Tag Archives: hemolytic

No Beans About It.

20 Jul

Fantastic article on G6PD Deficient patient diet suggestions.

I am a person with G6PD Deficiency (and female so I got my mutations from both genetic parents, which is a little more rare as far as probability goes, but not as rare as once believed.) I am raising a son with G6PD Deficiency and doing my best to not have him endure the oxidizing damage due to contraindicated substances that I have endured in my lifetime. I am hoping that by spreading the word and correct information regarding G6PD Deficiency that awareness will smother ignorance and stupidity that seem to come into play all too often.

Historically, it has been considered a disorder mostly of everyone but white females (and men, but men have been more widely studied and they only need one affected X to be fully deficient…) Women, need mutations on both x’s (one from each parent) to be considered deficient so we are less likely to be fully deficient, and more likely to be partially deficient, meaning we have one x with the affected gene instead of on both x’s. Once upon a time, the term carrier was used but the term partially deficient is coming into vogue as for many women, due to the particular variant or due to lyonization, it is a more accurate description. Of course, as is the case with many disorders that are believed to either include or exclude a particular gender, race, or geography, it is revealed that the excluded race or gender was never really studied, due to many circumstances, but it really is starting to look like an unfortunate tradition that has killed and injured so many people just because they didn’t fill the prejudicial mold and were believed to be categorically exempt or that it was an incredible rarity.

As it turns out G6PD is not as rare as once believed, particularly in females. G6PD Deficiency is one of the top 5 genetic disorders of pre-natal origin causing 26% of global common birth defects.

It is real and it goes beyond avoiding fava beans. The website G6PDDeficiency.org is a phenomenal resource on many aspects of G6PD Deficiency, including handy lists of contraindicated medications (don’t assume your doctor knows what is safe. Check and double check. I have found that a good pharmacist is worth their weight and seem to have a better knowledge of contraindications, but still I would check and double check and check again for good measure.

The article/page I have linked to, below, offers an excellent rundown of how we do need to be vigilant about what we put in our bodies, as there are different degrees of deficiency just like there are over 400 identified variants of this particular enzymopathy.

Why G6PD Deficient Patients Should Avoid Legumes.

I’ll post more about our experiences living with G6PD Deficiency as I get around to it. Awareness does seem to be growing in the USA. I was thrilled to see that the writers of the USA Network’s “Royal Pains” included a female patient they eventually diagnosed with Favism/G6PD Deficiency. I was even more excited when they suggested testing her young daughter due to the hereditary nature of the disorder. It was really fantastic to see awareness of this disorder and that it can impact females, as well, raised in entertaining “Royal Pains” fashion. Pretty great.

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. 

G6PD Deficiency Newborn Screening Petition

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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