Rare diseases, which affect over 30 million Americans, are one of the most vulnerable aspects of the healthcare system as they present an array of unique challenges in addition to their complexity and limited knowledge surrounding their diagnosis and pathophysiology. Regardless of the disease, challenges arise at the start of the patient’s journey and often remain throughout a lifetime. These can include delayed diagnosis, financial toxicity, and limited access to specialty drugs or care. These hardships, on top of patients trying to understand the disease with limited resources, frequently lead to additional stress and frustration that negatively impact overall health and mental well-being.

How can specialty pharmacies specifically improve treatment options for patients with rare diseases?

Given that most rare diseases are incurable, proper treatment, which can be extensive, is the only way to help slow disease progression and manage symptoms. These diseases require specialty treatment typically unavailable at local retail pharmacies or small health systems, making it extremely difficult for many patients to get the care they need. Knowing this, the industry and its leaders must shift away from the current systems and ensure that patients with rare diseases have easy access to the necessary treatment and resources.

Hurdles throughout the cystic fibrosis patient journey

Cystic fibrosis (CF) presents in nearly 40,000 children and adults throughout the United States, placing it among the most prevalent of the more than 7,000 unique rare diseases. A genetic and progressive disease, it impacts the body's mucus production, causing blockages in organs including the lungs and digestive system. It can become life-threatening and lead to other complications, infections, or diseases such as malnutrition, liver disease, bone disease and chronic rhinosinusitis

With no cure for CF, treatment aims to slow disease progression and manage symptoms. This includes specialty medications, breathing techniques, airway-clearing devices, and a strict diet. More invasive treatment methods include feeding tubes, bowel surgery, and lung or liver transplants. Given how extensive care becomes, treatment, testing, and all associated medical appointments often cause CF patients to miss work, school, or important life events. In addition to absenteeism, CF can also lead to depression and body dysmorphia.

Like other rare diseases, medications to treat CF are more limited than more mainstream conditions. Retail pharmacies may not carry the few available therapies and associated costs of the drugs, hospital bills, and testing may prove insurmountable for patients. A study¹ published in the Journal of Cystic Fibrosis examined the financial burden for CF patients and found that of the more than 1,800 patients surveyed, 64% faced some financial burden. One-third of respondents also stated they had at least one unmet medical need due to the cost of care associated with the disease such as prescription needs, delayed or shortened hospitalization, or skipping medical appointments.

This litany of challenges has an outsized impact on a patient’s care journey and can lead to rapid disease progression or even premature death. To avoid a worst-case scenario and mitigate some of the burden, care must become all-encompassing and accessible through every aspect of every CF patient’s journey.

Specialty pharmacies can improve patient outcomes

Specialty pharmacy programs have proven results in improving outcomes for patients with rare diseases. Specialty pharmacies are unlike traditional retail pharmacies, both in the locations they operate in and in the services they provide. Many of them are integrated in hospitals and health systems to allow for closer collaboration between pharmacists and physicians, shortened time to therapy access, and convenient medication pickup and delivery options. They can access specialty drugs that are often unavailable at retail pharmacies and can provide unique support and services to meet patients’ complex needs. This includes assisting with and expediting the prior authorization process, exploring financial assistance options, and providing complex medication management by specialty trained pharmacists.

Specialty pharmacists are integral in the CF patient’s care team, providing comprehensive medication management, assessing barriers to adherence, optimizing medication administration, and providing counseling and guidance to patients on side effect mitigation, missed dose management, and supportive care. Pharmacy liaisons, often embedded in the health clinic, play a key role in shortening time to therapy by assisting with the prior authorization process and exploring available financial assistance options. In many cases, pharmacy liaisons serve as a single point of contact for the patient’s pharmacy needs, avoiding the complex web of telephone transfers that often characterizes traditional pharmacies. A recent report² from Shields Health Solutions found CF patients in its network of integrated specialty pharmacy health systems reported 93% treatment efficacy. Additionally, 93% reported no missed days of planned activity, school, or work, and 89% received and took their medications on time, compared to the 80% benchmark. Furthermore, Phoenix Children’s Hospital, which utilizes a specialty pharmacy program, reported³ a 30% increase in medication adherence among CF patients and a reduced disease burden compared to other markets.

Specialty pharmacies are a prime example of how all patients, regardless of their disease, should have easy access to the medications and support they need to thrive. With a specialty pharmacy program in place, healthcare leaders who oversee patient populations with rare diseases can ease the burden of complex and progressive diseases, such as CF, through faster time to therapy, high medication adherence, and low out-of-pocket costs. This collaborative and all-encompassing approach has the potential to create a brighter future for patients with rare diseases.

Kerry Mello-Parker, PharmD, is director of rare diseases and REMS programs at Shields Health Solutions.

Sources

1. Cost burden among the CF population in the United States: A focus on debt, food insecurity, housing and health services. Journal of Cystic Fibrosis. May 2023. https://www.cysticfibrosisjournal.com/article/S1569-1993(23)00003-6/fulltext
2. Shield Clinical Outcomes Report 2024. Shields Health Solutions. https://view.ceros.com/shields-health-solutions/outcomes-2024/p/1
3. Shields Health Solutions | Phoenix Children's. Shields Health Solutions. https://www.youtube.com/watch?v=dStr3N9aaUU