THE HIDDEN PANDEMIC: RARE DISEASES AND MISDIAGNOSIS

​Although a single rare disease affects fewer than 200,000 Americans, all rare diseases combined affect 10% of the U.S. population. Hence, it is not rare to have a rare disease. Yet, the average rare disease patient will go 16.5 years without a diagnosis from symptom onset, have seen 16.9 specialists, and spent 10.2 years of life with undiagnosed and untreated rare disease (figure 1). ​​​​ ​Since 1/1/2025 to 5/20/2025 alone, 41 unique patients with rare diseases diagnosed by myself have been seen at least once, most of which were newly diagnosed this year, and all of which I diagnosed within the past 12 months. However, the workup in finding the diagnosis goes beyond the date of service. It involves extensive research on your symptoms, days of chart reviewing, utilizing artificial intelligence, ordering genetic testing, and much more than what an insurance plan covers for a new patient encounter.   ​I have been doing this at no extra charge beyond a new patient encounter. I have have been doing this because this is what I love to do. I am also good at it, with a greater than 90% success rate since opening Spears Pain & Rehab on 4/1/2025. However, this has not been a sustainable business model to continue doing through a typical new patient encounter. I have spent months coming up with a resolution and, ultimately, it comes down to you, the patient, making an investment in your diagnosis to potentially save you tens to hundreds of thousands of dollars in unnecessary medical and non-medical expenses in the future. ​​​​​​​​​​​​​

Getting to the underlying cause of your symptoms with a diagnosis, at a reasonable bundled price listed below, shortens the the more than 6-12 year average financial, medical, and psychological costs of going undiagnosed. It saves money for individuals, caregivers, and the healthcare system, while improving health outcomes by: - Providing earlier access to supportive therapies and treatment - Delaying or preventing disease complications and physical disabilities - Reducing or eliminating costly and unnecessary services or procedures - Getting to the bottom of your condition results in:​​​ - A resolution to the never ending workups that have led nowhere - A guided treatment plan that is more likely to work based on your disease - Candidacy for novel therapeutic drugs to treat your condition which are seeing an increase in approvals the past several years at an accelerating rate - At times, justify and get approval for disability for a previously undiscovered disabling diagnosis - Reduce gaslighting from other providers not believing that your symptoms are indeed physical rather than psychological - Guide you on your prognosis for the remainder of your life - Help your children or future children  - Eligibility for “repurposing” currently existing drugs. These are drugs that already exist for other indications that have preliminary research as being beneficial for rare conditions.

​To the best of my knowledge, there is no government nor commercial insurance plan that reimburses the physician to spend enough time, resources, and tools in order to diagnose a rare disease and, in turn, optimize your treatment and outcome. A disturbing result was gathered from from a 14-question survey published in a 2023 Genetics in Medicine Open article [1] which assessed clinician knowledge, experience, and educational needs in rare diseases. The respondents included 978 clinicians across 16 specialties. Two-thirds of the respondents considered rare diseases to be 50 to 500 times rarer than standard US definitions, and 59% said they never or rarely (1× or 2× per year) see patients with rare diseases. Although 87% have been involved in an rare disease diagnosis, only 19% were mostly or very confident in making a diagnosis. In addition, 38% to 44% reported diagnostic barriers such as knowledge of signs/symptoms, time to investigate, guideline availability, test access, and referrals.  ​ At Spears Pain & Rehab, we diagnose rare diseases objectively utilizing the exact diagnostic barriers cited above by other physicians. What’s most perplexing is that the majority of the patients diagnosed had already been evaluated at tertiary care centers such as Mayo Clinic in Rochester, MN. As a small private practice, we learned that the harsh reality of the root of the issue is not solely to blame on tertiary care centers, but the toxically unfavorable landscape created by health insurance. More specifically, the amount of time your doctor is able to spend with you is insufficient to come to a diagnostic conclusion. This is unfortunate given the enormous cost savings and life changing results we have made in peoples lives. Rare disease patients often have to conduct their own research, bring suspected conditions to physicians for consideration, and build their personal care and advocacy networks. As shown in figure 2, healthcare costs not covered by insurance are grossly underutilized in the work and treatment required in the setting  of a rare disease. This includes, but is not limited to: extensive chart review going beyond the date(s) of service you were and will be seen extensive workup and follow up lasting hours per day beyond a feasible standard medical practice business model continuously reading the latest literature on rare diseases related to your presentation deciding which tests to order based off of extensive research and history gathering that goes beyond a standard new patient encounter and subsequent established patient encounters using artificial intelligence combining search terms related to your objective test results and findings that may correlate with your symptoms with a physician determining what is medically relevant vs irrelevant collaborating with your care team for both diagnostic workup and subsequent treatment recommendations. Yet, only 4.4% of individuals afflicted by rare disease utilize self-pay services vs 12.1% of individuals who are not afflicted by rare disease [3].​​​​​

