What Do You Know About SUPER Rare Diseases Like This One?

If you have a disease known as Pyrin Associated Autoinflammation with Neurtrophilic Dermatosis (PAAND), you’re in luck! Your tongue isn’t, though, because that’s a TWISTER!

Put it away. Source: www.giphy.com
Put it away. Source: www.giphy.com

Fun fact: It’s caused by the same gene suspected of causing Familial Mediterranean Fever.

No one used to know about PAAND, let alone how it was caused. But patients with it could experience any symptom from lesions on the skin, to pain, to fatigue, to high fever.

Thanks to Dr. Seth Masters at Walter and Eliza Hall Institute, we now understand what leads to PAAND.

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Isn’t science incredible? Source: www.giphy.com

You can find the research that led to the discovery in the journal, Science Translational Medicine. The published article talks about a gene known as MEFV. In the bodies of people with PAAND, the MEFV gene mutation need only be inherited once by a child for the child to have the disease. In people with Familial Mediterranean Fever, a child must inherit the mutated gene from BOTH parents. So, there’s your difference.

If a person has the mutated gene that leads to PAAND, the body will go on the defensive as if it’s fighting an infection, hence why “autoinflammation” is in the name.

This may not seem like big news, but this is just a first step.

Now knowing the cause, researchers and scientists can begin developing therapies to treat PAAND—maybe even cure it? In fact, treatments have already begun breaking through the surface! And they’re helping!

Masters aims to continue his research on rare diseases and understand the causes of those that are rarely talked about.

Let’s hear it for the master who is Masters! See what I did there?

Source: www.wifflegif.com
Source: www.wifflegif.com

Lady Kehveen Abernathy

Lady Kehveen Abernathy

Lady Kehveen Abernathy, of noble birth (or so she’d like to believe), is what many would call a youthful “old soul.” As a self-proclaimed “caregiver to the world,” impassioned about life, triumph, and all things beauty, Lady Kehveen strives to love others, seek understanding, and most importantly, spread awareness. But don’t let her sweet demeanor deceive you. Dressed to the nines over corset and petticoat, she’s made it her mission to defend the innocent and fight all things evil on this Earth. And being no stranger to chronic disease, she knows exactly where to start.

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