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  • National Rare Disease Week: FEFEBRUARY 28, 2023

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    Rare diseases are defined as those affecting fewer than 1 in 20,000 people. There are currently around 6,000 known rare diseases that are chronic, progressive, degenerative, incapacitating and potentially fatal. Examples include cystic fibrosis, fibromyalgia and neurofibromatosis. Most rare diseases are genetic mutations that can be inherited from generation to generation, though some occur randomly. It often takes years to diagnose a rare disease correctly due to their challenging nature. Living with a rare disease impacts people worldwide due to a lack of specialists, information and medical support for the varied signs and symptoms between and within diseases.

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    Rare diseases are defined as those affecting fewer than 1 in 20,000 people. There are currently around 6,000 known rare diseases that are chronic, progressive, degenerative, incapacitating and potentially fatal. Examples include cystic fibrosis, fibromyalgia and neurofibromatosis. Most rare diseases are genetic mutations that can be inherited from generation to generation, though some occur randomly. It often takes years to diagnose a rare disease correctly due to their challenging nature. Living with a rare disease impacts people worldwide due to a lack of specialists, information and medical support for the varied signs and symptoms between and within diseases.

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    9 views1 page

    National Rare Disease Week: FEFEBRUARY 28, 2023

    Uploaded by

    Lj Loey
    Rare diseases are defined as those affecting fewer than 1 in 20,000 people. There are currently around 6,000 known rare diseases that are chronic, progressive, degenerative, incapacitating and potentially fatal. Examples include cystic fibrosis, fibromyalgia and neurofibromatosis. Most rare diseases are genetic mutations that can be inherited from generation to generation, though some occur randomly. It often takes years to diagnose a rare disease correctly due to their challenging nature. Living with a rare disease impacts people worldwide due to a lack of specialists, information and medical support for the varied signs and symptoms between and within diseases.

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    NATIONAL RARE

    DISEASE WEEK
    FEFEBRUARY 28, 2023

    WHAT IS A RARE DISEASE?

    RARE DISEASE IN THE PHILIPPINE IT


    AFFECTS NO MORE THAN ONE IN 20,000
    PEOPLE. THERE ARE CURRENTLY ABOUT
    6,000 RARE DISEASES THAT HAVE BEEN
    RECOGNIZED. THEY ARE CHRONIC,
    PROGRESSIVE, DEGENERATIVE,
    INCAPACITATING, AND POTENTIALLY
    FATAL.
    WHAT ARE EXAMPLES OF RARE DISEASES?

    CYSTIC FIBROSIS - AN INHERITED DISEASE THAT CAUSES SEVERE


    DAMAGE TO THE LUNGS, DIGESTIVE
    SYSTEM, AND OTHER ORGANS IN THE BODY.

    FIBROMYALGIA - A DISORDER CHARACTERIZED BY WIDESPREAD


    MUSCULOSKELETAL PAIN ACCOMPANIED BY FATIGUE, SLEEP, MEMORY
    AND MOOD ISSUES.

    NEUROFIBROMATOSIS - A GENETIC DISORDER THAT CAUSES TUMORS TO


    FORM ON NERVE TISSUE. THESE TUMORS CAN DEVELOP ANYWHERE IN
    YOUR NERVOUS SYSTEM, INCLUDING YOUR BRAIN, SPINAL CORD AND
    NERVES.

    WHAT CAUSES RARE


    DISEASES?
    RARE DISEASES CAN HAVE A WIDE VARIETY OF CAUSES. THE MAJORITY ARE
    ASSUMED TO BE HEREDITARY, BROUGHT ON BY ALTERATIONS IN CHROMOSOMES
    OR GENES. DISEASE-CAUSING GENETIC MUTATIONS CAN OCCASIONALLY BE
    HANDED DOWN FROM ONE GENERATION TO THE NEXT. IN OTHER INSTANCES,
    THEY DEVELOP AT RANDOM IN A PERSON WHO RECEIVES A DIAGNOSIS FOR THE
    FIRST TIME IN A FAMILY. SEVERAL UNCOMMON DISEASES, SUCH AS
    INFECTIONS, A FEW RARE MALIGNANCIES, AND SOME AUTOIMMUNE DISORDERS,
    ARE NOT PASSED DOWN VIA THE FAMILY. THE BODY

    HOW LONG DOES IT USUALLY TAKE


    TO GET AN ACCURATE DIAGNOSIS OF
    A RARE DISEASE?

    IT CAN TAKE YEARS TO RECEIVE


    AN APPROPRIATE DIAGNOSIS
    FOR A RARE DISEASE BECAUSE
    THEY ARE TYPICALLY
    CHALLENGING TO DIAGNOSE.

    WHAT HAS BEEN THE IMPACT OF


    RARE DISEASES ON PEOPLE AND ON
    THE WORLD?

    THERE ARE DISTINCT SIGNS AND SYMPTOMS


    FOR EACH RARE DISEASE. THEY DON'T JUST
    VARY DEPENDING ON THE CONDITION. EVEN
    THOSE WHO HAVE THE SAME ILLNESS WILL
    EXPERIENCE THINGS IN VARIOUS WAYS. THESE
    AND OTHER REASONS CONTRIBUTE TO THE
    PAUCITY OF SPECIALISTS, INFORMATION
    ABOUT THESE ILLNESSES, AND MEDICAL
    ASSISTANCE AND SUPPORT AVAILABLE TO
    THOSE LIVING WITH UNCOMMON DISEASES.

    PSUBAYAMBANGNURSINGGUILD BAYAMBANGIN@PSU.EDU.PH

    HTTPS://WWW.FACEBOOK.COM/PHOTO/?FBID=319093286917927&SET=A.226620972831826

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