Tag Archives: blood tests

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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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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