Communities of Mutants Form as DNA Testing Grows 161
GeneRegulator writes "The NY Times is running a story on communities that are forming around kids with rare genetic mutations. New technology that can scan chromosomes for small errors is being applied first to children with autism and other 'unexplained developmental delays.' It turns out that many of them have small deletions or duplications of DNA. Meanwhile, hundreds of little groups are forming around the banner of their children's shared mutations. As new research shows that many of us have small deletions and duplications of DNA that separate us from our parents, and that many of these "copy number variants" contribute to skills and senses, the families described in the story may presage the formation of all sorts of 'communities of the genetically rare' in the general population, not just amongst the developmentally delayed."
Re:Please help out (Score:4, Insightful)
Re:That's all well and good ... (Score:4, Insightful)
How many will die if insulin were just not available? A friend needs ranitidine to survive, without it he'd be dead within a short period of time. Turn off the civilization switch and you'll lose a huge percentage. It really doesn't take much to turn it off either.
Re:social pressure (Score:3, Insightful)
i grew up with a few lefties as friends and they never received any flack for it, if anything it made them feel a bit special.
was the 50's in america THAT fucked up?
Re:social pressure (Score:3, Insightful)
Re:Branching of the species? (Score:4, Insightful)
Re:Finally! (Score:3, Insightful)
Besides, there's liking unusual things, and then there's spending hundreds of thousands of dollars extra to get 1 extra knot out of a boat... and then you weigh it down with a full kitchen and bedroom. Or getting a really, really fast race-caliber sports car... and then ordering power windows. I have a full appreciation for people who are into racing and like to go fast - but most people are just showing off.
Re:Branching of the species? (Score:2, Insightful)
All of this, from a person in the mall calling the parents lazy and the child undisciplined, rather than stopping to ask themselves whether it really is their business -- a child screaming is equally annoying as really loud obnoxious laughter, un-PC jokes in a family environment, or yelling down the aisle for your kid to come to the checkout, or talking at full volume on a cell phone. The difference is that the others are somewhat considered acceptable by the masses, while the screaming child is not, despite that the other 'socially accepted' behaviors might be causing the discomfort for the child that is causing them to scream.
Issues with sensory integration are NOT fun at all to deal with -- having too much information flooding the body causes an extremely low threshold of being able to deal with things. Routines help make things tolerable, variation can make things overwhelming.
While it seems ohsocool to outsiders to have incredibly sensitive hearing or sense of touch, it isn't fun at all when the incredibly sensitive hearing is subject to poor acoustic design in shopping centers with sound bombarding from all sides, or crowded places with people pushing past the body, itchy fabric, smells, etc.
Re:Branching of the species? (Score:1, Insightful)
In 21st century USA, social isolation is not that extreme. Well maybe where you live--- but here in Southern California, you pretty much can't get more than a few blocks --at most, a few miles-- from people who are very different from you.
The parents are in 'take care of my disabled child' mode. They aren't spreading a genetic variant; it's all they can do to ensure that the child they love gets adequate care. They may have 'normal' children as well, but I don't think the normal siblings are going to be seeking out disabled mates. If they take any action, they will avoid procreation entirely or avail themselves of DNA testing services.
For the record, I used to work with autistic adults. As far as I know, not one of them was able to form a social bond that led to sex, much less parenthood.
Re:Rare != good (Score:2, Insightful)
I won't help these parents foster an aura of chicness around useless and/or harmful mutations.
Who the hell is talking about an aura of chicness?! Have you ever heard of the concept of a support community?
Where does one even start looking for medical information specific to a child with genetic defects? Many of these conditions are rare to the point that there is absolutely zero published research on them.
You don't go to your local library and pick up a book about the gastrointestinal peculiarities of children with a chunk missing out of a particular chromosome. The best resource is other parents, who are caring 24/7 for kids with the same condition. For even the rarest conditions, with only a few diagnosed cases in the world, the internet makes it possible to contact other affected families, and discuss important issues relevant to your children.
That's how we come to form a "community" around a genetic defect. Discussing our kids' medical needs. Therapy programs. Choice of support equipment. Debriefing over recent experiences. Celebrating achievements and milestones, such as a child learning to speak... at age 9. Education strategies. Ideas for travelling with incontinent young adults. Glamourous stuff. Totally chic.
For $deity's sake, at least RTFA before posting such a ridiculous AC rant. Or, for that matter, RTFA before modding such a rant as "insightful".
I'm going to take the indulgence of posting a link to http://www.pkskids.net [pkskids.net]. I'm sure a few of you can spare a couple of bucks to help people living with and around mosaic tetrasomy 12p. Despite what our AC might think, it's not a designer disability, and not something any of us chose for our children