One of my many genetic gifts

Cause and effect
Today, a friend of mine at work asked me what causes scoliosis. I said that no one really knows, but that it is likely hereditary. As soon as she walked away, I rushed to Wikipedia to look it up. I was right. And wrong. But we'll go with right.

Scoliosis can be congenital (a disorder present at birth that developed in the fetus) or a secondary symptom of another condition like cerebral palsy, or it can be idiopathic, which is sub-classified as infantile, juvenile, adolescent or adult, depending upon when it starts. Mine is adolescent idiopathic.

Idiopathic-- adj.; medical term meaning unknown cause; arising spontaneously; from an obscure or unknown cause

Medical breakthrough
So it's unknown. Kind of. Researchers for years have assumed that scoliosis runs in families but haven't been able to prove a connection. In 2007, researchers, including some from Texas Scottish Rite Hospital for Children where I used to go for my scoliosis, identified a defect in the gene CHD7 to idiopathic scoliosis. From reading Wikipedia and this article, I'll try to explain how the defect works. (Doctors, if any of you are reading this, feel free to refute this as I have no clue about science.)

Researchers analyzed a whole bunch of DNA from families with scoliosis. They found that in people with scoliosis, the CHD7 genes weren't absent but just turned off here and there. This is probably wrong, but its how I think of it--imagine a strand of 6 billion Christmas lights and every once and a while, a bulb is off. If too many are off, there could be a lot of really bad problems associated with a syndrome called CHARGE, or if there's not as many, scoliosis can gradually develop.

As we know, genes come from our parents, so apparently, idiopathic scoliosis is hereditary. It's called a Mendelian inheritance. So while some of you get dimples or hitchhiker's thumb, I got scoliosis. Thanks, Mom! Just teasing. Mom also had to deal with life with scoliosis, so there's no blame from me. Someday I may pass this onto my children and we can all laugh about it over a cup of tea. Ha, ha, genetics.

6 comments:

carra said...

Well it just goes to show the apple doesnt fall far from the tree, thankfully you are in a modern-science era and have the ability to take control and get help. love you megsgolightly.

Megs said...

Love you, Carra Bear.

cats said...

Hmmm...scoliosis can run in families [i.e. there's a genetic link], but its not necessarily hereditary as such...bahhh, its complicated huh =P So for example, in your case, it was passed down from your mother. On our forum, there's a member called scolioscott, who's two daughters both have it and their cousin also, but none of their parents, so again a genetic link, but not hereditary as such, as it wasn't passed down from another generation [unless there was a great, great, great relative or something lol]. OR, in my case, there could be absolutely no-one in your family with it, and BAMN, out of the blue, my spine goes flop. We just can't win, can we =P

Anyway, sorry for the essay!!
madmclw of SSO

Megs said...

Thanks, Maddy, for the insight. As I said before, I'm not near intelligent enough in the science department to have made this post in the first place! I'm glad you could clarify a little for me.

Funny description, too, of your spine going "flop". :)

No, I guess we all can't win but at least we have a great support network. Anyone else who is reading this, our support network is at http://scoliosis-support.org. Check it out.

Anonymous said...

I'm a weird one, mine was caused by a syndrome called Beal's that until recently there was absolutely nothing on the Internet about. Nowadays people seem to think it's a fairly newly-discovered thing, yet as far as I'm aware I was diagnosed when I was a baby!

Megs said...

That's very interesting, Vicki. I had no clue about all the different causes.

Thanks for sharing!

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