What to do After Getting Diagnosed

What patients and families need to know following a rare disease diagnosis.

Image of Doctor and Patient

Everyday life can be overwhelming. Add in a diagnosis of a rare disease, and you might find your head spinning with questions. Why me? How did this happen? What am I going to do? Will I or my child have a normal life? These are all common things people may find themselves asking after finding out their or their child’s condition.

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Though it can be daunting, patients and families can get themselves organized and find the resources they need to live and thrive with a rare disease. But what are some of the first steps newly diagnosed patients should take? Dr. Mittie Doyle, a rheumatologist and a Global Therapeutic Area Head for Transplant, Immunology and Critical Care at CSL Behring and Kim Phelan of The Coalition for Hemophilia B had a few tips to share:

Breathe, Then Learn: Take a moment to process everything you have been told and then find out more about your condition. “The first step is to understand your diagnosis as well as the available treatment options,” Doyle says. Patient knowledge is powerful and a key focus of patient advocacy groups, like the Coalition for Hemophilia B. For parents of newly-diagnosed children, Phelan says one of the first steps the Coalition takes is to get them up to speed. “We tell them about everything that’s available,” she says. “We don’t pick and choose. We say here’s all the information.”

Connect With the Community to Know You’re Not Alone: There’s a lot to learn when you or someone you love is diagnosed with a rare disease. But Phelan boiled it down to this: No one does it alone.

Seeking out patients and families fighting a similar battle can be helpful in a number of ways. Those who have been through the process can point newly-diagnosed patients in the right direction for help. As Phelan puts it, you can turn to your family for love and support, but you can also create “a second family” of people who understand exactly what you’re going through.

Find Treatment Options: Exploring where to go for help is a crucial step in getting a handle on your condition. Dr. Doyle says patients “need to identify a physician or clinic that fully understands the disease and all the components of it in order to get optimal care.” Phelan says people need to ask many questions of their doctors, fellow patients and patient groups to become as informed as they possibly can be.

Compare Notes: By staying connected with the patient community, patients and their families can stay informed about treatments, providers and other resources available to help manage their condition. Phelan says patient groups are there if patients and their families aren’t finding helpful answers to their questions. “We’ll hook people up and give them names of second opinion doctors or whatever we need to do,” Phelan says.

Find Your New Normal: Once your treatment plan is in place and your schedule of medicine is set, Phelan says you can begin to adjust to your new lifestyle. Your responsibilities, dreams and hopes will shape themselves around your focus of staying healthy.

Stay Involved: Thanks to social media and active patient groups, managing a rare disease doesn’t have to be an isolating experience. Interacting with other patients can provide both emotional support and empowerment. They’re fighting the same day-to-day battles that you are, she said.

As Phelan stated, “No one can do it alone.”