Tag Archives: prematurity

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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Bubbling fountains of exhaustion…

21 Apr

Plumbing/H2O conservation event

I am exhausted from having to spend time (that I should be spending with my child) defending/explaining myself as a parent to other people and managing unreasonable expectations of other people.

I’m thinking of printing up some wallet cards- on one side they will say “My child has ASD. Your ugly, judgmental expression and attitude is making him scream louder.” On the other side they will have a host of facts… There will probably be some snide comment about Rainman and of course something about Autism being a spectrum. Possibly the definition of  spectrum as it seems to evade the people who latch on to Rainman as the diagnostic criteria.

But it’s not just strangers.***

A great piece I read recently for grandparents with a newly diagnosed grandchild with Asperger Syndrome mentioned how to behave if they don’t believe the diagnosis and how to find more information about Asperger’s. It’s a perfect letter, even in it’s very broadness.  I’m amazed on a frequent basis how many people (friends, family, acquaintances***) tend to ignore the diagnoses and trials we have faced in the past 6 years. It’s a type of denial that from afar seems like the most loving, generous acceptance, but from this perspective is just plain ignorance and refusal to accept the reality.  Every article I have read about special needs parenting and grandparenting speaks of mourning the loss of the dreams one had for their imaginary perfect grandchild.

Blech.

I get that it needs to happen for many people and it’s part of the healing/mourning process. But I also think that lots of parents with a special needs kid don’t get the luxury of going from everything is fine to a diagnosis and having time to process any of it.  We are entirely too booked to spend time doing anything other than supporting our kids and most of us don’t just wake up one day and say “Johnny is sort of ‘off’ compared to his peers”, it’s an ongoing and lengthy process.  It’s also incredibly isolating in so many ways.  Grandparents and other relatives*** adjusting to a diagnosis, if they share the information, receive sympathy and support which is wonderful.  As a parent who has been through the wringer, I wish I didn’t feel like dancing around singing “I told you so! I told you so!” in full operatic blast at the people who called us names and labeled us and suggested we improve our parenting skills rather than pursuing a label and help for the broad and invasive symptoms our son was having. I wanted a piece of paper that has his diagnosis, I wanted it framed and a mini laminated one for my wallet. One that says “See, I’m really an awesome parent to the world’s most amazing little boy who happens to have ASD” (It would also have a little *ASD is a neurological condition and not a result of poor parenting or non-corporal discipline” and possibly a genuine, heartfelt “Na-na-na-na. So there. Pfffft.”)

If I could I would enact a law that would make people apologize for the hurt they bestowed upon the exhausted parents, and the child.

I think one way I can make lemonade out of our scary and horrible 20 week ultrasound (we had a bunch of red flags either for Down Syndrome or genetic disorders incompatible with life, turned out to be due to a scheduling error. Yes, my hair did start going gray on the spot) in that it made me examine the expectations for my child.  Alex’s hydrocephalus and initial kidney reflux made me examine the expectaitons once again.  When he was a year old the early intervention case worker asked what our goals- short term and long term- were for Alex.  Nobody wants to go through any of this special needs stuff, but really, understanding one’s expectations and setting goals for your child and for yourself are crucial.  I understand the need for Kubler-ross’s stages in processing these things, but to be blunt: I don’t have time to hold your hand. My kid needs both of my hands 24/7/365. I can steer you toward sources that can help, but frankly I have been on my feet 24/7/365×6 (except for the few months on bedrest when I was called selfish and uncaring because I did not appear at one birthday party) and the only me time I have is the 15 minutes in the shower where I really just lather up and cry so my kid doesn’t have to ever think that the tears are because he is different in so many ways.  They aren’t. They are because I am exhausted and when I have opened up about our trials and tribulations and our triumphs I am told I am too negative or obsessive or I just talk to much and I go on and on (I do. Guess what? Kids with Asperger’s usually have a parent with many traits. Definitely applies here.)

