Paths to Patient Support in Rare Disease

February 28 is Rare Disease Day – an important day to recognize rare diseases and the severe impact they have on the lives of people around the world. While these diseases may be “rare” in comparison to others, they actually affect more people than you might think. Globally, the average prevalence of rare diseases is 1 in 2,500 people. Here in the US, the average prevalence of rare disease is 1 in 1,500, and some estimates suggest nearly 1 in 10 patients in the US have a rare disease.

Although biopharmaceutical researchers have made tremendous progress in advancing innovation for rare diseases, 95% of rare diseases still do not have any treatment options, representing a significant unmet need for patients. People with rare diseases face an uphill battle in so many ways, but there are key areas of support to turn to.

The HCP team

The first line of support for people with rare diseases is their own health care team and other clinical experts. People living with rare diseases visit an average of 7.3 physicians before receiving an accurate diagnosis, according to a recent survey for Global Genes. Most physicians want to be part of finding that accurate diagnosis and treatment, and the HCP’s ability to support the patient and answer questions is vital to ensuring adherence to therapy and to keep patients moving forward.

Global Genes suggests families take an active role in educating themselves and their doctors about genetic testing technologies that may facilitate an accurate diagnosis and potentially lead to effective and appropriate treatment. The organization recently launched the Undiagnosed Patient Program to improve access to genetic testing for undiagnosed patients.

Peer-to-peer support

An important area for support for people with rare diseases is support groups related to their specific rare disease category. With over 7,000 recognized rare diseases, there is a lot of variability in this disease category, and there isn’t a one-size-fits-all approach to support. With these designated support groups, patients can talk to others who are currently experiencing or have experienced the same difficulties and struggles.

The National Organization for Rare Disorders (NORD) has an online database for patient organizations that provide free information and services helpful to individuals and families affected by one or more rare diseases. The database allows patients to search for a specific organization or to search by disease. When combatting a rare disease, it is easy for patients to feel isolated and alone, but there are other people out there going through the same experiences. Support groups help bring people together to remind each person they are not alone in their struggles.

Family support

While patients are certainly the focus of support in cases of rare disease, their families are also going through these difficult processes alongside them. With the genetic implications of some rare diseases, that difficult process may be a part of their lives one day as well. Even if that is not the case, the lack of information and understanding that comes with rare disease can also be difficult for family members. With that in mind, it is important to understand the entirety of a patient’s situation – including the support structure around them. While HCPs and support groups are viable outlets for patients and can be there for patients at most times when they need it, they are not available 24 hours a day. Patient’s families are often the most hands-on in the care process for a reason and helping to support family caregivers can help foster a better environment for patients.

With all that goes into battling rare diseases, patients and their families need a multitude of resources at their disposal. By offering different perspectives on patient experience and creating an understanding of what it really means to be a family caregiver in rare disease, the healthcare industry can continue to meet these patients where they are and give them the chance to take control of their journey.


Ferreira, CR. The Burden of Rare Diseases. Am J Med Genet Part A. 2019; 179A: 885– 892.

Global Genes. Accurate Diagnosis of Rare Diseases Remains Difficult Despite Strong Physician Interest.

NORD. Find a Patient Organization.

PhRMA. Rare Disease by the Numbers.

PM 360. Supporting Treatment in Rare Disease.

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