The Critical Role of Collaboration in Rare Disease Care
By Stephanie Patten, Vice President, Rare Disease and Advanced Therapies, Biologics by McKesson
Rare disease care is not linear, and families need support from coordinated teams across providers, hubs, biopharma and specialty pharmacy to navigate complex treatment journeys.
Key Takeaways
- Rare disease care is not linear. Patients and caregivers face long, uncertain journeys – and they need a coordinated team, not disconnected steps.
- Providers often need added support. Many rare disease prescribers aren’t as familiar with specialty workflows like prior authorizations and hub pathways.
- Specialty pharmacy helps connect the dots. Through clear communication and coordinated clinical support, specialty pharmacy can reduce confusion and make the experience feel more coordinated.
Every patient and journey are unique, particularly in rare disease. And because of that, rare disease journeys can be long and exhausting for patients and their caregivers – whether symptoms appear in adulthood or are identified in‑utero or shortly after birth. Many families spend years moving between specialists, searching for answers. When a diagnosis finally comes – or when a treatment becomes available – it may represent the first real moment of hope in a process filled with uncertainty.
Starting therapy can also introduce new challenges. Patients, caregivers and many providers must navigate processes that are unfamiliar, from prior authorizations to hub enrollment to working with advocacy organizations and foundations for patient and financial support.
That’s why collaboration isn’t just helpful in rare disease – it’s essential. Families need support. Providers need partners. And patients deserve a coordinated team beside them every step of the way.
What is Rare Disease Care?
A rare disease is defined in the U.S. as a condition affecting fewer than 200,000 people – and some affect only a handful of patients nationwide or globally. Collectively, an estimated 25–30 million Americans live with one of the approximately 7,000 identified rare and neglected diseases with a known underlying biological cause, according to the National Institutes of Health (NIH).
Rare disease care is not handled by a single specialty. It spans pediatrics, neurology, nephrology, pulmonology, gastroenterology and many other areas of medicine, including emerging fields like cell and gene therapy. Because these conditions appear so infrequently in clinical practice, many providers may only encounter one or two patients in their careers, making education and practical guidance especially important.
Many rare diseases are serious, progressive or life‑limiting, and for nearly 95%, no FDA‑approved treatment exists. When treatments are developed, they often come through the FDA’s orphan drug program – a designation intended to encourage the development of therapies for rare conditions. As a result, each new therapy launch can look very different, each patient journey is unique, and operational details carry added importance.
These realities shape what patients and caregivers experience long before treatment is ever considered – and why the journey can be so challenging.
Understanding the Rare Disease Patient and Caregiver Journey
While prevalence statistics help define what makes a disease “rare,” they can’t capture the lived experience behind those numbers. Many rare disease patients and their caregivers experience:
- A long road to diagnosis. It can take five or more years on average for a person to receive a rare disease diagnosis, according to the National Organization for Rare Disease.
- A maze of specialists and referrals. Patients may see multiple providers across different specialties before gaining a better understanding of what they’re facing.
- Travel and access challenges. Families may travel hours to reach providers who have experience managing their specific symptoms or condition.
- Financial stress and coverage anxiety. Patients and caregivers worry about what insurance will cover, what it won’t, and how they will manage out-of-pocket costs.
- Information overload. They spend nights researching, comparing options, interpreting medical terminology, or exploring clinical trials – all while trying to maintain an everyday life.
Families navigate all of this while living with constant uncertainty – managing a condition that most people, including many clinicians, may never encounter firsthand. Caregivers often shoulder much of the load, coordinating appointments, gathering records, advocating for a loved one, and trying to make sense of evolving medical information.
These experiences highlight why providers play such a critical role. When care teams are aligned, the process becomes clearer and families feel more supported, even in moments of uncertainty.
Providers Need Rare Disease Care Partners
Rare diseases appear across nearly every specialty. Even highly experienced clinicians may encounter only a small number of patients with a specific condition in their careers, which means the administrative steps tied to rare disease therapies – prior authorizations, specific documentation requirements, benefit verification, hub enrollment – may feel unfamiliar or time‑consuming.
