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Filtering by Tag: rare disorder

Bleeding Disorder Awareness Month

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It's Bleeding Disorders Awareness Month!

The bleeding disorders community includes more than three million Americans who have hemophilia, von Willebrand disease, and other rare bleeding disorders (called rare factor deficiencies). All of these conditions prevent the blood from clotting the way that it should, which can lead to prolonged bleeding after injury, surgery, or physical trauma. They can even be deadly if not treated correctly.

Normally, if you get hurt, your body forms a blood clot to stop the bleeding. For blood to clot, your body needs cells called platelets and proteins known as clotting factors. If you have a bleeding disorder, you either do not have enough platelets or clotting factors or they don't work the way they should.

There are numerous different bleeding disorders, but the following are the most common ones:

Hemophilia A and B are conditions that occur when there are low levels of clotting factors in your blood. It causes heavy or unusual bleeding into the joints. Though hemophilia is rare, it can have life-threatening complications.

Factor II, V, VII, X, or XII deficiencies are bleeding disorders related to blood clotting problems or abnormal bleeding problems.

von Willebrand's disease is the most common inherited bleeding disorder. It develops when the blood lacks von Willebrand factor, which helps the blood to clot.

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Rare Disease Day

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Today is Rare Disease Day!

NORD is the official US sponsor of Rare Disease Day®, which occurs on the last day of February each year. On Rare Disease Day, millions of patients and their families around the world share their stories to promote awareness of the challenges, hopes and needs of those living with rare diseases.

A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time. 80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative. 50% of rare diseases affect children.

Over 6000 rare diseases are characterised by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease.

Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment. Quintessentially disabling, the patients quality of life is affected by the lack or loss of autonomy due to the chronic, progressive, degenerative, and frequently life-threatening aspects of the disease.

The fact that there are often no existing effective cures adds to the high level of pain and suffering endured by patients and their families. Doctors are taught, "when you hear hoof beats, think horses not zebras." This is why those with rare diseases often refer to themselves as zebras and wear zebra print awareness pins.

#rare #raredisease #rarediseaseday #disease #disorder #genetic #geneticcondition #geneticdisorder #zebra #zebraprint #awareness #cure #treatment #medicine #uncommon #illness #chronicillness #chronicpain #personalizedcause