Navigating rare diseases: Strategies for diagnosis and treatment

Strategies for navigating the diagnosis and treatment of a rare disease

In the community of people living with a rare disease, the process of getting an accurate diagnosis and finding treatment is often referred to as the ‘rare disease odyssey.’ This term applies to conditions that few doctors have even heard of, let alone encountered, and for which treatments have often not yet been developed. As the name suggests, this process can be long, complicated, and challenging. Receiving a definitive diagnosis can take years.

A rare disease, which can also be referred to as an orphan disease, is one that affects fewer than 200,000 people in the U.S. or about 60 out of every 100,000 people. Although that number may seem small compared to the number of people diagnosed with more common conditions like colon cancer, with more than 100,000 people diagnosed each year or one in four people diagnosed with this cancer during their lifetime, there are approximately 30 million people in the U.S., living with a rare disease.

What is a rare disease?

There are currently more than 6,800 diseases that fall into the category of rare diseases. Some you’ve possibly heard of, like Huntington’s disease and Duchenne muscular dystrophy. Others are more mysterious, like adrenomyeloneuropathy (a neurodegenerative disease) and Pompe disease (a genetic condition where glycogen builds up in the tissues and organs).

Up to 80% of rare diseases are genetic and approximately 2/3 of the people living with these diseases are children. In some cases, the condition is apparent at birth, but in others symptoms develop over time.

Environmental factors, including diet, smoking, and chemical exposure, can also play a role in the development of rare diseases. In some cases, exposures cause the disease. In others, these factors interact with genetic factors to cause the disease or make its manifestation more severe.

There are several reasons the process of diagnosis takes as long as it does. Many of the diseases share symptoms like weakness or dizziness with other common conditions that physicians are more familiar with. Because healthcare providers are trained to consider the most common conditions first, the possibility of a rare disease may not be on their radar.

In addition, because a significant percentage of rare diseases have a genetic root cause, if your physician does not include genetic testing as part of the diagnostic process, you will be missing a key piece of the diagnostic puzzle.

Getting the right diagnosis and support for a rare disease

If you or a loved one has been living with symptoms that your healthcare team can’t connect to a definitive diagnosis, you may be living with a rare disease. There are several steps that can help you get an accurate diagnosis and the support you need to manage your condition:

• Get a second (third or fourth) opinion: If the physicians you’ve consulted have not been able to reach a diagnosis, seek additional medical opinions from physicians with expertise in rare diseases. The National Organization for Rare Disorders has developed a network of rare disease medical centers of excellence. Your PinnacleCare Health Advisor is another resource you can turn to for connections to specialists who are experienced with rare diseases.
• Learn about potential diagnoses: Your Health Advisor and PinnacleCare medical experts are also good resources for evidence-based information about potential diagnoses. In addition, there are a number of databases you can use to research rare diseases. The NIH created the Genetic and Rare Diseases (GARD) Information Center, which includes an online tool where you can search by disease category, name, and keywords. The National Organization for Rare Disorders also has a searchable database of rare diseases.
• Prepare for your appointment: To ensure that any specialist you consult has all the information needed, share your complete medical record and family history. People living with a rare disease often have large, complex medical records with information from many physicians, labs, imaging facilities, and other healthcare providers. Review your medical record for accuracy and share the information with each physician you see. Keep and share a record of all the symptoms you’ve experienced over time; how severe the symptoms are; whether they’ve gotten more severe or changed over time; and anything that seems to make symptoms worse or more tolerable. Your Health Advisor can collect, organize, and coordinate your up-to-date medical records between all of your specialists, completely taking what can be an overwhelming task off your hands.
• Consider clinical trials: Since approximately 95% of rare diseases do not currently have an approved treatment, you may want to consider taking part in a clinical trial of a treatment. You can find a list of clinical trials online and ask your physician and Health Advisor about available trials.
• Connect with support: Living through the rare disease odyssey or with a rare disease diagnosis can be exceptionally challenging. Connecting with patient support and advocacy groups can be an opportunity to share experiences, advocate for more research, and increase awareness. Some organizations to explore include EveryLife Foundation, Global Genes, and the National Center for Advancing Translational Sciences. Your physician and Health Advisor may also be able to provide information about support groups.

Get dedicated support from PinnacleCare throughout your healthcare journey

When trying to get an accurate diagnosis or trying to manage living with a rare disease, you need to spend your time and energy focused on your health. With PinnacleCare, we take on the challenge of getting you access to the best care, while also managing all the burdensome tasks for you that come along with healthcare, like gathering medical records and scheduling appointments. Connect with our membership team today to learn more about how PinnacleCare can support you.

PinnacleCare is a member of the Sun Life Financial Inc. (“Sun Life”) family of companies. PinnacleCare and its employees do not diagnose medical conditions, recommend treatment options or provide medical care, and any information or services provided should not be considered medical advice. Any medical decisions should be made only after consultation with and at the direction of your medical provider. Any person or entity who provides health care services following a referral or other service provided does so independently and not as an agent or representative of PinnacleCare.

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