Tag Archives: G6PD deficiency

You might be an autism parent if….

6 Aug

You might be an autism parent if...

You put chocolate hazelnut butter in the nutribullet to smooth out some of the natural graininess to make it more palatable for your texture-sensitive kid.

(Note:  this experiment would have worked a bit better with a larger amount of this tasty stuff.  Unfortunately, I didn’t even think of getting him to try it again until I had polished off almost the whole jar. It’s not like I went weeks without that occurring to me.  A jar of Justin’s Chocolate Hazelnut blend only lasts a couple of days, at most, around here. It’s irresistible. Really. Our supermarket and Target both carry it, and the Maple Almond (so good on cinnamon toasts). You can also find it on Amazon: Justin’s)

He did ok with the Chocolate-Hazelnut, on warm toasted baguette, but not that enthusiastic.  He did eat three pieces of toast (small pieces) slathered with it, though, and that’s freaking amazing.   I also got him to eat three (individual raviolis) Amy’s frozen Ravioli even though they clearly had some degree of tomato sauce on them (I scraped off as much as I could. How am I the only person in our family who has zero Italian roots and I’m the only one who will touch a tomato, or sauce?!).  YES!

I’m still finding protein and fresh veggies to be a challenge for him, as he won’t eat nuts (Barney Butter thankfully is smooth enough, and available at Publix and Target(woohoo!) that he accepts it as a peanut butter substitute, as PB is off our menu due to G6PD Deficiency), can’t eat legumes (again, G6PD Deficiency is a factor) and he is mostly vegetarian (we are not, but he just can’t deal with the tearing and chewing of ANY meats), so he consumes quite a bit of milk and I make him a super-smoothie every couple of days with bananas, berries, hemp seed, almond butter, chia seed, yogurt, etc..to try to get at least some variety, as far as nutrients go, into him. He also really likes Life cereal and Cheerios, so at least those are fortified. He is growing and healthy, and the kid has a brain on him, so this seems to be working. Of course, I’ll never stop introducing new foods to him and now that he is older, he doesn’t protest but instead tries everything (serious progress!), so it is easier.

You can share your “You might be an autism parent if…” moments on two fantastic facebook pages:  You might be an autism parent if. and one of my favorite special needs parenting resources/communities:  Shut Up About Your Perfect Kid (seriously, if you don’t have the book, you NEED their book AND their Facebook community/page.  This was the first thing I read when I realized that this journey was veering way off path (and at the time, through what looked like an impassable thicket, plenty of prickers, nests of dangerous beasties, etc)…  Here’s a link to the book on Amazon: Shut Up About Your Perfect Kid: A Survival Guide for Ordinary Parents of Special Children.

I also got him to eat fresh cherries (not fresh picked, fresh from the supermarket… we have been mostly housebound this summer… long story for another time) WITH the stem and stone intact!  So I’m not rocking the Lady Macbeth manicure from pitting the damn cherries this go around.  Here he is, after I carefully demonstrated and gave him instructions on how not to break his teeth but still enjoy a good, sweet, juicy cherry.

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A frozen cherry did not fare as well:

Found it.

Peace,

Bek

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

Giving Thanks: Alex’s Feast!

27 Nov

As far as Thanksgiving specifics go, I am thankful for so very much, but especially this drawing that Alex brought home from school.

The kids had to draw their ideal Thanksgiving Feast.   I’m sure most kids would put the traditional “Turkey Day” fare, but this is Alex’s design for the menu of his perfect Thanksgiving.

Why am I so grateful for this particular drawing?  It took so much pressure, and potential criticism, off my shoulders.   Alex and I cannot eat the Publix prepped bird and sides that my mom has gotten for the past few years.  I also don’t trust most of her cooking as she tends to forget that most things like “broth” (for example) are not singular ingredients and if we ignore the labels on packaged foods we can wind up in deep doo-doo (as I found out last Christmas and wound up missing most of Christmas Day because I was too sick to even move).

So with only the two of us requiring special foods, and Alex not being a fan of any turkey except low-sodium Public deli turkey breast (and then he only seems to like it if it is given to him over the counter as a “taste”), I let out a big sigh of relief.  This year, with my current level of fatigue, I did not have to brine and baste a turkey breast in the oven.  I did not have to make stuffing and sweet potato casserole from scratch.  Sure, I would have loved some roasted turkey that I could safely eat, but this fatigued state I’m in has also adjusted my appetite to next to nothing (I’m chasing my low blood sugars and adjusting my pump pretty constantly).

I prepped and chopped all of Alex’s menu items, and packed them bento lunchbox style and brought them to my Mom’s house.

He ate raw carrots (sliced into long planks), cantaloupe, bread (the express bread recipe that came with our bread machine tastes kind of like Carrabba’s bread when warm), herb dipping oil for the bread, american cheese, fritos (I forgot his garlic mill at home, but he was cool with it as he had specified that it was “optional”), deli turkey, and ice cream (though cookies and cream was specified, we couldn’t find any so he had Hagen Daas Chocolate Ice Cream.  My dad even picked up a pint of it, so we had extra ice cream.  You should have seen how wide Alex’s eyes got when he saw a freezer shelf with only ice cream that was safe for us to eat.  He promised he’d let me have a taste. Such a sweet kid.

I also took a cucumber and used the peeler with the little cross blades.  I ran it along the length of the cuke and it made long cucumber “spaghetti”…. I also made a tiny little batch of very light pumpkin fettucine and a few loaves of my crusty cheese bread (my mom requested it).   Alex ate a nibble of the cucumber and a nibble of the fettucine.  I was so proud of him for at least trying them.  The fettucine didn’t seem too pumpkiny in flavor.  I think the pumpkin, without the benefit of nutmeg or cinnamon, really brought out the eggy-ness of the pasta, even though I really just substituted a couple of tablespoons of pureed pumpkin (I’m still working through the case I bought from Amazon.com last year!) for one of the eggs and used a bit more semolina.  The color was fantastic, but he wasn’t thrilled with it.

It was nice to see my parents and Uncle Richard, and to meet my parent’s friends from their community.  Alex ran through his iPad battery fairly quickly, and then he occupied himself by playing with Gizmo (my mom’s “baby”  Brussels Griffon rescue… He’s around 3 and such a sweet pup)…

I’m thankful that the day was fairly uneventful. I do wish that I had my appetite and the energy to cook a feast again this year.  Maybe next year….

Now for the winter holiday season…

I’m going to take a nap first… Hope your Thanksgiving was mellow, happy, and low on conflict!  :-)

xo

B

 

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Choco Chex!

19 Nov

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Ok they don’t look all glam and pretty, but at least we can eat them! Rice Chex tossed in melted Enjoy Life chocolate chips (soy free!)… So crunchy and tasty.

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