When Gabriel was born five years ago to loving parents, he was perfectly normal and showed no signs of any health problems. But the onset of developmental delays began at six months and continued to worsen. While the baby boy was extremely happy and always smiling, he wanted to be carried all the time and couldn’t crawl. He had poor physical coordination and delayed speech.
The family lives in rural Vermont and the local pediatrician simply recommended some physical therapy and stretching — a wait and see prescription. By the time the child turned three, the parents were quite alarmed by the boy’s condition.
Several local doctors and physical therapists were consulted but none could diagnose the condition. Finally, in desperation, the family traveled to Boston for a consultation and finally got a definitive diagnosis of Angelman Syndrome, a rare neuro-genetic disorder that occurs in one in 15,000 live births or 500,000 people worldwide. It is caused by a loss of function of the UBE3A gene in the 15th chromosome derived from the mother. Angelman syndrome shares symptoms and characteristics with other disorders including autism, cerebral palsy and Prader-Willi syndrome. Due to the common characteristics, misdiagnosis is typical.
By the time he was diagnosed, Gabriel was nearly five years old. Since then, travel to specialists remains problematic for the low-income family for many reasons and local specialists in this rare disease are non-existent. Sadly, this story represents just one scenario that is occurring across the United States in relation to the 7,000 rare diseases that affect more than 25 million Americans.
In recognition of April 26-30 as Patient Experience Week (PX Week), an annual event to celebrate the people who impact the patient experience every day, it’s important to acknowledge the unique needs of people with rare diseases, as well as strategies for optimizing diagnosis, care and treatment.
As Gabriel’s story demonstrates, rare diseases are difficult to diagnose, with many having non-specific or unusual symptoms that often progress slowly. What’s more, these patients face a number of challenges, including difficulty finding a doctor who can diagnose the disease and is knowledgeable about treatment, dealing with frequent misdiagnosis and medications that fail to work, a sense of being marginalized by the system or isolated by their disease state, and the staggering costs of treatment.
Fortunately, a patient-first approach to specialty drug management for these patients helps to maximize therapeutic opportunities. It also helps wholesale distributors, specialty pharmacies and Hub service providers connect seamlessly, instead of operating independently.
For many people living with an undiagnosed medical condition, the journey to an official diagnosis can be a long and painful road. Approximately, 28% of rare disease patients said it took seven or more years to get an accurate diagnosis, and 38% said they received a misdiagnosis during the diagnostic journey. Despite scientific advancements and increased information-sharing, particularly through online resources in recent years, the challenges to timely and accurate diagnosis persist.
According to the 2019 survey, 50% of patients and caregivers attributed diagnostic delays to a lack of disease awareness, and 42% believed that delays were caused by limited medical specialization. Too often, physicians fail to make the connection between symptoms, particularly across different organ systems. Other issues adding complexity to the diagnosis pathway include protracted wait time to see specialists, frequent testing and symptoms that mimic those of other, more common conditions.
These challenges indicate that greater awareness of rare diseases among health care professionals and more coordinated care may improve the rate of diagnosing rare diseases. An accurate diagnosis is the first step in managing a rare disease appropriately and identifying specific resources and interventions for the best possible clinical outcome for patients.
Overcoming these challenges is critical because, as time goes on without answers, illnesses may progress, putting patients in a vulnerable position with their condition, with more complexity and greater severity of disease. Delayed diagnosis also takes a mental and emotional toll on patients and caregivers.
While genetic tests can be critical to the diagnosis of many rare genetic conditions, significant variability in clinical evaluations occurs. Given that 80% of rare diseases are genetic in origin, there are opportunities for further progress. As increased opportunities to utilize diagnostic genetic testing emerge, potential barriers must be addressed to ensure equitable access for patients, including: filling knowledge gaps to empower patients and health care professionals with information regarding clear diagnostic criteria and when and what type of genetic testing is appropriate; addressing insurance barriers and long wait times for appointments; and overcoming shortages of trained geneticists.
Having a patient-first mindset helps ease this process and encourages patients to keep pushing forward. Well managed care coordination can hasten the diagnostic process and deliver the “human touch” that has gone missing in today’s technological age.
Barriers to Care and Treatment
Beyond diagnostics, it’s important consider the array of barriers to care and treatment for patients with rare disease:
Geographic — For many rare diseases, only a handful of specialists exist with expertise in particular rare conditions. As a result, patients often travel long distances to access their treating providers. A recent survey shows that 80% of respondents were being treated by at least one specialist and 39% needed to travel 60+ miles. What’s more some rare disease patients have to permanently relocate to access medical care related to their rare disease. In 2019, 17% of individuals relocated or were considering it.
Insurance Coverage — Although access to health insurance increased under the Affordable Care Act (ACA), insurance alone has not translated into increased access to health care for rare disease patients. In 2019, only 29% of study respondents had been granted access to treatments that were not approved by FDA for their medical condition.
This practice, known as off-label prescribing, is legal and common in the United States. What’s more, people with rare diseases often rely on off-label prescriptions because they have no other treatment options available to them, given that only a few hundred of the 7,000 known rare diseases currently have an FDA-approved treatment.
In cases where new treatments for rare diseases have been developed, patients have not always been able to access them. According to the 2019 survey, 61% of patients had been denied or faced delays accessing treatments that required pre-approval from an insurance company, and 18% had been denied referral to a specialist.
Furthermore, 93% of plans featured four or more tiers for prescription drugs. Cost-sharing increases with each tier, so that each additional tier represents greater cost to the patient. Given that the majority of rare disease treatments in existence are Tier 4 drugs, patients’ expenses can force people to go without their medication or use alternative treatments that are not as safe and effective.
