Coping With a Rare Cancer Diagnosis, Like GIST

Dr. Breelyn Wilky discusses challenges that patients with GIST face and shares advice with those who feel overwhelmed by the rarity of their condition.

Patients diagnosed with gastrointestinal stromal tumor (GIST) should seek care from a specialist who regularly treats this rare disease, according to Dr. Breelyn Wilky, who added that this may help them feel less isolated when dealing with a rare cancer diagnosis.

“You are not alone. Rare tumors are not rare to the people who have to live with them, or to the doctors who treat them… There are other patients like you out there,” Wilky, an associate professor of medicine in the Department of Medical Oncology at the University of Colorado, Anschutz Medical Campus, said in an interview with CURE.

In the interview, she expanded on the unique challenges that patients with GIST face, as well as shares advice with patients who are newly diagnosed and feel overwhelmed by the rarity of their condition.

Additionally, she serves as the director of Sarcoma Medical Oncology, deputy associate director for Clinical Research, and the Cheryl Bennett and McNeilly Family Endowed Chair in Sarcoma Research at the University of Colorado Cancer Center, UCHealth.

CURE: What unique challenges do patients face with rare cancers like GIST? How are researchers working to overcome these challenges?

Wilky: There are many challenges when you're diagnosed with a rare cancer. First of all is the awareness piece, so making sure you actually get diagnosed with the right rare cancer is super important. When you're first presenting with symptoms, they can sometimes be very vague, like, “Oh, I've got some abdominal pain,” or “I've had some heartburn,” or “I feel more tired than usual.” These are very, very vague things, with about 99.9% of the common reasons for people to feel this way not being GIST. So, even getting to the point of thinking this patient might have cancer based on symptoms, if they even have any symptoms at the time they present, that's a big leap. Then to go from something people might assume, “Oh my gosh, what if I have pancreas cancer, or stomach cancer, or colon cancer?” These are much, much more common than “What if I have a GIST tumor that happens to be coming out of my small bowel and causing this weird bloating sensation I've been having?” So, part of it is knowing this is a thing, knowing that this is an entity, and it's rare, but that there are patterns to it and that it can be diagnosed.

Sometimes it gets confusing, and so we say ‘tissue is always the issue,’ which means if you have a scan or symptoms that are concerning for GIST, they will normally do a scope to get tissue and get that biopsy. It's super important to have that biopsy reviewed to confirm that there is a GIST there. Sometimes it's very difficult to tell, and so it needs to be sent out for a second opinion for the pathology. Getting that molecular testing, or knowing the genetics of where your mutation is in your GIST, is super important for therapy.

So, if you're going to start some kind of therapy, we recommend that everyone gets their tumor tested, if at all possible. Sometimes the initial biopsy is very small, so it might not be possible. Talking with your doctors about, “You know, should we get a second biopsy? Should we try this again?” These are all things that will come up. But really, I think those are the main takeaways.

What advice would you give to someone newly diagnosed with just who may feel overwhelmed by the rarity of their condition?

You are not alone. Rare tumors are not rare to the people who have to live with them, or to the doctors who treat them, for that matter. I think the key things are to recognize that there are other patients like you out there, and particularly when you're newly diagnosed, getting support from other patients is crucial. There are multiple Facebook groups and social media platforms where you can connect with patients from all over the world who can be sources of advice. Some of it's helpful, some of it's not, so you have to figure out what works for you.

The patient advocacy group, The Life Raft Group, is incredibly important and helpful. They have been doing this for 25 years, really helping patients live with GIST, learn about treatments, and get to the right doctors and specialists. So, I highly recommend to all my new patients checking out The Life Raft Group's webpage and making contacts there.

How important is it to seek care from a specialist or a sarcoma center, and what advice would you give to those who live far from these institutions?

[You should always] get yourself an expert. This is like anything else: if you needed heart surgery, you would find a surgeon who has done many heart surgery procedures. You probably wouldn't pick one who had only done one or two in the last year, right? So, expertise and familiarity matter. My patients will tell me when they come to see me what a relief it is to talk with somebody where, literally, a third of my clinic, a third of the patients I see, are GIST patients. It's not rare to me, and I have that conversation multiple times every single day that I'm in clinic about treatment options, what the clinical trials are, and how we've approached it.

I think that is natural, and I think that's something you really want to think about. It doesn't have to be every single visit. It doesn't have to be every blood work check for your Gleevec. You can partner with doctors who are close to you, but in addition to being able to go to a sarcoma center and have that second opinion, there are groups out there, like the Sarcoma Foundation of America, that have grants available for you to travel and be able to get to a sarcoma center for a second opinion.

Even if finances are tight or you live in a very rural area, there are groups out there that want you to have that opportunity. The vast majority of patients find that incredibly helpful and reassuring, even if they're going to get treatment close to home, just to have seen someone where this is not that rare to them.

Transcript has been edited for clarity and conciseness.

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