Diagnosed with a rare cancer: Now what?

Receiving any type of cancer diagnosis can be stressful, even if it’s a common or well-known disease, such as breast cancer, lung cancer or prostate cancer.

But what if your cancer diagnosis is labeled “rare?” Are there any special considerations you should keep in mind when deciding on where to be treated? And which questions should you be asking your doctor to make sure you’re in the right place and receiving the right treatments?

We spoke with gastrointestinal medical oncologist Daniel Halperin, M.D., who specializes in rare neuroendocrine tumors, for insight. Here’s what he wants patients and caregivers facing a rare cancer diagnosis to know.

So, what makes a cancer rare? And how does that differ from an “orphan” disease?

The National Cancer Institute (NCI) defines a rare tumor as something diagnosed in fewer than 15 out of every 100,000 people in the Unites States each year. An “orphan disease” is one that affects fewer than 200,000 people currently living in the United States.

I tend to go by the NCI’s definition, because it’s specific to cancer and has implications for research funding. But the term “orphan disease” also has important implications for the process of bringing new treatments to patients. So, those of us who are focused on clinical trials have to keep both in mind.

How does having a rare tumor affect your prognosis and treatment?

It really depends on your particular situation and where you choose to go for cancer treatment.

When a tumor is rare, it can often be more difficult to diagnose — and more easily misdiagnosed — because the pathologist looking at tissue samples under a microscope may not have seen many cases like it before. It also means that the average doctor — even one who specializes in cancer — may not have seen many patients like you. That, in turn, can impact their awareness of the latest advances in your disease, their comfort level in treating it, and ultimately, the appropriateness of the options they may offer you.

That's why it’s so important for patients with rare cancers to seek treatment at a comprehensive cancer center like MD Anderson, where everyone involved in your care — from the pathologists who review your biopsies to the radiologists who review your scans — is highly specialized in your particular cancer type.

That level of specialization is critical, because we may need to employ tests, such as unusual imaging techniques, that are specific to your type of tumor. And it’s extremely important not only for your doctor be able to order those tests — which may not be available everywhere — but also for the team supporting them to have the experience to know when they should be ordered, how to interpret them appropriately, and what guidance to offer based on the results.

How do I know if my doctor has enough experience in treating rare tumors like mine?

Ask questions. Specifically, ask the doctor:

• How often have you seen this exact diagnosis?
• How many people have you treated with it?
• How experienced is the rest of your team with my type of cancer?
• What’s new in the treatment of this disease?

That last question will be particularly useful in determining how much experience with the disease this doctor really has. Because if they start talking about current clinical trials — versus studies that closed a few years ago or have already published their results — that’s going to give you a better idea of how passionate they are about this disease and what treatment options they have access to.

The reality is that progress is often a lot slower in cancer treatment when it comes to rare diseases — both in terms of new developments and doctors’ awareness of them. So, it’s important to be in a place like MD Anderson that’s at the forefront of research. That way, you know you’ll be getting the very best cutting-edge treatments, based on the latest knowledge.

Even with something incredibly uncommon, we can customize a treatment plan just for you. And that’s something less-experienced places might not be able to do.

What research is being done in rare tumor treatment?

My colleague, Kanwal Raghav, M.D., and I just led a study that explored whether the immunotherapy drug atezolizumab and the targeted therapy drug bevacizumab could be more effective when used together, in treating peritoneal mesothelioma, a rare cancer of the lining of the abdomen.

Another study, led by Maria Cabanillas, M.D., focuses on the use of immunotherapy combinations in patients with a rare and aggressive type of thyroid cancer.

And a third study, under Milind Javle, M.D., led to the Food and Drug Administration’s (FDA) recent approval of a targeted therapy drug called infigratinib. It’s being used to treat patients with a specific, rare subtype of bile duct cancer, called cholangiocarcinoma.

Studies like these are only possible in an environment like MD Anderson, where experts and technologies are brought together with patients who need new therapies.

What other resources are available for patients with rare tumors?

• myCancerConnection: MD Anderson’s one-on-one cancer support community is a really good resource. It connects patients and caregivers with survivors who’ve faced the same diagnosis, so that they can hear from someone who’s actually been where they are. You don’t have to be an MD Anderson patient or caregiver to participate.
• The Learning Center: Staff members are available at our Mays Clinic location to answer questions by telephone, live chat or email. They can also help locate research articles, patient education materials, and other resources, both in print and online.
• Social media groups and forums: A lot of rare cancers have places on the web where patients, caregivers and survivors can find information, support and encouragement. You can also follow MD Anderson on Facebook, Twitter and Instagram to find and connect with other caregivers and patients who are going through treatment right now.

What advice would you give to the caregiver of a patient with a rare cancer?

Ask questions. Get a second opinion. And seek support — both for you and for the patient. 

Many patients with rare diseases find that repeatedly encountering a medical system ill-equipped to answer their questions leads to an erosion of trust. This experience can be extremely demoralizing and very distressing.

I don’t believe anyone can have all the answers, but finding providers and other patients who have experience with your particular illness can be almost as important as any therapy you’re offered.

Request an appointment at MD Anderson online or by calling 1-877-632-6789.