Overview:Hey people of the world! I'm Quinci Mann here to introduce you to a disorder called Pachyonychia Congenita or just PC. Let me start out by saying Pachyonychia Congenita is a genetic skin disorder that attacks the body in five different ways:
At first glance, you wouldn’t be able to tell that a person was diagnosed with PC, or at least without looking at their hands, nails, or tongue. Other than that a person with PC has a perfectly fine brain, and can do various other human activities. The inheritance follows an autosomal dominant pattern, which means only one copy of the gene is needed for the offspring to inherit the disorder. About 50% of offspring with a parent that has PC is diagnosed with it, regardless of gender. But it is possible, but very rare, when the child can get PC when there is no prior history of the family having PC. This is the occurrence of a new mutation, or usually referred to as spontaneous mutation. to see more pictures of this, you can visit www.pachyonychia.org
Treatment: At the moment, Pachyonychia Congenita is incurable. Patients have figured out how to manage this disorder in many ways, but there is no official drug therapy for PC now. Most People with PC typically manage their own symptoms. For example, Some people have special canes and walkers that can ease the pain off of the calluses on peoples feet. They have also created some shoes that comfort the feet as well. many patients with this disorder find it very easy to handle it themselves. Even keeping their hands and feet in cold water helps, and trimming their nails from time to time. Research: Like I said in my previous paragraph, scientists have not figured out a successful cure for PC. But research towards that is being done also, like special injections of the un-mutated keratin16-17( proteins inside the chromosomes that cause PC). the closest they've gotten to a cure is a new technology in process called gene silencing. That means they hope that by basically turning off the mutated keratins, the body will return to. its normal assembly of skin production, and eventually, strengthening the skin cells back to normal(1). Instead what happens is PC is misdiagnosed by doctors, and they confuse common fungus infections with PC. So instead of treating the PC diagnosed patient with PC healings, they treat it with fungal nail remedies(2).
Current Events:
I'm sorry to announce that there are no current events for Pachyonychia congenita. It acctually turns out that this genetic disorder is so rare that nobody has any progress or more like any recent news on the desease. So all I really have on the progress of PC is my Research paragraph which you can refer to if you want to know more about the newer remedies for PC.
 A life in a day:
The story I'm about to describe came from this link: Janice, Shwarts. "Jan's Corner." Pachyonichia Congenita Project. 2003-2009. Pachyonichia Congenita Project. 7 Jan 2009 http://www.pachyonychia.org/PUBLIC/jansCorner.php (3).
Janice Shwarts is a grown lady who was diagnosed with PC. Her husband doesn't have PC and her son, Nathan was born with PC and deals with the same truggles his mom went/goes through everyday. Let's start in the morning; Nathan wakes up and might do what you would call a regular morning routine of geting ready for school. Jan does the same, since Nathatn has to walk to school, he usually has to wear crutches or even bring a wheelchair to get there. Which as you can imagine, brings a lot of uneeded attention to nathan. When he gets to school and h a regular school experience with teachrs and friends, unitl he gets to P.E. Like I have said in other paragraphs, people with PC have very large calluses on their hands and feet, which limits them to the time they can use them. So in some cases, nathan can't participate in P.E. or various other movement activities. And the sad part is, his favorite thing to do is play football, but e can't bcause the cleats neded to play cause too much damge to his already damaged feet.
Nathan feels a lot of emotions because of his PC. He's angry because PC keeps him from doing te things he loves to do, he's sad because he is wored of what PC might prevent him from doing in his future, but mostly embrrased because of all of the uneeded attention he ets for having PC. Jan speaks for Nathan and herself when she says nothing is worse than being treated differently because of PC ( or any other genetic disorder). She remembers about a half year ago when nathan was to be playing soccer in P.E. Jan had talked to th teacher ahead of time so that the teacher would find an activity for nathan to do durin that time. Sadly for Nathan, that ctivity was sitting in front of the office as if her were in some sort of trouble. Th kids would asked what he did, and several times he had to tell them about his disorder. The kids obviously didn'tknow what it was, and just gave him grosed looks and kept on with their lives. Nathan was so mortfyied that he almost ddn't go to school the next day.
