostly though I was stomped in the face by it. It has been hard to get up.

Last Spring Isaac was diagnosed with 22q11 deletion syndrome, also known as (Partial) DiGeorge Syndrome.

Go ahead. Look it up. I did. If I thought the lab test mishandling during the pregnancy was bad, the slam down of being told this and looking it up....I have no words. And that's why no blog.

Worry was my mantra. That's a hard word to breathe day in and day out. So we started the rounds of tests to find out how 22q has settled in his body. Renal ultrasounds- check- he has both kidneys. Echocardiogram- check- his heart is perfectly formed and functioning. Immunology doc was a total jerkwad and even though he SAYS all the results came back perfect, he wouldn't hand them over to me. That's a whole story of its own.

So we went to Minnesota to a Children's hospital where they know about 22q and they actually treat the patients and Mamas with respect, like a partner in patient care.

So far, the only thing we can find is that his motor skills are slightly delayed and he's slightly low on insulin growth hormone factor. Even that low is still in normal range. He's little. 5% range. But he's a funny little dude. And so happy! And I am only 4 ft 10 inches, so being little is genetically possible.

And he's deaf. How deaf we do not know, other than Moderate to severe hearing loss. We have a test next week to determine extent and fit for hearing aids.

I struggle with sharing his story here. I struggle with opening up my child's medical file for the world to see when he has no say in it. And if I start getting more readers? My life as a reality show via blogger?

But what if people started hearing our story? Started advocating for their own care? Saw how beautiful children with genetic anomolies are? Prayed for us, prayed with us? I don't think we even shared his diagnosis with our church. I have totally turned in. Many of my friends don't even know.

I'm just not settled yet. I don't want to get attention for his medical condition and struggles. That's not fair to him. I know because I grew up with seeing that played out and how that can feel. Not cool. But there are other families out there, moms who feel as alone as I do at times, struggling too.

Tonight in one of the online support groups I found, a particular thread caught me off guard. and I ended up sobbing again. I'm up until 3am most morning and up again at 7am. Working these days on 4 hours of sleep. I'm here, but not really here for any of my kids. Caught on the phone with specialists, researching medical articles, traveling......or even just thinking and reflecting about it. Then on the floor doing physical work with Isaac. Praying that he catches up. Praying that the doctors will leave us alone, that someone will say it was all a mistake, another lab mix up.

Then grading papers, farm chores, selling pork, paying bills, keeping house, laundry, dishes, cooking.....

And at the end of the day there is nothing left of me. So tired.

Just watching the baby sleep can send me into tears. He's so perfect. So sweet. So happy. But he has this 22q11 dna sequence that has parts missing and that means something. But what? How will it show up? Why can't we find it? Not knowing is so hard. So grateful that the big pieces are ok, heart and cleft and thymus, but something is missing and we don't know what.

Tuesday, 17 January 2012

SOPA and PIPA are huge obstacles to the continuation of free speech and a free press. It's clear that the politicians supporting them have no idea how the fundamental pieces of this legislation will effect everyday life on the Internet. It's not about piracy - it's about greed and control.
This link has a good example of how law abiding web sites would be shut down by this legislation -

Lots more information here - they've been following this story for a long time.

Thursday, 12 January 2012