Alexion Pharmaceuticals, Inc. (Nasdaq: ALXN), joins the European Organization for Rare Diseases (EURORDIS), the National Organization for Rare Disorders (NORD) and patient organizations worldwide in celebrating Rare Disease Day 2013, a global effort to focus attention on rare diseases, their profound impact on patients, and the need for improved diagnosis and treatment. The theme of this year’s celebration, “Rare Disorders without Borders,” aligns with Alexion’s mission of developing and delivering life-transforming therapies for patients worldwide who suffer from severe, life-threatening diseases that are ultra-rare.
“On Rare Disease Day, we are breaking isolation and raising awareness. Patients worldwide are not alone. We urge all stakeholders to reach across borders and find common solutions to living with serious, chronic and life-threatening rare diseases,” said Yann Le Cam, Chief Executive Officer, EURORDIS. “Working together we can promote rare diseases as a public health priority, so to improve patients’ access to diagnosis and treatment.”
Many rare and ultra-rare diseases are chronic, progressive and marked by continuing pain, severe disability and high mortality rates. Diagnosing and managing these rare diseases is often made difficult by a lack of scientific knowledge, research and medical innovation. Few physicians are familiar with diagnosing and treating these illnesses, which frequently leads to missed, delayed or inaccurate diagnoses even when an approved, effective therapy is available. 1 Because of this, it is important to educate the medical community through disease awareness programs and diagnostic initiatives to identify patients suffering from rare and ultra-rare diseases as early as possible.
"Like many patients coping with a rare or ultra-rare disease, it took several months for our daughter to get an accurate diagnosis,” said Denise Schmidt, mother of a young adult diagnosed with atypical hemolytic uremic syndrome (aHUS), a chronic, ultra-rare and life-threatening disease that can progressively damage vital organs. “Increasing awareness among physicians and patients is a vital first step to ensuring our loved ones receive the best treatment and care.”