Tag Archives: genetic

Rare Disease Day Festivities

1 Mar

Whooo has a rare disease?  

I do. It’s not really that rare in this country, it’s just that we don’t routinely screen parents prenatally (they didn’t check for it in the two rounds of genetic counseling I went through, having nearly zero family medical history, and hahahahahahhahahah, of course I have mutations from both sides of the gene swamp.  The universe is a $&@!ing comedian.) and worse, only two states in the US routinely screen newborns.  For the love of Pete!

This is wrong wrong wrong wrong wrong.

So, here’s how we can make the medical establishment pay attention (that isn’t as likely to get us hauled in like my previous plan to flash my pale, porcelain white boobies while holding up an anti-legume placard to illustrate that not only darker skinned males, but also pasty females, can have this disorder. Don’t fret, my dears,  I’m not flashing anyone (not on purpose, anyway. Sorry about the other day, new neighbors across the way).)

In honor of all of those living with Rare Diseases, please (PLEASE PLEASE PLEASE PLEASE) consider signing the petition over at G6PDDeficiency.org.

Dale Baker, the force behind the site and a lifesaver, is collecting signatures to present to hospitals and physicians to super-emphasize what all of us know, that routine newborn screening will save lives.

It will take you just a minute, but it can save lives and make all of our communities healthier. After you sign, or even if you don’t sign, please consider tweeting a link to the petition or this blog post. Awareness is powerful. Thank you. Thank you.

Thank you.

You are the best.
G6PD Deficiency Newborn Screening Petition

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Red Blood Cell vs The Bad Guys

4 Oct

Yee-haw.

Ok, not really exciting. Or at least not exciting to most of you… I was trying to explain to Alex what happens between exposure to a trigger substance and the hemolytic anemia part of G6PD Deficiency.

So I told him that the bad stuff makes them explode.

That got his attention.

Eventually, he’ll know the scientific terms for the process, but the idea of cells exploding and making him feel sick is enough to keep him hyper-vigilant over what is safe to eat.   Of course, being my sweet little hyper-focused Aspie with a splash of OCD in there, he triple checks everything that I (a hyper-focused Aspie with obsessive attention to detail) have already quadruple checked.  I told him that I would not put anything in his lunch box that is on the “bad stuff list” and he came home twice that week with some lunch items uneaten because he had questions about the ingredients.  I reaffirmed that I am staying on top of it, but at the same time I am enormously proud that he is this committed to protecting his own health.

Anyway, above is  a picture he drew in his school journal this week, and here is the text that accompanied it…

More on our adventures with G6PD Deficiency coming soon…. The best page I have found, so far, as G6PDDeficiency.org.  There are plenty of general info pages, and a couple of information sites, but I find G6PDDeficiency.org to have the most real life information that doesn’t rely on the stereotypes promoted by early research (important research, but one that prevents diagnosis, in my opinion, when it is the only very incomplete version being passed around to this day).

xo

Bek
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