In these moments, providers benefit from partners who understand the process and can help clarify what’s required, when it’s needed, and how to keep patients moving forward to avoid delays in care.
A specialty pharmacy can help in this role, offering practical guidance that translates complex therapy requirements into clear, manageable next steps for both the practice and the patient.
How Specialty Pharmacy Supports Rare Disease Providers
Providers need steady, streamlined support – not added complexity. As part of the rare disease provider team, specialty pharmacy plays a key role by acting as an extension of the practice and helping manage the steps involved in starting and maintaining therapy. This support includes:
- Setting clear expectations on what information is needed and when.
- Supporting provider office workflow and documentation, including prior authorization support, benefit verification and hub enrollment.
- Keeping practices informed so teams know where a patient is in the treatment process.
- Providing clinical support services that promote adherence, with rare disease-trained nurses and clinicians who help patients understand and manage their therapy, sharing relevant updates with the provider.
When collaboration works this way, providers gain a trusted partner who helps support administrative requirements and keeps care teams aligned so patients experience a smoother, more supportive path during an already stressful time.
The Role of Hub Services in Rare Disease Care
Hub services often play a more central role in rare disease than in other therapeutic areas. Because treatments are so specialized and patient populations are small, biopharma manufacturers frequently rely on hubs – and sometimes require enrollment – to help families navigate coverage, financial support and program requirements.
For families already managing a complex condition, the way hub teams and specialty pharmacy teams coordinate can make a meaningful difference. Effective partnerships focus on:
- Clear roles and responsibilities so families know exactly who to contact and when.
- Coordinated communication to avoid duplicative calls or conflicting updates.
- Streamlined support across benefit verification, financial assistance and patient follow‑up.
When hub and specialty pharmacy teams work together smoothly, the care experience feels more consistent for patients and caregivers – and providers gain confidence knowing that their patients are supported every step of the way.
Partnering with Biopharma to Strengthen Rare Disease Programs
The support required for a rare or orphan disease therapy does not come together by chance. Biopharma companies work closely with specialty pharmacies to design the patient and provider support programs that accompany each therapy – shaping the education, clinical resources and services that appear in practice.
Because rare disease therapies are not one‑size‑fits‑all, these programs must reflect real‑world needs. Collaboration with biopharma often includes:
- Therapy‑specific support models that align patient and caregiver education with the realities of the rare disease journey.
- Nursing support designed for adherence, with clinical touchpoints that reinforce therapy understanding without overwhelming families.
- Provider‑aligned education, recognizing that many clinicians may be unfamiliar with specialty workflows.
- Right‑sized visibility, ensuring programs offer insight into progress without adding administrative burden.
When programs are thoughtfully designed, they make it easier for patients to move forward, help providers prescribe confidently, and help caregivers focus on care rather than complexity.
Turning Hope into a Path Forward
Rare disease is full of moments where families are asked to be resilient: waiting for answers, advocating for care, learning a new vocabulary, managing financial uncertainty, and navigating a condition few people understand.
When treatment becomes possible, it should not introduce a new kind of stress. Patients and caregivers need a care experience that feels connected, clear and supported. Collaboration across the care team can transform what often feels fragmented into coordinated rare disease care – the kind of experience families deserve.
At Biologics by McKesson, we’re honored to stand alongside patients, caregivers and the providers who support them. And we remain committed to building the collaborative relationships that make rare disease care possible.
About the Author
Stephanie Patten is Vice President of Rare Disease and Advanced Therapies at Biologics by McKesson. With more than 15 years of experience spanning specialty pharmacy, patient access, reimbursement and clinical program design, she is dedicated to improving the care experience for patients, caregivers and providers across the rare disease and cell and gene therapy landscape.
Rare Disease Resources
- National Organization for Rare Disorders (NORD)
- NORD: Find a Rare Disease Patient Organization
- National Human Genome Research Institute (NHGRI): Rare Diseases FAQ
- NIH Genetic and Rare Diseases Information Center (GARD)