Which brings me to the 2nd most exhausting thing : having to manage other people’s expectations. Those folks living in semi-denial (they seemingly accept your child by ignoring their differences completely- lovely and sweet but it brings a whole new element of feeling like one is living in the twilight zone as they brush everything off and saddle you with a virtual straight jacket while your child gets himself into dangerous situations and they just smile and tell you to stop being paranoid and overprotective as that’s what all boys do.).  They don’t accept the reality, they cannot form any sort of support whatsoever. They can’t even watch your child safely for an hour so you can go to the gyno without holding a puking an infant during the exam or so you can just let go an nap without worrying about every little noise.  Because they, in their denial (for lack of a better term, I also think of denial in many cases is better described as intentional ignorance) can’t possible babysit for your kid because they don’t really see your child in all his/her real, rawness. They see the child they expected, particularly in the case of kids with invisible differences.  They may comment on your parenting as a potential trigger to the child’s differences. Every minute of everyday of my life, since we were trying to conceive, has been dedicated to my son. I would love a day off, or an hour where I don’t have to divide my senses to accomplish tasks and keep him safe.  The reality is that without the attention we have given him, he wouldn’t be in school. He wouldn’t be communicating with any of the other kids in any positive way. He wouldn’t be able to sit and focus on some of his favorite activities.  Explaining that he is not cured and this is a very real thing that requires this much attention and having to defend our decisions as his parents is so exhausting.   The only thing keeping them from accepting our kid is themselves.  Their intentional ignorance (they have as much access to resources as I do, they can ask if they need guidelines or information, but they never have) is based on their expectations.  We are burdened with their expectations, thankfully we aren’t further weighed down with our own as we know better.

When Alex was born we were burdened with the expectations of a relative who expected Alex’s birth and the following months to follow what she had imagined, but no adjustments were made for actual circumstances (high risk, prematurity, c-section, NICU stay, and weak immune system and RSV/flu season quarantine) and who suffered for it?  The handling of those expectations, the intentional ignorance (it was decided that we were paranoid neurotics because we wouldn’t visit with anyone with a cold, flu, or mono or visit hospitals with our preemie. We were listening to the guidelines given to us, and frankly common sense, and passed the information on to family and friends to protect our premature infant), still does damage to Alex and to me and to my husband(and some people have still not bothered to read a single article that would tell them that we were rational and being good parents, not neurotic germaphobe freaks).

We don’t need this extra stress, we have plenty.

So my advice, if a relative(near or far) or friend has a child diagnosed with anything, ask about it.  Do not pretend it is not there and do not pretend it is the end of the world or make light of it.  Please do not base your opinion of our parenting and our child on some other person’s experience.  If you really want to help, if you really want to continue our relationship in this new leg of our personal journey, then don’t say “if there is anything I can do”, the best thing is to just ask about our child, or this new path we are on. Just ask if there is anything you can read to learn more, so you can understand and help when the parents or child need it, even if the help that is being begged of you is as simple as a receptive ear.  Throw your expectations out the door. Even if you have experienced something firsthand, you have not experienced it from my unique perspective, or that of my husband or child, so put those expectations of all of us far, far away.  It can help each and every one of us. It can make our little world, your world, and the world at large, better a more peaceful and enriching place.

So, if you are a parent of a special needs child, or a special needs parent of a non-special needs child, or if you are a special needs parent of a special needs child please speak up! I’d be curious to hear what you have to think.  I’d also love to hear from extended family members (anyone’s family!) who have had a child diagnosed with a neurological/developmental disability and how you have handled it (for better or for worse, it can only serve ot teach, right?)

Big hugs all around…

xo

Bek

***p.s.  This, by far, doesn’t apply to every family member or friend in our lives. I guess it is those squeaky wheels that get the grease (or the can of whoopass, as the case may be).  If you have never even had the slightest thought along the lines of “I knew this would happen” or “It’s because they are isolated freaks” or  if you have never felt slighted because we did not participate in something that was focused on you or anyone outside of our mini- three person tribe,  then this stuff probably does not apply to you…  And you get an extra special thanks. Wish it were more, but yeah, you probably just read this and well: THANKS.  Big hugs.

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