Igniting the conversation about rare diseases
(BPT) - Each year, people across the world are invited to join together to raise awareness about rare diseases. Unlike more common conditions such as diabetes and breast cancer, many of these diseases, as well as the people affected by them, are not recognized by their own awareness initiatives throughout the year.
Yet for people living with rare diseases and their loved ones, the path to a confirmed diagnosis, adapting to new treatment regimens, and facing the day-to-day challenges of these diseases can often be overwhelming.
The goal of Rare Disease Day is to provide awareness of lesser known diseases, and to recognize each respective patient community while highlighting the great strides that are being made in medical research. This year, disease education activities will take place Feb. 28, with local events held across the globe to help build community support and awareness.
By definition, a rare disease is an illness that affects fewer than 200,000 people in the U.S. While individually, each of these approximately 6,800 such diseases in the U.S. are defined as rare, when considered together they impact nearly 30 million Americans or almost one in 10 people, according to the National Institutes of Health.
“Our organization understands the importance of Rare Disease Day and aims to provide a voice for patients and families to bring to light the need for continued development of new treatments,” says Mary Dunkle, Vice President for Communications, National Organization for Rare Disorders (NORD). “For example, people affected by rare diseases such as chronic myeloid leukemia or Cushing’s disease can feel alone, and share the burdens of minimal treatment options.”
Breakthrough research has sometimes put a 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 10 to 15 percent of all adult cases of leukemia, with an incidence of one to two cases per 100,000 people per year. During the past decade, researchers have refined increasingly sensitive tests to detect traces of cancer in patients treated with new medicines.
The rare endocrine disorder, Cushing’s disease is a form of Cushing’s 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 helps the body respond to stress. While incidence is one to two patients per million per year, Cushing’s disease is a serious, debilitating disorder. It most commonly affects adults from 20 to 50 years old and affects women three times more often than men. Cushing’s disease may present with weight gain, central obesity, a round, red full face, severe fatigue and weakness, striae (purple stretch marks), high blood pressure, depression and anxiety. It can cause severe illness and death with mortality up to four times higher than in the healthy population.
Rare Disease Day was originally created by EURORDIS, The European Organization for Rare Diseases, in 2008 and expanded to include the U.S. the following year with help from NORD. Since the inception, there have been significant advances in management of diseases that are defined as rare. The goal is to continue this momentum and keep the conversation going to encourage more progress.