Posted June 18, 2013 by Carol Martin in Community

Igniting the conversation about rare diseases

Every year, men and women across the globe are invited to join with each other to raise awareness about rare diseases. In contrast to far more typical situations such as diabetes and breast cancer, several of these diseases, as properly as the men and women impacted by them, are not recognized by their own awareness initiatives throughout the year.

But for folks living with rare illnesses and their loved ones, the path to a confirmed diagnosis, adapting to new therapy regimens, and facing the day-to-day challenges of these illnesses can often be overwhelming.

The objective of Uncommon Disease Day is to provide awareness of lesser identified ailments, and to recognize each and every respective patient community although highlighting the wonderful strides that are becoming produced in healthcare investigation. This year, illness education activities will take location Feb. 28, with neighborhood events held across the globe to aid create community support and awareness.

By definition, a uncommon illness is an illness that affects fewer than 200,000 folks in the U.S. Although individually, each and every of these around 6,800 such ailments in the U.S. are defined as uncommon, when considered together they impact almost 30 million Americans or almost one particular in ten individuals, according to the National Institutes of Wellness.

&ldquoOur organization understands the value of Uncommon Disease Day and aims to offer a voice for sufferers and households to bring to light the need for continued improvement of new treatment options,&rdquo says Mary Dunkle, Vice President for Communications, National Organization for Uncommon Disorders (NORD). &ldquoFor example, men and women impacted by rare diseases such as chronic myeloid leukemia or Cushing&rsquos disease can feel alone, and share the burdens of minimal treatment possibilities.&rdquo

Breakthrough analysis has at times put a far more public face on rare diseases, such as chronic myeloid leukemia (CML), a cancer of the blood and bone marrow characterized by the presence of an abnormality called the Philadelphia (Ph) chromosome. Worldwide, CML is responsible for ten to 15 % of all adult cases of leukemia, with an incidence of one particular to two cases per one hundred,000 individuals per year. During the previous decade, researchers have refined increasingly sensitive tests to detect traces of cancer in patients treated with new medicines.

The rare endocrine disorder, Cushing&rsquos disease is a kind of Cushing&rsquos syndrome, in which excess cortisol production is triggered by the presence of a non-cancerous pituitary tumor. Cortisol is a vital hormone that regulates metabolism, maintains cardiovascular function and assists the physique respond to pressure. Even though incidence is a single to two sufferers per million per year, Cushing&rsquos disease is a significant, debilitating disorder. It most typically affects adults from 20 to 50 years old and affects women three occasions a lot more usually than males. Cushing&rsquos disease may possibly present with weight achieve, central obesity, a round, red complete face, extreme fatigue and weakness, striae (purple stretch marks), higher blood pressure, depression and anxiousness. It can trigger extreme illness and death with mortality up to 4 instances larger than in the healthy population.

Uncommon Illness Day was originally created by EURORDIS, The European Organization for Rare Illnesses, in 2008 and expanded to include the U.S. the following year with assist from NORD. Considering that the inception, there have been considerable advances in management of illnesses that are defined as rare. The goal is to continue this momentum and maintain the conversation going to encourage a lot more progress.

To discover a lot more information about CML, visit www.CMLEarth.com. To discover more about Cushing&rsquos disease, go to www.cushingsdisease.com.

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Carol Martin