The Tribune

Getting a diagnosis of any cancer can be frightening, but for those diagnosed with a rare cancer, the emotional toll can be much worse. For some of these patients, the journey to a correct diagnosis may take years, and once they receive an accurate diagnosis, it can be extremely difficult for these patients to find accurate information on their disease. One of the first things patients do is research everything they can about their illness, including connecting with someone who is also living with the disease, and learning their options for disease management and treatment.

One particular rare disease that may take years to diagnose, is a cancer of the gastrointestinal (GI) tract called gastrointestinal stromal tumors or GIST. These tumors often do not cause any specific symptoms, making GIST difficult to diagnose. 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 up to 6,000 new cases each year.

“Many cases of GIST are discovered in urgent situations when patients are brought to an emergency room. This may results in significant complications since in these cases the disease is often at an advanced stage,” says Dr. Jonathan Trent, Sylvester Comprehensive Cancer Center at the University of Miami. “Through increased awareness, GIST and many other rare diseases may be able to be diagnosed sooner, potentially providing patients with disease management regimens earlier in their illness.”

Thanks to dedicated research and awareness initiatives by patient advocacy organisations and the medical community, there have been significant advances for patients living with GIST in recent years. Increasing awareness for rare diseases is paramount in helping patients get the right diagnosis and information about their illness. Organisations like GIST Support International are helping patients learn more about their disease every day.

“I have actively participated in GIST awareness following my own diagnosis in 1997, when the medical community had limited understanding of this disease, and there was no disease information available for patients, says Marina Symcox, GIST Support International. “At the time, I was able to find out some information from a local patient support group, and later decided to make disease education for other patients my personal mission.”

Because they are passionate information seekers, many patients living with rare diseases and their loved ones act as their own advocates in learning more about their disease and in helping to form their own multidisciplinary care team. With GIST specifically, this care team should include the diagnosing physician, a specialized oncologist and pathologist to work alongside the devoted caregiver or loved one. Each member of this multidisciplinary team has a unique and vital role in helping the patient cope with his or her disease.