http://www.sfgate.com/cgi-bin/article.cgi?f=/n/a/2008/03/17/international/i160029D89.DTL
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Baby Suffers From Rare 'Aging' Disease
(03-17) 16:00 PDT Frankfort, Ky. (AP) --
If he's lucky, Zach Pickard will live past the age of 13. Zach, now 13 months old, suffers from Hutchinson-Gilford Progeria Syndrome, a disease that accelerates the aging process when the child is 18-24 months old.
Children with this syndrome die of heart disease at an average age of 13 after aging at a rate six to eight times faster than an average person. Approximately 100 cases have been formally identified in medical history and the odds of being diagnosed with it are roughly one in 8 million.
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"We realized God had chosen to bless us with this baby. And we are honored. Truly honored," Tina Pickard said.
Right now, Zach is young enough that he isn't showing many physical symptoms. As he grows, however, the recognizable traits of Progeria will begin to show up: limited growth resulting in a short stature, hair loss, a small face, thin skin and a loss of body fat.
Now, the Pickards are trying to raise money and awareness of the rare disease that afflicts Zach.
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Because heart disease is the number one killer in America, finding a cure will not only help children like Zach, but it may provide keys for treating millions of adults with heart disease and stroke associated with the natural aging process.
Researchers recently discovered the cause of Progeria in 2002. They believe it is caused by a mutation in the gene called LMNA, which makes the Lamin A protein. The defective Lamin A protein renders the nucleus of a cell unstable and that cellular instability appears to lead to the process of premature aging.
Zach's aunt, Kristin Pickard, organized a recent fundraiser in Frankfort, with the money going to the Progeria Research Foundation. Tina Pickard hopes that through this fundraiser, more people can know and understand the disease.
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I post this to extend my prayers to this good family, to other sufferers of this disease, and all families and individuals who struggle with an illness, especially one that is a great challenge, a burden, or a mystery. I encourage readers to focus some attention and resources toward the Progeria Research Foundation.
To researchers, this is where medicine can make a difference. Here is how you need to look at it philosophically. When a mutation like this occurs it is part of the history of mutations that spring up in both humans/animals and plants. Random mutations are caused by the environment and are a survival trait. Imagine in this case if there was a survival advantage for babies or cubs to grow up very quickly. Suppose the environment had changed so that the young were at a food gathering disadvantage. What is an illness in Progeria nowadays could, and did, play out as a sudden environmental advantage that springs into being in one person or animal, and if it gave a tremendous advantage, it would have been rewarded by better survival and thus pass on the mutation to offspring. But with as humans have evolved so that mutations no longer convey a survival advantage, each of these becomes rather than a saving grace mutation for the whole species, a great burden and mystery for the individual and their family. So in the evolutionary context, Progeria is like a "suggestion" delivered randomly to see if the recipient suddenly has a survival advantage. So this mutation is like if millions of years ago for some reason circumstances changed so that human babies could not be sustained during a long childhood, and/or the land could not sustain the long life of humans for some reason. This mutation could have changed the course of human history where babies aged tremendously rapidly, people as a whole lived many years less in lifespan, but they survived through this imaginary crisis that we are using for the purpose of explanation where the environment changed so that long childhood/long adult lifespans could not be sustained.
I thought I'd take a little time to explain why these mutations take place in a metaphysical and theological context. This family is very brave and to be admired in their understanding. I hope this helps. God would "want" researchers to do all ethical research that they can to mitigate and perhaps someday cure mutations that are now evolutionarily "unnecessary" when they occur in a person like this sweet baby. People don't want mutations to never happen, because life and the hospitality of this planet is unpredictable, and mutations continue to give plants and animals possible advantage when the environment changes radically. So researchers and their supporters need to understand that the focus should be on understanding the particular mutation, as they are doing in this example, and explore ways to reverse it, bypass it, substitute another pathway, or some mitigating gene therapy. It's a huge challenge. God bless all who try.