Uncovering the Realities of Rare Disorders from the Patient’s Perspective
The world of rare diseases and the impact it has on countless lives is often underestimated. Rare diseases, though affecting fewer individuals within the general population, cover a broad spectrum of conditions with significant implications. Here, we explore the magnitude of these disorders, insights into diagnosing them, and the critical resources available for patients and their families.
Understanding the Magnitude of Rare Diseases
Rare diseases are defined as any disease, disorder, condition, or diagnosis affecting about 30 million people in the United States according to the U.S. Department of Health & Human Services. Contrary to popular belief, rare doesn’t equate to negligible. In fact, these rare diagnoses collectively affect a substantial portion of the population. Approximately one in ten Americans—loved ones, friends, colleagues, or neighbors—live with a rare disease. Furthermore, there are over 10,000 recognized rare diagnoses, with about 80% being genetic in nature. Sadly, fewer than 5% of these conditions have FDA-approved treatments available. When considering these numbers, it becomes clear that “rare” isn’t as rare as it may seem.
Living with a rare disease isn’t just a personal battle; it impacts entire families. Whether it’s ALS, sickle cell disease, cystic fibrosis, or PKU, these conditions span across all demographics—men, women, the young, and the elderly. When an individual receives a diagnosis, the ripple effect touches everyone around them, often leaving families feeling isolated and overwhelmed.
Navigating Diagnosis Resources
For healthcare providers, diagnosing rare diseases can be particularly challenging. A long-standing mantra in healthcare is, “If you hear hoof beats, think horses, not zebras.” This phrase suggests that common conditions should be considered before rare ones when diagnosing a patient. However, this can lead to missed or delayed diagnoses of rare conditions. In the world of rare diseases, if you don’t suspect it, you can’t detect it.
Patients often experience what is known as the “diagnostic odyssey,” where it can take years to receive an accurate diagnosis. This journey underscores the need for healthcare providers to understand and remain vigilant about the possibility of rare diseases. Every individual with a rare disease deserves the best possible care and support.
The National Organization for Rare Disorders (NORD) has been a cornerstone of support for those living with rare diseases. NORD’s rare disease Centers of Excellence program is the first national network of US hospitals and medical institutions dedicated to diagnosing, treating, and researching all rare diseases. Since its launch in November 2021, the program has expanded to include over 40 recognized centers. These centers provide essential support and resources for patients, physicians, clinicians, and healthcare providers.
At KJT, we partner with pharmaceutical and biotechnology companies to help them develop products tailored for rare disorders by sharing experiences and insights that drive innovation and patient-centric solutions while bringing together patient communities.
The Patients Perspective
Receiving a rare diagnosis can be an isolating experience. However, finding a community of individuals with similar experiences can help patients feel supported and less alone. NORD’s belief is that people living with a rare disease have a fundamental right to their best health and well-being. They advocate for solutions that address the complex needs of the rare disease community, providing resources and information tailored to diverse individuals.
NORD’s website, offers a wealth of resources for patients, caregivers, and healthcare professionals. From webinars and advocacy initiatives to financial resources, the site is a robust collection designed to assist those navigating a rare disease.
Pharmaceutical and biotech manufacturers play a crucial role in facilitating access to care and treatment for rare diseases. From drug development and clinical trials to insurance coverage and caregiver support, addressing the myriad of access challenges requires collaboration with patient advocacy groups.
Looking Ahead
With increasing investments in gene therapies and the expansion of large pharmaceutical companies into the rare disease space, there is a bright future ahead. Regulatory bodies are also paying greater attention to patient voices, allowing for flexible drug trial designs and easier access to trials.
At KJT we advocate for continued support bringing the patient perspective to life in order to drive innovation and close gaps in care. Click here to watch our webinar, where we look ahead and discuss how to create a positive impact in this space.