  Genetics:
PC is a mutation that affects the way your body makes fibers. The Fibers help keep your skin strong, but because of PC the protiens needed to do so (keratins) are either missing or damaged. These keratins link together, and are like the bodies on and off switch for making protiens(4). The mutation happens within these links, when the  keratins link together, one of the strands might not perfectly spindle around the other as it's supose to. Because the strands are now unalligned, the on and off switches are un-synced and that affects the way your entire body makes skin protiens. Now, here's the fun part, you can visit Pachyonychia.org and go to the tab that says patients. Then, click on the tab within the Patients tab that says PC genetics. Click on that and it will take you to a site and when you scroll down you will see three tabs and a play button, press the first tab to get a better feel on how the genetics work in PC. (Picture to the far right is (5))
 References:
(1),(4) & (5)-Genetic Science Learning Center. "Pachyonychia Congenita." Learn.Genetics 20 January 2009 http://learn.genetics.utah.edu/content/disorders/whataregd/pc/index.html
(2)- "Blisters-WrongDiagnostic." Pachyonychia Congenita Recessive. 01-15-09. 20 Jan 2009 <http://www.wrongdiagnosis.com/p/pachyonychia_congenita_recessive/intro.htm>.
(3)Janice, Shwarts. "Jan's Corner." Pachyonichia Congenita Project. 2003-2009. Pachyonichia Congenita Project. 7 Jan 2009 http://www.pachyonychia.org/PUBLIC/jansCorner.php
Bibliography:
Genetic Science Learning Center (2008, December 17) Pachyonychia Congenita. Learn.Genetics. Retrieved December 17, 2008, from http://learn.genetics.utah.edu/content/disorders/whataregd/pc/index.html
Janice, Shwarts. "Jan's Corner." Pachyonichia Congenita Project. 2003-2009. Pachyonichia Congenita Project. 7 Jan 2009 http://www.pachyonychia.org/PUBLIC/jansCorner.php .
Genetic Science Learning Center. "Pachyonychia Congenita." Learn.Genetics 20 January 2009 http://learn.genetics.utah.edu/content/disorders/whataregd/pc/index.html
"Journal of Investigative Dermatology." Editorial;clinical snippets. 2009. Nature Publishing Group. 22 Jan 2009 <http://www.nature.com/jid/journal/v128/n2/full/5701219a.html>.
"Services." 2009. shalom ambulette. 22 Jan 2009 <http://shalomambulette.net/Services.html>.
"Ain't that a shame." partnership for learning. partnership4learning. 22 Jan 2009 <http://images.google.com/imgres?imgurl=http://www.laundryblues.com/Images/LaundryBluesSadFace.gif&imgrefurl=http://www.partnership4learning.org/resources/blog/ain-t-shame&usg=__dhIORINSXHgLyIUCYq2NxnMUS7M=&h=563&w=594&sz=22&hl=en&start=7&sig2=mjLNfMoNaV8drOtPRkCsAA&tbnid=WWBanpss_bJkYM:&tbnh=128&26gbv%3D2%26hl%3Den>.
"Fire Within." Looking ahead is leaving the past were it is. Fire Within. 22 Jan 2009 <http://donaldb.wordpress.com/2007/04/09/looking-ahead-and-leaving-the-past-where-it-is/>.
"Teens for Planet Earth." What to do in High school. Wildlife Conservation Society. 22 Jan 2009 <http://teens4planetearth.com/teenslibrary/teenstodoinhs>.
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This is really good! whos page is it?
ditto
as larkin said
Nice job keep it up Quinci!
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WOW YOU'VE DONE SOOOOOOO MUCH!!!!!!!!!!!!
It's really good quinci, very conversational and informational!!!!!!!!!
great job! you got a lot! keep working!
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looks great. very clear and easy to understand
Don't forget a picture of the research section. Maybe a scientest... Anyway your page is amazing.