What to Do When You’re Diagnosed With a Rare Disease

What to Do When You’re Diagnosed With a Rare Disease

“Rare disease.”

The words themselves are uncomfortable to hear or say. And when it comes to a diagnosis of an uncommon disorder, information, research and support for patients may be scant.

Fortunately, though a condition may be uncommon, individuals dealing with a rare disease are not alone. And finding connections — a specialist, support group or trusted website — can help.

Rare diseases, even in all of their uniqueness, aren’t that rare when taken as a whole. An estimated 25 million people in the U.S. live with a rare disease, which is defined as a disorder that affects 200,000 people or fewer, according to the National Institutes of Health (NIH). There are more than 6,000 rare diseases out there, and while some are lesser known, others have active support groups, scores of educational information and even annual conferences for patients. In other words, every rare disease is as unique as the patient experiencing it.

We spoke with two Chicago health professionals about what patients should do when they are dealing with a rare disorder. Here’s what they said.


— Take someone with you to your medical appointment

Often, a person who has a rare disease goes on a “diagnostic odyssey,” says Jessica Stoll, a certified genetic counselor and assistant director of the Gastrointestinal Cancer Risk and Prevention Clinic at UChicago Medicine. Because rare diseases can be hard to diagnose, the patient may see a number of doctors before learning what’s wrong, she says.

Stoll suggests that patients take a friend, partner or family member along with them to their appointments. “I think having a second set of ears at the appointment is really important,” says Stoll, who works with patients and families who are at risk for or have hereditary genetic conditions, many of which are rare and revolve around gene mutations. “It’s hard to hear everything and synthesize everything all at once.”

When Stoll meets with patients, she tells them that she will write them a letter that conveys all of the information she just covered. While not every genetic counselor or healthcare professional does that, a patient can request their medical records or notes from the appointment so that they can look back on it later.


— Find out how to best follow up with your doctor

Upon receiving a diagnosis, patients will have a range of responses. Some may be relieved to finally know what’s wrong and to have a treatment plan. Others may feel shocked or blindsided by the diagnosis.

Many patients will have a list of questions, but they may not think to ask them until later. Before leaving the office, ask your doctor how you can get questions answered when they arise.

Stoll says she gives patients her email address and encourages them to call or email as needed. If their concerns are extensive, they can make another appointment.

“If it is a significant enough issue that I feel like I can’t answer those questions in an email, then I’ll request that the patient come back to see me so we can go through all of that information at another clinic visit,” she says.


— Find the right specialist

Because of the uncommon nature of a rare disorder, finding a specialist can be challenging, even in a large city like Chicago. Start by asking your family doctor for names.

“Your physician might not know the expert but they might know someone who does know the expert in that field,” Stoll says. “Or they might know someone at an academic medical center.”

Insurance can add an extra layer to the challenge, because a patient’s policy may not cover the specialist a patient needs to see. “I have patients who sometimes come to see me and say, ‘I just want this expert’s opinion, and I’m willing to pay out-of-pocket for the consultation,’” Stoll says. To avoid breaking the bank, those patients might pay for a one-time appointment with that particular specialist in order to get his or her recommendations and then return to their family physician for regular visits, she says.


— Choose your reading materials wisely

The internet can be a blessing and a curse when it comes to medical conditions. On the one hand, you have access to reams of information. On the other, not all of that information is reliable.

Steven Gitelis, MD, an orthopedic oncology specialist at Midwest Orthopaedics at Rush, treats patients who have osteosarcoma, a rare bone cancer. Osteosarcoma is diagnosed in only 800 to 900 people in the U.S. every year, half in children and teens, according to the American Cancer Society.

Gitelis says he frequently has to correct misconceptions patients have that arise from online reading. “Some come in thinking they have a fatal disease when in fact they do not. Some look at internet information that’s way outdated,” he says. “I have to spend some time undoing what they read on the internet, but it does give them some background on their condition.”

When doing online research, Gitelis says to look for information on government research sites, like the National Cancer Institute, or from respected medical centers and universities.


— Connect with other patients

If a patient is about to undergo a procedure, Gitelis says he or she will sometimes ask to speak with other patients who have been in the same boat. Many times, he’s been able to make an introduction.

“I have a group of patients who have gone through these procedures and say, ‘Hey, doc, if you ever get another patient who needs a similar procedure have them call me,’” he says. “That’s really important support, talking to somebody who’s been through it.” Your doctor’s office may also be able to share information about online and in-person support groups.


— Have hope

Not all rare diseases are severe, and many are treatable. But if you are diagnosed with a disorder that could have a significant impact on your lifestyle, remember that medicine is progressing, and if there’s not a cure today there could be soon.

Gitelis, who has been practicing for 40 years, says that he’s seen remarkable progress in the treatment of osteosarcoma over the course of his career. In the early days, he says, many patients died or underwent amputations. Today, he says, most people are successfully treated and amputation is rare in his practice. “We’ve made great strides,” he says.

Just because a disease is rare doesn’t mean that you’re the only one with it. Finding support and expertise can go a long way to help you deal with a rare disorder.