For people with a rare and serious disease, the journey to getting an accurate diagnosis and confirming a proper treatment regimen can be arduous. Rare diseases, including some cancers, can be difficult to diagnose because symptoms are often misleading, misunderstood or misinterpreted. As a result, it can sometimes take years for patients to reach a correct diagnosis and begin the path to proper care.
In order to raise awareness of rare diseases and the specific challenges faced by patients and their loved ones, February 29, 2012 has been designated as Rare Disease Day. On this day, hundreds of patient organizations from more than 40 countries come together to honor the fifth annual international Rare Disease Day. These groups will hold events around the world to drive awareness of lesser-known illnesses under the theme of “Rare but strong together.” By joining together, patients and their families will have one unified voice to help spread awareness throughout the world.
There are more than 6,800 rare conditions, affecting an estimated 25 million Americans and about 250 million people worldwide. Rare illnesses encompass a wide variety of conditions, including cancers, auto-immune disorders, infections, genetic and other diseases. Gastrointestinal stromal tumors (GIST) are a rare, life-threatening cancer that develop in the stomach or small bowel and often do not cause any specific symptoms, making it difficult to diagnose and treat. The exact number of people diagnosed with GIST each year is not known. In the U.S. alone, the incidence of GIST is estimated to be 4,000 to 5,000 new cases each year.
Another rare disease, tuberous sclerosis complex (TSC), is a genetic disorder that may cause non-cancerous tumors to form in vital organs, most commonly the brain and kidney as well as the heart, lungs and skin. Many patients show evidence of the disease as infants.
“TSC can have a significant impact on the quality of life of children and adults with the disease, as well as that of their families,” says Jennifer Schillig, mother of a 6-year-old girl with TSC. “Bringing greater awareness to this and other less common diseases is important to create better understanding and education about the challenges facing the rare disease community.”
Although there are many different types of rare diseases, many patients and families report common feelings of isolation and frustration, noting a lack of overall attention to these life-threatening diseases from the medical community and society at large compared to other illnesses.
“Rare Disease Day is a much-needed day to bring light to the fact that many people are facing the challenges of uncommon illness, while feeling isolated and alone,” says Peter L. Saltonstall, president and CEO, National Organization for Rare Disorders (NORD). “Some rare diseases have patient populations of fewer than a hundred, but it is important to give equal recognition to those who suffer from these less common but just as devastating illnesses.”
Researchers have made considerable progress in recent years in improving the understanding, diagnosis and even prevention of a variety of rare diseases. With the scientific, medical, industry and patient communities working together and focusing on these often overlooked diseases, much more can to be done to advance patient care.
“Our research priorities have always been determined by patient need, no matter how many patients, or how few, are affected by a single disease,” says Herve Hoppenot, president, Novartis Oncology. “That’s why we continue to develop therapies to advance care for patients in disease areas that may be overlooked. Rare Disease Day serves as an important annual milestone in bringing greater focus to patients with conditions that deserve attention.”