Tag Archives: genetics

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

Across the (autism) Universe…

8 Oct

 

 

 

Parenthood Arrays the Bravermans Across the Autism Spectrum | thAutcast.com.

 

I love this.  theAutcast.com explores how autism really exists in families.  Fantastic graphics explore how the 1 in x many is not black and white, but rather shades of gray (or blue, in this case)…

Beautifully done.

Check it out.

xo

B

p.s. I was sick yesterday and we had a lovely family dinner, this evening, with one of my favorite people, who we rarely get to see.  More later today…

Genes aren’t always comfortable.

3 Oct

It’s a fact of life:  genetics play a large role in some of the events in our lives.  If you are lucky, you never notice any of the blips or omissions.

Well, I am not so lucky.  G6PD deficiency is an x-linked genetic disorder. What does that mean?  Well, it means that most likely both of my biological parents have the gene, as for a female offspring to exhibit the trait she usually needs defective information from both maternal and paternal sources.   Boys only get the one “X” from their mamas, so if the Mama in question has G6PD deficiency, that means her sons will have G6PD deficiency as well.  (click here for a handy inheritance breakdown).

Needless to say, when I realized the genetic link we hauled ourselves over to Alex’s pediatrician to report my diagnosis and get orders for bloodwork to see if Alex does indeed have it.  At that point, we figured I was deficient, but we didn’t know if I was partially (a carrier) or fully expressing deficiency.

Of course Alex’s test came back showing G6PD deficiency.

Deep breath.

We had a weekend to wait for the results of the test, so I started making a plan of how we would remove any triggers from Alex’s world, as I had already removed many from mine.  How would we make this huge transition easy for him, to avoid self-injurious backlash on his part.  I almost consider it good fortune, that I have been through major lifestyle changes due to medical issues (particularly type 1 diabetes, planning a pregnancy with type 1 diabetes, and being pregnant with type 1 diabetes) in my lifetime, and I definitely had a few footnotes jotted down in my memory about what worked, what helped, and what derailed any progress or screwed with my ability and desire to stick to any of the previous restrictions and demands.

Lucky.

HA!

This isn’t lucky.  This just IS.  It’s genetics. It’s nothing that we can control.

It should have been caught earlier, in Alex and in me.

Some of the impact on him has been neurological.  Some of the impact has been structural.  All of the impact has made his journey so arduous at such a young age.  It is unfair. All of the impact has been accepted over the years as it seemed unavoidable and that dragging our feet would have caused more damage.  I feel like I failed him, like I accepted too quickly, even though the reality is that questions had dragged on epically, without chance of answer or just a chance of helping him.  Not curing him of anything.  Making his life better.

The reality?  If we had known sooner, the past few years would have been more manageable, easier.  Not just because of the impact this has had on Alex, but because of the way I have not been able to give his special needs the attention I need and want to give to help him have the best life possible.  I can’t kick myself for being sick.  It truly is not my fault. I try to accept that as best as I can.

It’s heartbreaking when Alex approaches me a couple of times a day and tells me “Mama, you used to feed me that (food that is off limits with G6PD deficiency…more on that tomorrow) it was making me so sick and we didn’t know. Why did we not know? I ate that so much. We didn’t know. It’s strange that we didn’t know.”

He wants answers and so do I.  I want to know why this was never mentioned or tested despite obvious symptoms and why prescribed precautions in situations where the status of G6PD deficiency is not known were not followed.

If it had just been me, I perhaps could let it go a little easier.  Actually, that is not true.  This has impacted Alex doubly because I am his Mama and for his seven years on this earth, he has learned to adapt to my abilities and disabilities and he shouldn’t have to do that.  He should have had a carefree first 7 years, with a well Mama who could play with him and wasn’t stuck in bed for two years.

He shouldn’t have been born early.  He shouldn’t have been subjected to excessive stress in utero because nobody bothered to test me before giving me a medication that could have killed me but my little guy absorbed some of the stress.   He shouldn’t be an only child.  The past 7 years of challenges and fatigue and illness put a logical block on having more kids.  Now we find out that this block should have never needed to be placed in our way.   He shouldn’t have been put through a zillion challenging medical tests and exams before the end of his first year without them first testing for the most common enzyme deficiency in the world.  When he wouldn’t keep anything down, soy formula was one of the only things that worked with any regularity.  We didn’t know we were feeding him a major trigger that would slow down his growth and development.

I should not have gone blind from cataracts at 20.  But I did.

I should not have been given contraindicated antibiotics that almost killed me when I was coming out of a coma with a massive bone infection.  I shouldn’t have been given 3 more medications that are contraindicated to combat the negative effects of the initial antibiotic, for sepsis that I was much more prone to because of?  Any guesses.

There are links being researched that link some expressions of this deficiency to autism, type 1 diabetes, and more.

I am angry.  I had a moment of realization that had me sinking into a thick sadness on the day Alex’s results came in, but I was glad we had answers.  The sadness came from the realization that all of this pain and injury and illness could have been avoided if someone I have never met spoke up,  if accessing adoption records and family medical history was not virtually impossible for bastards like me (see Bastard Nation), and if medical professionals did not see “adopted” in the space where family history goes as a clean genetic slate.

And if someone had ordered a simple blood test when the symptoms were obvious.

All of this could have been avoided and we would be healthy, and perhaps more innocent and less physically scarred.

I’m sick of saying that what doesn’t kill me makes me stronger.

Because someone knew.  And this almost killed me and my kid and someone charted this course we are on and gave us less of a chance at thriving than we deserve.

What is getting stronger is my anger.

And Alex.  Alex is getting a little bit stronger as he adjusts to life without a constant bombardment of triggers taxing his little body.

I am grateful for that.  I am grateful that he can feel the difference in just two short weeks. I am grateful that I didn’t lose him before his birth or after because of the ignorance of others.  I am grateful that he is so accepting of all of the changes we have had to go through in the past few weeks.

Anyway, I’ll cover more of the changes and the fun stuff later this week…

For now  I need to sleep so I can find the energy to keep us moving forward.

xo

Bek

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What Is The Value Of A Life? | Psychology Today

6 Nov

Great piece by Lynne Saroya’s Asperger’s Diary: Life through the lens of Asperger’s Syndrome on Psychology Today about self-worth, heroes, and being different.

 

What Is The Value Of A Life? | Psychology Today.

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