Thursday, June 16, 2011

Technology amazes me

Or I should say, the internet amazes me. I was googling Brennyn's genetic syndrome (there isn't much out there, let me tell you) when I came across a scientific case study completed in Guangdong, China. The author/researcher completed a paper on a patient suspected of having ADULT syndrome (they aren't able to do the genetic DNA testing in China at this point in time, so they can't without a doubt prove that this person has the syndrome). The paper states that this patient is the first known case of ADULT syndrome in China (although, I am sure there are more, but the people affected wouldn't know they have it).

I decided to e-mail the author of the study, assuming that I would never hear back. Firstly, the study was published in 2006, secondly, the Scientist/Doctor lives in China.

You can imagine my surprise when, 2 days later I got a response. Have I mentioned how much I love the internet/e-mail/technology!!
He mentioned how rare her syndrome is, and if his research could help in any way to let him know. On the flip side, he is also trying to learn as much about this syndrome as well.

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