Helping Rare Disease Patients Find the Right Care

More than 7,000 known rare diseases afflict patients in the U.S., making the process of obtaining an accurate diagnosis and finding the right specialist inherently lengthy and difficult for them. From the very start of their journey, patients with rare diseases face challenges that can cause delays in diagnosis and treatment.

Those delays can cause substantial economic impact. It takes an average of six years for someone with a rare medical condition to receive an accurate diagnosis, which can add up to as much as $517,000 in avoidable costs, according to a study from the nonprofit EveryLife Foundation for Rare Diseases. The financial consequences of delayed diagnosis range from paying for more frequent doctor visits and expensive medical equipment to requiring daily care and more—all of which could be avoided with earlier diagnosis.

Delays in finding the right specialist also take a toll on patients’ physical and mental health outcomes. On average, it takes nearly 17 clinical encounters to receive a rare disease diagnosis after symptoms begin. For many rare disease patients, burdens in the diagnostic journey don’t end there.

Nearly two-thirds (65%) report being misdiagnosed before finally receiving the correct diagnosis, according to research from MediFind and Rare Patient Voice. All this time spent waiting for answers about their symptoms and searching for the right care takes time that could be spent preventing or slowing disease progression.

However, digital tools can play a key role in providing much-needed support for rare disease patients as they seek care.

Narrow Initial Provider Search

Finding a specialist with experience and expertise in a patient’s particular rare condition is essential for speeding up their time to diagnosis. Yet, with thousands of rare diseases, undiagnosed patients might not know what type of specialist they should be looking for.

Digital tools can narrow the initial search for a provider by using a survey of symptoms to help undiagnosed patients identify the type of expertise they may need. From there, patients can book an appointment with a provider who has more knowledge of their specific symptoms and potential testing options to help lead them to an accurate diagnosis.

Find the Right Specialist

After finally obtaining a diagnosis, patients with rare diseases might feel overwhelmed as they process their new reality. Most often, their next hurdle becomes finding a provider with the precise expertise needed to help them get on treatment. At this point, relying on referrals isn’t always a viable option as most physicians aren’t connected with experts in many individual rare diseases. Additionally, it’s challenging for patients with rare diseases to find a specialist with expertise in their specific condition who also is geographically and financially accessible to them.

To help bridge educational gaps that overwhelm patients who are searching for specialty care, doctor finder tools can be integrated into consumer-facing websites, whether branded or unbranded, so that patients have a single, reliable information source to search. By helping them more quickly find the right specialist based on their condition, location, and insurance needs, patients living with rare diseases can get the appropriate perspective on treatment options and learn about innovative therapies that may treat their condition.

Deliver Tailored Support

In addition to helping patients find and access appropriate care, industry stakeholders can also use digital platforms to provide educational resources to rare disease patients before they see their provider. Meeting patients with tailored content such as doctor discussion guides when they’re in a healthcare mindset not only helps increase their understanding of their rare condition, but also empowers them to more actively participate in discussions with their doctor to lock in a treatment plan that’s right for their needs.

1. [FDA Rare Diseases](
2, 3. [EveryLife Foundation Delayed Diagnosis Study](
4. [MediFind Report on Diagnostic Journey](


  • David Linetsky
    David Linetsky

    Senior Vice President of Life Sciences Phreesia

    David Linetsky is Senior Vice President of Life Sciences at Phreesia. A leader in patient activation, Phreesia gives life sciences companies the tools to help patients take an active role in their care at every stage of their healthcare journey. David can be reached at


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