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Explore and compare medicationsGabby Williams is 8 years old but has the skin of a newborn and only weighs 11 lbs. An ultra-rare genetic condition, for which doctors have no discernible explanation, keeps Williams from physically aging and has her parents caring for her nearly the same as the day she was born.
Williams shares her rare condition with only a handful of people around the world, including a 29-year-old man from Florida who has the body of a 10-year-old and a 31-year-old Brazilian woman who appears no older than two. While the medical community hasn’t yet established a cause for Williams’s or the others' conditions, research into the genetic disorder has promising implications for overcoming the inertia of aging.
"In some people, something happens to them and the development process is slowed," said medical researcher Richard F. Walker. "The rate of change in the body slows and is negligible."
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Walker has been researching Williams’ condition for the last two years. Retired from the University of Florida Medical School, Walker now performs his research at All Children's Hospital in St. Petersburg. He reports having spent his entire career studying the causes of aging. The patients he deals with live with other conditions such as deafness and the inability to walk, eat, or even speak. But most notably, they all age at one-fifth the rate of a normal person.Williams’ case is particularly noteworthy given her feature spot in the 2012 TLC documentary, “My 40-Year-Old Child.” Since the show aired, Williams’ parents told ABC News, their daughter has stayed relatively the same.
"Gabrielle hasn't changed since pretty much forever," said her mother, Mary Margret Williams, 38. "She has gotten a little longer and we have jumped into putting her in size 3-6 month clothes instead of 0-3 months for the footies.”
“Last time we weighed her she was up a pound to 11 pounds and she's gotten a few more haircuts,” she said, but other than that, things have remained the same.
Walker attributes Williams’ lack of aging to what he calls decreased “developmental inertia.” Her body’s normal physiological changes and maturation haven’t occurred because of the genetic condition. Normally when people age, their bodies mature until age 20 or so, and then begin to erode, or succumb to developmental inertia.
"If we could identify the gene and then at young adulthood we could silence the expression of developmental inertia, find an off-switch,” said Walker, adding that “when you do that, there is perfect homeostasis and you are biologically immortal."
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Part of the reason humans can’t live forever is that as chromosomes split during cell division, the telomeres capping the chromosomes begin to shorten. Scientists often liken telomeres to the plastic tip on the end of a shoelace, as they keep the frayed ends of the chromosome from fusing together and degrading the cell’s blueprint.Broken DNA is dangerous, and because of this a typical cell has the ability to repair chromosomal damage. Without telomeres, the cell would mistakenly sense broken DNA in the frayed chromosome. Doing so would cause the chromosome to stop dividing along with the rest of the cell and eventually die.
The result of overcoming developmental inertia isn’t living forever. It simply means old age wouldn’t come with greater risks of cancer, disease, and illness.
“You wouldn't have the later years,” Walker said. “You'd remain physically and functionally able.”
Aging isn’t only a process of telomere-shortening. Scientists include other factors such as oxidative stress, glycation, and chronological age. Oxidative stress, like glycation, is the compounding pressure put on DNA and lipids from oxidants. Glycation differs in that glucose is the main culprit, binding to and inhibiting DNA, proteins, and lipids. Chronological age refers to the number of years a person has been alive, and it reflects an increased risk for disease and illness.
In Gabby Williams’ case, her chronological age has little bearing on her outcome, although doctors cannot say with confidence how long they think she will live.
Devout Catholics, her parents accept their daughter’s fate however God intends it.
"When He is ready to take her back, it will be sad," her mother told ABC News. "But what a glorious thing it will be for Gabby to go to heaven one day. I know it will happen, but I am not hoping it's any day soon
Wow.
First off, any of my comments must be tempered by the acknowledgement that the article was not clear as to whether or not this disorder was accompanied by any physical or mental dysfunction. And I could only imagine the strain it puts on the parents, if for nothing else having to care for an infant for an undefinable length of time. But with that the possibilities and consequences are astounding! What if, in fact we as a species tapped into this, figured out how it worked and bottled it? If you do the simple math you'd come to the conclusion that the average human life span, in the developed countries is currently 81 years. So does that mean that person inflicted with this disorder could potentially life to be over 400 years old?! I may be over simplifying this, but what kind of quality of life is there. Furthering the equation, the average American retires at 65. So in effect these folks would be a retiree for 70 years!? OK, OK, I know, the equations abound not to mention cringing at the though of 15 years of puberty but I think you get the point.
How different would we be as a society if we all lived for centuries as opposed to decades? Would such advancement be available to only those of substantial means? And how would that knowledge set with all those disenfranchised? Don't want to get to much into the realm of fantasy, but not unlike the settlers in "Star Trek: Insurrection" who had lived for hundreds of years, would we, with time find the beauty of just "being" and perhaps come to appreciate what we have round us and with the knowledge that what we do to our home today will not only effect our descendants, but us as well?
Food for thought.
Yea, I think being forced to live with the mess we are leaving our Grandchildren would make for good incentive to start behaving a little nicer, a little cleaner....
Steven-
ReplyDeleteJoAnn and I wrote, produced and directed a movie about contrageria (biological immortality) 20 years ago called "Non Omnia Moriunter". There were hints of it even then in the news- research was being done at UCLA Berkely. It is the human condition opposite progeria, which is a very real and well-known thing.
I pegged the odds of a person having contrageria at one in a billion. There are seven billion people on earth. Seven have it. Three will never live long enough to realize it. Three are still too young know they have it. But one... looks VERY good for their age.
Look up the Compte de St. Germaine.
While I was aware of scientific research to slow if not hault ageing (think alchemy, even Shelly's Frankenstein) I was unaware of a genetic disorder's existence. As I said the magic f the internet!
DeleteMaybe I could use this in defense of when my wife tells me to grow-up. lol Probably not a wise move, but then again, how many movies use the line "do you want to live forever"? =)
ReplyDeleteThankfully I have no need to use any excuse to justify my lack of machurity, my wife just reluctantly excepts the condition! As far as movie lines, I'd be remiss to not mention "Twilight" at risk of a scolding from my lovely "Twihard" wife!
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