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Rare Disease Day 2014: Recognizing rare diseases and empowering patients to become self-advocates

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Posted: Thursday, February 27, 2014 10:00 pm | Updated: 1:44 am, Tue May 13, 2014.

(BPT) - For the past six years, international Rare Disease Day has served as a day on which hundreds of patient advocacy organizations, patients and their loved ones across the globe join together to highlight the importance of continued focus and research on uncommon and serious illnesses. This year, international Rare Disease Day will be held on Feb. 28.

Rare diseases, including some cancers, are commonly misdiagnosed and undertreated. It often takes years for physicians and patients to reach an accurate diagnosis and implement a proper treatment regimen and disease management plan. People living with these lesser-known yet serious illnesses often feel isolated and overlooked, yet rare diseases present a major health problem – there are more than 6,800 rare diseases, affecting approximately 25 to 30 million people in the US alone.

One example of a rare and life-threatening disease is gastrointestinal stromal tumors (GIST) – a cancer of the gastrointestinal tract (GI) that may not present any physical symptoms in the earlier stages, making it difficult to diagnose and treat. Most GIST develop in the stomach or small intestine.

The diagnosis of GIST is just the beginning of the journey. Here are steps patients and their caregivers can take to become their own advocates:

* Form a healthcare team: A multidisciplinary team of healthcare professionals (e.g., gastroenterologist, medical oncologist, surgeon, pathologist) will ensure that patients and doctors are working together to help achieve the best outcome

* Continue the conversation: Keeping the lines of communication open with a doctor doesn’t have to be limited to office visits: patients should not hesitate to ask questions or reach out to healthcare professionals with questions, comments or concerns

* Determine a disease management plan: Patients can work with their team on a tailored disease management approach

* Connect with a support network: Online or live support groups help patients connect with others and exchange personal experiences

“It is critical to involve a team of health care experts to receive an accurate diagnosis and establish an effective disease management plan. It is equally important in the patient’s journey to seek emotional support,” says Dr. Shreyaskumar Patel, of the University of Texas M.D. Anderson Cancer Center. “Family, friends, patient advocacy groups and reliable online patient resources can make a significant and positive impact on an individual’s outlook.”

For some rare cancers, like GIST, there are a number of online resources, including the GIST Network YouTube Channel, an online educational resource developed by Novartis Oncology that features stories from patients and tips from medical experts to support people living with GIST and their caregivers. Listening to and understanding other patients’ journeys can enable patients to feel empowered and act as their own advocates throughout their journey.

For more information about GIST and to hear other patient stories, please visit the GIST Network Channel on the Novartis YouTube Channel:  http://www.youtube.com/GISTNetwork.

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