National Organization for Rare Diseases (NORD): Helping Patients Access Safe, Affordable Care and Medication
Now more than ever, rare disease patients need seamless access to care in order to comply with highly specialized treatment and maintain optimal health.
National Organization for Rare Diseases (NORD): Helping Patients Access Safe, Affordable Care and Medication
Now more than ever, rare disease patients need seamless access to care in order to comply with highly specialized treatment and maintain optimal health. This is especially important for those that rely on disease management in the absence of an FDA-approved treatment (90% of rare diseases do not have an FDA approved treatment). For those with an approved treatment, the cost of these drugs and therapies presents barriers to achieving optimal health.
Leading the way in voicing the needs of the rare disease community, the National Organization for Rare Disorders (NORD) stands as an independent advocacy organization representing all patients and families affected by rare diseases in the United States. They drive supportive policies, further education, advance medical research and provide patient and family services for those who need them most.
Together with over 300 disease-specific member organizations, more than 15,000 RareAction Network^®^ advocates across all 50 states, and national and global partners, NORD delivers on its mission to improve the lives of those impacted by rare diseases.
Our editorial team had the pleasure of sitting down with Pamela Gavin, Executive Vice President of NORD, and a leading expert in rare diseases and advocacy. Below are a few highlights from that discussion.
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Understanding Rare Diseases
In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people. Because there may be as many as 7,000 rare diseases, the total number of Americans living with a rare disease is estimated at between 25-30 million. This estimate has been used by the rare disease community for several decades to highlight that, while individual diseases may be rare, the total number of people with a rare disease is large.
People might be surprised to learn that many well-known diseases actually fall into the rare category. For instance, amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is a rare disease. Approximately 30,000 people are affected in the United States, with an estimated 5,000 new cases diagnosed each year.
The Ice Bucket Challenge, an activity involving the pouring of a bucket of ice water over a person's head to promote awareness of ALS and encourage donations, helped make ALS more well known. It led to greater funding for scientific advances, expanded care for those living with ALS and increased investment in disease research from the federal government.
For mostly unknown conditions, NORD has a database that contains reports on thousands of rare disorders. All reports are freely available and provide brief introductions for patients and caregivers on specific rare diseases, including symptoms, causes, treatments, clinical trials and resources, such as patient support groups and voluntary health organizations. One of the greatest challenges rare disease patients and families face is the lack of information related to their condition and treatment, so this database is highly beneficial for all stakeholders.
Specialty Patient Challenges
Much of the U.S. healthcare system is geared towards serving more common conditions. Therefore, having a rare disease means few medical experts exist for that particular disease. These patients also face a dearth of care guidelines and care coordination because little is known about the condition across the healthcare system.
Misdiagnosis and incorrect treatment are frequent in rare diseases. In fact, rare disease patients often must deal with what's known as a "diagnostic odyssey," waiting an average of six years after onset of symptoms for an accurate diagnosis. During this period, patients suffer from loss of quality of life, disease progression, incorrect treatment and complications that are sometimes irreversible. This can lead to high levels of anxiety, frustration and impacted relationships.
Furthermore, unnecessary consultations cause substantial costs for the individual and for healthcare systems, with patients seeing an average of 7.3 physicians before a diagnosis is established.
Specialty Pharmacy for Rare Diseases
Given their extensive lifelong medical needs, rare disease patients often see five times as many specialists as those with common diseases. They also face barriers to access, high copayments and lack of care coordination across various specialists and medications. This is where specialty pharmacy services organizations provide considerable support and guidance for patients and families grappling with the complex U.S. health care system.
Often, rare disease treatments and therapies require special handling, especially biologics. Treatments can be more expensive because the cost per patient is higher. For these reasons, the entire care continuum -- including healthcare professionals, specialty pharmacists, solutions providers and other stakeholders -- play an important role in the healthcare services support network for patients, many of whom may have low health literacy and limited access. In fact, rare disease challenges are amplified among marginalized communities.
Specialty pharmacy solutions providers enable patients to obtain streamlined access to therapy and enhance clinical outcomes via tech-based patient engagement, such as refill reminder calls and text messages, therapy interventions and side effects management.
Addressing the High Cost of Gene Therapy
The introduction of gene therapy is significant for the rare disease community, especially because 72% of rare diseases are genetic and 70% of these diseases start in childhood. Gene therapy brings a great deal of hope for many of these patients, which is why NORD supports every effort to bring these therapies to market.
NORD focuses on ensuring access to safe, affordable care and treatment. In particular, NORD looks for opportunities to support programs that overcome access challenges and examines models to accelerate drug development in ways that are more efficient and effective.
Currently, NORD is working with the FDA in a collaborative effort to address the acceleration of drug development through the lens of regulatory approvals. In addition, NORD and Critical Path Institute have developed the Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP) to aggregate data from disparate sources to develop a clearer picture and break down the silos where data is captured. This will enable information to be identified and made available to researchers and those who are looking to develop therapies to better understand the natural progression of diseases, grow a collective knowledge base and accelerate the opportunity to gather data necessary to optimize clinical trials.
NORD Advocacy
NORD has sought to impact policies at the federal and state level to address rare disease issues due to the COVID-19 pandemic, including support for the expansion of telemedicine and paid family and medical leave.
With a focus on promoting the value of telemedicine, they have engaged with lawmakers and key players on Capitol Hill to develop priorities around the current reconciliation legislation. This requires funding for home- and community-based services. Also, it has been necessary to address the Medicaid gap, including the 12 states that failed to expand Medicaid eligibility, and establish out-of-pocket prescription cost caps for Medicare beneficiaries.
Working with volunteers in the states, NORD now has 15,000+ advocates. This approach was instrumental for passage of the Orphan Drug Act in 1983, a grassroot legislative movement that facilitated development of orphan drugs.
Volunteers can join NORD's RareAction Network^®^, which serves to connect and empower a unified network of individuals and organizations with tools, training and resources to become effective advocates for rare diseases through national and state-based initiatives across the United States.