road, path, street

Navigating the challenges of patient support in rare and orphan diseases

By Nareda Mills and Christopher Savage

Creating an optimal experience to drive patient adherence to, and persistence with, treatment can be challenging for a multitude of reasons. Challenges may include prescription cost; behavioral, cultural and social attributes; access to treatment; the list goes on.  Faced with 81 million prescriptions abandoned at the pharmacy by patients starting new therapies in 2021, and with these abandonment rates likely to continue increasing based on cost factors alone, the industry is compelled to do better.1 Never has this been more apparent than with supporting the 30 million Americans suffering from approximately 7,000 rare and orphan diseases.2

The difficulties and often arduous journey of reaching diagnosis for those suffering with rare and orphan disease, coupled with the complexities in access and administration of the targeted therapies, create stressors and anxieties that most patients must overcome to even start their treatment. Pair this with a population navigating an extremely complex healthcare landscape, and the pharma industry is facing an opportunity to overcome rare and orphan disease patient resistance and build long-term relationships through support programs specifically designed to best serve these populations and improve patient outcomes.

Creating the best program design

With huge investments in research and development to create impactful medicines to treat these diseases, but with patient populations under 200,000 for any given rare and orphan disease, we must plan strategically to best tap organizational and/or partner resources to serve these patients. Planning should start with market research, competitive information, market insights and field information on the particular disease to create a “single source of truth” from which an organization can build an impactful support strategy.3 Building on this basis, planning should then integrate the goals and objectives of all internal stakeholders and align them with those of the patient, care partner and HCP on all the touchpoints throughout the diagnostic and treatment journey. Market access and HEOR, brand, medical and pharmacovigilance teams will all expect different outcomes and use program data in different ways, but all must value organizational integration to deliver a truly impactful support program. By aligning the organization cross functionally in this way to meet patient, care partner and HCP needs, you can prioritize addressing short-term challenges for quick wins and then move on to longer term strategic solutions.

Focus on the patient should be top of mind during the entire planning process – whether adult or child. It is important that we address the “moments that matter” to patients and their care partners along with their key pain points in order to structure ongoing engagements that will resonate and to support them with the tools and guidance needed to overcome their challenges. Never once and done, these support plans need to respond continually to the touchpoint at hand and should draw upon data derived from these interactions to delve deeper to design engagements continually responding at the individual level. Personalization is key, and as an industry we need to look at the success rate of other consumer-facing industries in building customer loyalty. According to a November 2021 report by McKinsey, “71% of consumers expect companies to deliver personalized interactions, and 76% get frustrated when that doesn’t happen.”4 Rare and orphan disease patients are often already frustrated. Support programs need to diffuse these feelings, not exacerbate them to best encourage adherence and persistence. They should always be designed to provide support when and where it is needed and in the required language.

Meeting patient needs and providing access

There are many obstacles that may make it difficult for patients with rare and orphan diseases to obtain a diagnosis, setting the stage for high emotions and healthcare exhaustion when facing treatment. Patients may be required to visit a range of specialist clinics, meet with varied multi-disciplinary healthcare specialists, or travel long distances to obtain a diagnosis. Upon finally receiving a diagnosis, patients are often introduced to new terminology which may be difficult to understand.

Research published in Nuvera’s 2021 PURE Report demonstrated that two out of three patients are concerned about side effects and require education to allay those fears.5 If educational resources are made available to them, they may require further support to navigate and comprehend them. Cultural and ethnic backgrounds can further complicate understanding. All of this must be taken into consideration when putting a patient support plan in place.

In addition, financial concerns run high with rare and orphan disease patients. Treatments developed for such a small population are often extremely costly and not all payers underwrite the costs to the point of affordability. Access to treatment can often take weeks, creating additional stress and anxiety. Further complications arise for patients who may reside in rural or remote areas with limited access to healthcare facilities and pharmacies. Even across urban areas, patients may not have easy access to the treatment, clinics, and specialist providers they need. Some patients may also find it difficult to access treatment due to transportation costs or have mobility issues preventing them from traveling at all.

To be effective in light of these challenges, support programs for patients with rare and orphan diseases must start with a welcome call immediately upon diagnosis. During this welcome call, the first goal of the Patient Navigator is to establish a rapport with the patient that will serve to best support them throughout the treatment journey. The patient navigator should provide education regarding the patient’s symptoms, treatment and possible side effects, and point the patient to other resources that might be helpful in better understanding the disease and its treatment. The patient navigator will need to educate the patient on the road ahead, not only setting expectations on how the treatment will work, but also what will be entailed in obtaining the prescribed treatment. Ultimately, patient navigators need to assure patients that they are their “go-to” support system for the long haul, helping them physically and emotionally navigate the various administrative and financial tasks required in gaining access to treatment.

In addition to understanding where to find their medication, there are many tasks involved with obtaining treatment for rare and orphan disease. There are pre-initiation testing requirements that must be navigated. Once verified, patients need to understand what benefits are available to cover the cost of their treatment. In most instances pre-authorization for benefits will be required. Many times, the payer will deny the coverage and patient navigators can assist with the appeals process from gatekeeper through the final insurance review organization, when necessary, all the while educating the patient on this access process. 

Properly designed and executed patient support plans should also empower rare and orphan disease patients and their care partners to hold meaningful consultations with their HCP to better understand the disease and its impact. In providing educational tools and support for patients, pharma companies can make sure that patients are better equipped to facilitate these productive conversations about their treatment. By ensuring this consistency from onboarding through treatment completion or ongoing adherence, these support plans will help empower patients to control their healthcare journey. They will feel that their experiences are heard and understood, and that they are properly addressing their outcome.

Support plans for rare and orphan disease patients must also incorporate engagements with the HCP. As the frontline with these patients, it is important to make sure that the HCP is properly educated on the resources available on the disease, as well as how payers are addressing treatment reimbursement, so they and their staff can hold meaningful and productive conversation with patients. Traditional field and service reps can provide the scientific details and other educational material needed by the HCP and physician’s office, but field reimbursement reps should be tapped to keep the HCP and office informed on payer policies. 

Getting there from here

The very nature of rare and orphan disease often dictates treatment development from small and emerging biotech companies who can concentrate the needed research resources. However, once ready to launch, navigating the key challenges in rare and orphan disease patient support can be a huge time and resource-intensive process for these pharma companies who are better served concentrating on medicine development. Rather, they can form strategic partnerships to build and implement an appropriate support plan. By harnessing the expertise, resources and infrastructure these partners offer, the pharma company becomes capable of supporting the rare and orphan disease population with the treatment and support required to improve patient outcome.

From program design and rollout to benchmarking analytics for success, these partnerships allow pharma companies to evolve and refine their support to deliver the best possible experience for these rare and orphan disease patients as cost-efficiently as possible.


  1. IQVIA Institute, The Use of Medicines in the U.S.: Usage and Spending Trends and Outlook to 2026, p.34
  2. NIH/Genetic and Rare Disease Information Center (GARD),, accessed January 10, 2023.
  3. Nuvera Treatment Experience Blueprint, a service by Nuvera Life Science Consulting, an Inizio Engage Company,
  4. McKinsey, “The Value of Getting Personalization right – or wrong – is multiplying,”, accessed January 10, 2023.
  5. Nuvera PURE Report, published by Nuvera Life Science Consulting, an Inizio Engage Company,

Nareda Mills is global president, patient solutions; and Christopher Savage is senior VP, global strategy, global marketing, and North American sales at Inizio Engage.