Tag Archives: anemia

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

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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The Event.

2 Oct

In my last post about my challenge in getting my rheumatoid arthritis under control, I announced that I was stopping methotrexate and continuing on with the Plaquenil…

Well, that lasted around four weeks.

Four weeks off the methotrexate and BAM!  Labs went zooming back up, way past my previous levels of inflammation… The pain got much worse, my eyes got all blurry and irritated again.  So I went in for my RA visit and the doc asked how I was doing.  I reminded him that I had stopped the methotrexate and he said “You mean that you stopped the Plaquenil, right?”  and I corrected him…  As it turns out, my labs turned up something interesting.  Ok, interesting really isn’t the right word.  As it turns out, my labs were the first step in what would become a monumental event.  Perhaps you have seen commercials for it on NBC.  It’s called “The Event”.

Yes. I am joking about the NBC thing.

My monumental event, or rather series of monumental events, are bigger than that show (though I must confess, I am enjoying NBC’s “The Event”) and the impact of the discovery that was made through that one little blood test has changed my life, and my family’s life, forever.

The little blood test was for a G6PD level and my rheumatologist tacked it onto my usual blood work as he had recently started me on Plaquenil.   When I had the test, and when he informed me that I had to stop the Plaquenil immediately because I have G6PD deficiency, I will admit that I knew next to nothing about G6PD deficiency.  All I knew was to stop the Plaquenil.  He wanted to start me on Cimzia immediately so that I would hopefully see some relief from my RA symptoms (which were totally kicking my butt as far as fatigue and pain go).  I mentioned that I have a swollen lymph node and he called off the Cimzia and told me to see my primary or a surgeon to have it biopsied in case it is a lymphoma.

A lymphoma?  No panic. RA puts me at a higher risk for developing lymphoma.  So I called my primary doc when I got home and they saw me within the hour… I gave them copies of my labs, pointed out the G6PD stuff, and left with a course of antibiotics to see if the swollen bit was an infection or if we had to go cutting me up.

A few days in and I felt like crap…Shortness of breath, more fatigue… I read up and that is when I started to learn the truth about G6PD deficiency and how much of my life it had already impacted and how to prevent further near-death, permanent damage causing experiences.

I learned, in that first week, that I would have to educate my primary care doctor, as in that very first day he prescribed an antibiotic that is contraindicated in people with G6PD deficiency.  They did prescribe a new antibiotic, and the swelling did decrease and nobody seems concerned about it anymore.  I should be starting Cimzia as soon as the insurance approves it for self-injection (they did approve it for injection by a nurse, but they would only allow it if I went to a cancer center 45 minutes from here… HA!)

Little did I know, in that first week, that this one little enzyme wasn’t just a key player in the functioning of the human body, and why mine had malfunctioned so many times along the way, but my sudden, new awareness of it would save a life, potentially save other lives, and bring a confusing and abrupt end to an important relationship, that has brought me clarity, as painful and perplexing as it is to accept that.

So we have been having more drama than any TV program… And in the next few entries I will share the mystery, the miracle, the pain, and the triumph.

For now though, I must sleep.

xo

Bek

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