Patient-First Stakeholder Benefits
Patients who are satisfied with their care journey typically experience a higher quality of life, which in turn leads to more cost-effective care and improved clinical outcomes. Key benefits for other stakeholders include:
Family and caregivers: Because family and caregivers know a patient-first model is there to support them, they become more engaged and take ownership, which leads to a stronger partnership and better patient care.
Physicians: Doctors have more time to focus on patients because a patient-first model manages the business behind healthcare, which includes navigating insurance paperwork, helping patients understand more about the product and what information to provide to their doctors, and reminding patients of key touchpoints, such as lab tests and doctor appointments. This level of support is important for physician practices that may not have a lot of experience with a particular disorder in terms of understanding the therapy and navigating the payer landscape.
Payers: Because a patient-first model supports better compliance, this can lead to fewer co-morbidities, hospital/ER visits and admittances. Ultimately, this means overall lower cost of care.
Manufacturers: Serving as a single source partner, a patient-first specialty drug management partner benefits drug manufacturers by bringing continuity of care that is critically missing from the legacy care model. The net result is that patients have a better experience — a critical component of a product’s value.
In the rare disease space, most manufacturers have worked with multiple specialty pharmacy partners and an internal or external product Hub, but this unique patient-first approach offers key advantages:
- Single source — When a manufacturer uses several specialty pharmacies and a patient in clinical trials switches to the commercial drug, the payer will almost always have a distribution preference inside its network, which can force patients to change pharmacies — and potentially disrupt care. The single pharmacy, patient-focused model finds the right drug for the patient. When there’s only one place you can get this drug, it will be covered by insurance.
- Competitive edge — Patients with rare and orphan disorders and their physicians must overcome massive hurdles in achieving any level of consistent care. When a new therapy is available on the market, switching to a new drug can lead to physical, emotional, clinical and economic challenges. These drugs can cost hundreds of thousands of dollars per patient per year, and insurance companies pay close attention to the value received for every dollar spent, prompting doctors and patients to think twice before considering a new therapy.
- Pharmacy pricing model — A core difference between the legacy and patient-first model is how pharmacies are compensated. With the legacy care model, pharmacies earn a margin on the products sold as they strive to keep millions of patients compliant with maintenance medications. When the focus is on the product instead of the patient, the pharmacy’s incentives can get misaligned. They’re focused more on monthly profits, which can lead them to focus on how much time Hub service employees spend on the phone. These incentives prevent pharmacies from being truly patient-focused and able to deliver the best possible care.
The longer a patient is compliant with treatment, the less the manufacturer needs to invest in acquiring new patients.
Finding a Patient-First Specialty Drug Management Partner
The best patient-first specialty drug management partner will offer streamlined prior authorizations and appeals, data and analytics, enhanced patient care coordination and patient journey mapping.
Stakeholders should seek a patient-first specialty pharmacy management partner that offers:
- Timely use of telehealth
- Tailored IT, tech and data solutions based upon client needs to improve patient engagement — from clinical trials to commercialization and compliance
- Comprehensive suite of Specialty Pharmacy (SP) services for specialty Rx manufacturers, providers and payers, including pre-commercialization, outsourced market access, wholesale, 3PL, limited distribution drug (LDD) fulfillment, and custom Patient Support and Hub services
- Greater understanding of the role of data in personalized medicine
- An array of services offered as a whole or a la carte to meet each patient’s particular needs
It’s also critical to find a partner that offers innovative financial solutions, including custom copay assistance programs. This eliminates barriers to accessing high-cost therapies and ensures that patients receive the specialty medications they need, when they need them most, regardless of financial status.
The best patient-first care models include targeted programs, services and specialized expertise that transcend the limitations of traditional, legacy care organizations that often fail to fully address the needs of patients with rare disease.
Patient-first team members, including care coordinators, technicians, nurse managers and pharmacists, are able to be there for the patient whenever they need them, which is particularly important when altering or starting a new medication. These professionals draw on their expertise to manage the challenges around insurance and shipping, compliance, education and care coordination.
During Patient Experience Week, it’s important for more people to understand the challenges that rare disease patients face and how a patient-first strategy to specialty drug management offers a more compassionate way to provide better services and support.
Editor’s Note: Michelle Hefley , Co-Founder & Chief Operational Officer, Optime Care
In addition to her role as a managing partner and senior advisor of Optime Care, Michelle is responsible for directing business activities related to the company’s start-up growth and the successful implementation of the business plan.
Michelle also served as President and COO of Centric Health Resources, Inc., headquartered in Chesterfield, Missouri. As a co-founder, Michelle built Centric from a start-up specialty pharmacy into a nationwide service provider for “ultra-orphan” drug therapies to treat chronic disorders like Alpha-1, CTX, MS, Cushing’s Syndrome, Thalassemia and PID. She also co-developed and implemented the company’s annual strategic plan. Her departmental direct reports included the vice presidents of pharmacy, nursing, reimbursement and IT. During her tenure (2004-2013), the company grew to over 130 employees and nine commercial partners. Centric was acquired by the Dohmen Company in August 2011.
Michelle served as a senior director with Express Scripts Specialty PB in St Louis, Missouri, from 1998 until 2004. She was responsible for the specialty pharmacy’s operations, which included managing relationships with pharmaceutical, biotech and managed care organizations. She also performed market research to evaluate pipeline opportunities, established market objectives, managed sales revenue and margin projections as part of her annual budget planning for the division.