Imagine the worst illness you ever suffered that rendered you unable to tackle your daily routine; the insurmountable fatigue, pain and host of other symptoms you could not wait to get over. Now imagine suffering from seemingly unconnected symptoms for months or years without answers.
This is the reality for an estimated 1 in 30 people in the United States suffering from a rare disease. These patients have many common threads in their stories. They visit dozens of specialists, undergo scan after scan, are poked and prodded hundreds of times — in the hope to find answers. When the long-awaited diagnosis is something they never previously heard of, relief is short lived. And with such a lack of information and little research, it’s easy to understand why these patients feel overwhelmed.
Luckily, there is hope. Patients have many opportunities to ensure their voices are heard. It is the patient’s right and responsibility to ensure that does happen. A rare disease diagnosis doesn’t resign you to being a medical mystery. Informed patients hold the key to better treatments and a cure.
1. Find and share good information
A patient who actively seeks information on their diagnosis will feel more empowered to discuss treatment options with their doctors.The challenge, however, is that there’s a lot of misinformation online. But there are some tricks to finding good sources. For one, be wary of websites that market a specific product. Look for citations and links to original sources. Don’t be afraid of scientific papers. And look to websites of universities and government organizations; these are more likely to be dedicated to public education. If you find something relevant to your diagnosis, share the resource with your care team to ensure you’re on the right track.
2. Ask questions
Patients who suffer from rare diseases become harder to overlook when they ask tough questions. While we expect that the training physicians receive will position them to help any patient, it’s not possible for them to be experts on every diagnosis. Asking questions about all treatment options, clinical trials for which you might qualify and what the latest research says forces doctors to dig deeper. Don’t become complacent with a lack of answers.
3. Inform your community and get involved
Share what you are going through with loved ones and help them understand ways in which they can help. Do you need a ride to an appointment? Is your friend better at combing through scientific papers? Need to get your mind off things? Put their strengths to work. You can also get involved with organizations focused on medical research and patient advocacy. Whether participating in a clinical trial, hosting a fundraising event, or connecting with other patients in your community, your efforts can help advance research and improve care for patients.