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Published: 2018-08-01 21:11:37 +0000 UTC; Views: 1410; Favourites: 6; Downloads: 0
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EEEE it's August; Autoinflammatory Disease Awareness Month !
Autoinflammatory diseases are rare diseases that occur when the part of the immune system that acts as a first responded to infection-- the innate immune system-- gets improperly activated. Autoinflammatory diseases are characterized by recurrent fevers, rashes, arthralgia/arthritis (joint pain/inflammation), eye inflammation, and other symptoms.
The most common Autoinflammatory disease is FMF, or Familial Mediterranean Fever, characterized by recurrent episodes of fever with serositis (inflammation of serous membranes-- membranes that line certain parts of the body) which can cause abdominal and chest pain (peritonitis and pleurisy, respectively). Other symptoms include arthralgia/arthritis, a rash (especially below the knees), and muscle pain. Left untreated, FMF can cause AA Amyloidosis, the deposition of a protein called serum amyloid A (SAA) in organs. Usually, AA Amyloidosis caused by FMF affects the kidneys. FMF is a genetic disease; it is caused by mutations ont he MEFV gene.
I have vCAPS- variant Cryopyrin Associated Periodic Syndrome. CAPS, or Cryopyrin Associated Periodic Syndrome, is usually divided into three types: Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome (MWS), and NOMID (Neonatal-onset Multisystem Inflammatory Disease). People who have CAPS, but don't fit into the three types of CAPS can be classified as variants. CAPS is caused by mutations on the NLRP3 gene.
You can donate to the Autoinflammatory Alliance at autoinflammatory.org/support.pβ¦
yeet
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Comments: 17
archeroni [2018-08-03 23:11:14 +0000 UTC]
keep your head up! the genes responsible for mine havenβt been identified, but the best guess they have for me is also a CAPS variant <3
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PythonKitten In reply to archeroni [2018-08-04 03:38:29 +0000 UTC]
There's alsl FCAS2, FCAS3, and FCAS4 to look in to. All three are very rare (even for Autoinflammatory diseases) but if you're a suspected variant it may be worth testing.
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PythonKitten In reply to archeroni [2018-08-04 03:27:21 +0000 UTC]
Also,, fever dreams pls no amirite
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PythonKitten In reply to archeroni [2018-08-04 03:25:48 +0000 UTC]
Ayyy!!! Have you had genetic testing yet?
saidsupport.org/diagnosis-geneβ¦
Invitae has a pretty large panel for like $205 or smthn??
Tbh nobody saw CAPS coming in my case hahaha Im atypical
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archeroni In reply to PythonKitten [2018-08-04 13:21:16 +0000 UTC]
i've defo been tested for like FMF and a couple others, can't remember off the top of my head - my mum really wants to get that panel actually, but tbh I don't see much point in it becuase they said i'll probs grow out of this by the time im like 22 and im 18 now, so.....
yeah it sucks dude, i completely understand where you're coming from :^) i think my highest temp was 42C/107F so THAT was a fun day lol
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PythonKitten In reply to archeroni [2018-08-04 15:50:44 +0000 UTC]
CAPS isn't something you grow out of.
PFAPA is the Autoinflammatory disease people grow out of (by adolescence). I was misdiagnosed with PFAPA in 2005 (back then my symptoms were MUCH milder and thr dx criteria for these diseases were different) so I grew up thinking it would go away.
And AHHhH it legit took me soo long to figure out that high temps weren't normal???? Like I thought 104 was low-- when my mom took my temp ans she was like "oh, its 104.5" I was like "pFFFTTTT thats nothing"
I don't get high fevers anymore but golly gosh my other symptoms have gotten bad x''D
Are you part of the patient group on Facebook? Its rlly useful!
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PythonKitten In reply to dayyon [2018-08-02 00:07:00 +0000 UTC]
but can you
b i g g e s t
o w o o w o o w o o w o
o w o o w o o w oΒ o w o
o w o o w o o w o o w o
o w o o w o o w oΒ o w o
o w o o w o o w o o w o
o w o o w o o w o o w o
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dayyon In reply to PythonKitten [2018-08-02 02:19:44 +0000 UTC]
OH WOW THAT'S A BIGGEST OWO
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