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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4 Responses to “Genes aren’t always comfortable.”

  1. Heather October 3, 2010 at 8:45 pm #

    Oh, my goddess, sweetheart. This is just…I am humbled by this. Your pain and anger and love and sorrow is so real. Thank you for sharing.

  2. Kim, Rambling Family Manager October 4, 2010 at 12:22 am #

    Hi:
    I’m stopping by on the NaBloWriMo tour.

    I don’t even know what to say or how to comment after reading your post. I do know I wish you the best as you struggle with this.

  3. Aleta October 4, 2010 at 3:52 pm #

    You have been through so much and so has your son. I’m incredibly sorry that you have lived this and feeling such angry, understandable so. I’m glad you blogged about it ~ setting a path for other people. Sending your positive thoughts, it doesn’t seem like much in comparison to your pains, but it’s there for you.

  4. Xiane October 9, 2010 at 12:37 am #

    Your anger is so justified, my friend. I’m just sitting here, shaking my head, at all of this – it broke my heart to read Alex’s questions to you, so logical and earnest. The one happiness I see in this is that at least you do finally know, and it sounds like the work to change your diets is paying off, for which I rejoice to hear.

    I think about you and Alex all the time, and send you all the love I can. I’m glad that answers are finally starting to come.

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