Friday, September 23, 2011

What is normal?

I am no expert. Let us get that straight right from the start. I am trying to deepen my understanding of genetics, and here is where my thought process lies ... follow along if you like.

Long ago, I had written in my journal that I did not agree with the way science, or perhaps the media reporting on science, portrayed genetics as a code passed down with complete perfection from one generation to the next. Variations were only caused by the combining of two sets, and any other variations were diseases. It was portrayed that a complete set of chromosomes was perfectly natural.

Normal, one would say.

Since we're labelling ... Normal.
I rejected this. I thought that during our lifetime, our genes could be affected by who we are, what we do, and how we survive in the world. Perhaps I am wrong. It was just a theory. The problem is in the mechanism. How do genes actually change ... is it at the moment egg meets sperm, and at no other moment, or can changes happen within a person's lifetime to their genetic makeup?

Not (?) normal.
I now know, (with a nod to the program 'Weird or What') that it is possible for one person to have two different sets of genes in the same body. There was an instance of a woman in New Mexico who tested a negative match to her own child. This was shocking to her, to say the least, as she had birthed him in a modern hospital all on the record. It turns out that part of her body shared his genetics, and another part didn't.

So this begs the question, if our genes change during our lifetime, how do they change throughout the body? If they change only at conception, how is it we pass on certain things? Nurture rather than nature? There is an entire lifetime profession of possibilities. The study of these questions is part of a new field called Epigenetics.


Bear with me.

The other day when we were driving, Cole said that he would be nice to Owen because he is not 'normal', and would treat him normal so he will feel included. I was proud and a little dismayed at the same time.

Proud because he was being a great big brother, showing a resolve that Owen should feel comfortable and accepted. But I was also dismayed because for all intents and purposes, Owen IS normal. If Cole was to know all the 'adult' issues with other people who are close to him, he would find a soup containing borderline personality disorder, Fragile X, chronic depression, autism, dwarfism, and fetal alcohol syndrome.

All this without mentioning a father who has the exact same genetic anomaly as his brother, and a 50/50 possibility that Cole himself has the same anomaly. In fact, he has an entire family of people with odd sensory issues, and yet he perceives Owen as abnormal, simply because Jennifer and I talk (perhaps too openly) about the challenges.

Normal? Or not?

We decided not to talk about Owen's issues when kids are listening, and it brings up questions about the consequences of our actions. One just has to google "killed" and "bully" to bring up frightening realities for kids who are different, even here in our Canadian schools. This is what we want to avoid, is a situation where chatty Cole talks about his younger brother and inadvertently sets in motion a chain of events that leaves Owen outcast, or at worst could have other consequences.

The problem is in the label. Normal. It screams of a majority group of us who are perfectly well-adjusted, with clean DNA, no problems at home, and a background that allows judgment from a morally superior perch.

Here is the reality. Nobody is normal. Not even you. Social skills and history aside, even genetically everyone has small additions and deletions. They are common, one could even say rampant, because that is how we evolve. These variations are called traits. Everyone has a soup of them, all within the bounds of normal, that we have learned to either suppress or exploit to get along in the world.

So when it comes to Owen, and all of us for that matter, when does a "trait" become a "disorder?

Genetic testing would say, and actually did say in Owen's case, that when a variation is under a certain level of genes affected, it is a 'normal family variant'. In that way, they can state that genetics do not cause clinically observed abnormalities. The researcher in Italy, even, was uninterested until she found that I had the same genetic variation as well, AND had issues as a child. What they were doing was counting the size of the variation, and the genes affected, and simply reporting on that.

I think that's rather narrow and overly scientific.

In my mind, it works like code in a computer. You can change all kinds of things and have no effect, but if you start randomly cutting and pasting, you eventually see all kinds of problems. It all depends on WHICH code you replace, not how much. Even the smallest could cause the blue screen of death.

In people, I believe small duplications and deletions can have big impact, and larger sequences a smaller impact, based on their location.

The benchmark should be a better merging between the clinically observed and the genetic analysis. This is happening, but it could take a long time. It requires the merging of the social, or 'soft' sciences of medicine, with the 'hard' science. Both are equally necessary for the patient experience, and in this case, neither are lacking, it is the one-two punch that is disorganized.

For now, I think we should hold off trying to actually diagnose things through genetics, unless the results are proven. Some things can already be diagnosed, others, not. In the meantime I don't believe we should be stating that the variations are 'normal' if the testing hasn't beyond a doubt proven the theory. If even small variations can cause disorders or even discomforts, or can lead to a mis-diagnosis, then we need to know which ones are linked before giving any results. 

Not normal.
In the meantime, I think the information should flow the other way. We should be collecting data on which variations go with which symptoms, and through the cataloging and collective data-gathering, determine which genes affect which people in which ways.

All that said, genetics is in its infancy. I can't wait to see what happens with it in the next ten years.

 My wife, Jennifer's, blog can be found here:
Cleverly Disguised as Cake

A teaser chapter for my current novel is now up!
Seven Gates

And my first novel, squeakyclean, here:
eBook, pdf, mobi, epub, rtf, lrf, palm, txt
Kindle US
Kindle UK
Kindle Germany

No comments:

Post a Comment