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From Diagnosis to Treatment: The Difficulties Rare Disease Patients Encounter

According to the National Institutes of Health (NIH), approximately 7,000 rare diseases affect between 25 and 30 million Americans (almost 1 in 10)1. In general, it is often difficult and time-consuming to diagnose a rare disease. As Tom Shaughnessy, SVP of Payor Services & Managed Care, Orsini Specialty Pharmacy, states, “The average diagnosis for a rare disease takes six years and can require consultations with up to 12 specialists performing multiple tests.

Many rare disease patients undergo a prolonged diagnostic journey, termed the “diagnostic odyssey,” to obtain an accurate diagnosis.2 During this journey, patients might have unnecessary tests and procedures, receive the wrong diagnosis, and experience delays in getting effective care. This can result in patients experiencing irreversible damage as the disease progresses, as some may miss points in time when interventions could have helped.

According to the National Organization for Rare Disorders (NORD), there are many common issues patients can face with rare diseases, in addition to the difficulty in obtaining an accurate diagnosis, that include3:

  • Limited treatment options
  • Little or no research is being done on the disease
  • Difficulty finding physicians or treatment centers with experience in a particular disease
  • Paying for treatments that are generally more expensive than those for common diseases
  • Reimbursement issues related to private insurance, Medicare, and Medicaid
  • Difficulty accessing medical, social, or financial services or assistance because those making the decisions are not familiar with the disease
  • Feelings of isolation and of having been abandoned or “orphaned” by our healthcare system

Even when a patient is accurately diagnosed, less than half of rare diseases map to an International Classification of Disease (ICD) 10 code, with far fewer (less than 20%) having a specific ICD 10 code, resulting in most of them being under-recognized and under-counted within healthcare system databases.

In addition, several downstream effects can impact a diagnosis, including imprecise coding of rare disease patients, poor tracking and understanding of rare disease patients and the diseases themselves, and many specialists performing multiple tests to uncover a diagnosis.

Taking all of this into account, it is imperative to properly evaluate and choose a specialty pharmacy partner that can provide the optimal experience and support for your rare disease patients. Learn more about how Orsini Specialty Pharmacy partners with payors and patients.

Click here to download our new whitepaper detailing what payors should consider when evaluating a specialty pharmacy partner.