​​​​​​The future of rare disease drug development is entering a new era with personalized medicine, gene therapy, and artificial intelligence [4]. Researchers are increasingly focusing on tailoring treatments to the specific genetic mutations or mechanisms underlying rare diseases, leading to more effective and targeted therapies. Gene therapy, once a distant dream, is now a reality in orphan drug development, with the potential to treat or even cure certain inherited disorders. Artificial intelligence, with its ability to analyze vast datasets, is also playing a crucial role in drug discovery and repurposing currently existing drugs used for other indications for rare diseases, overcoming data limitations and improving prediction accuracy. The rise of genomics and precision medicine means that treatments are increasingly tailored to the individual patient's genetic makeup and the specific molecular mechanisms underlying their rare disease. This approach promises more effective therapies with fewer side effects. Gene therapy, which aims to replace or correct faulty genes, has seen notable progress in recent years. Several gene therapies for rare genetic diseases are already approved or in development, including treatments for conditions like sickle cell disease and spinal muscular atrophy. Experts predict that genetic therapies will become the standard of care for many rare genetic diseases before 2036 and may even lead to cures for many conditions that currently lack one.   Nonetheless, it is so rare to find a clinic specializing in rare disease that I’ve yet to find one outside of a tertiary care center such as Mayo Clinic in Rochester, MN anywhere in the United States. With modern information technology, a doctor who is humble enough to work with you on sticking to the facts and gathering objective data in your journey to a better understanding of yourself and, in turn, countless downstream benefits. As shown in Figure 3, the demographics of rare disease has shifted from pediatrics to adulthood. ​​​​​​

There is currently no medical specialty dedicated to rare disease, nor is there a widely accepted terminology for a rare disease physician specialist. It is our personal belief that a Physical Medicine & Rehabilitation physician, which is a specialist physician who is trained to maximize your functioning in the setting of disability, ranging from mild to severe, is in an optimal position to diagnose a rare disease because of the following factors: - Physical Medicine & Rehabilitation is not limited to any one organ system - Many rare conditions span multiple organ systems. Most specialists, such as neurologists, rheumatologists, geneticists, etc… are limited by the scope of their area of expertise, only seeing half of the entire picture of your illness - Many specialists are limited to ordering workup related to their organ system, whereas a Physical Medicine & Rehab physician can diagnose and treat conditions relating to any organ system - Physical Medicine & Rehabilitation focuses on conditions that cause disability. In contrast, a primary care physician is focused on preventative treatment in otherwise healthy individuals and management of common diseases that a provider sees on a daily basis.   Payment for services provided is a part of the physician-patient relationship with your doctor. Per the financial policy of the practice, patients and guarantors are responsible for making the necessary payments toward the services they receive. With the changing environment in health care, rare diseases have become increasingly misdiagnosed and, in turn, mismanaged. Insurances do not reimburse a physician for multiple days worth of medical detective work reviewing your records, the time it takes to assimilate a quality medical note gathering your history beyond the basics of a non-rare disease, collaborate with multiple specialists regarding your case, and efforts that go well beyond the standard scope of a standard physician encounter. We believe that this is the leading explanation as to why the average rare disease patients goes 16.5 years between their first symptom to time of diagnosis. As the figure 1 shows, there is clearly no one specialist that has mastered the art of diagnosing rare disease. Rare disease diagnosis is a passion of mine. Rather than give into insurance in exchange for a reduced quality of care, I find myself with no other option than to charge a one time rare diagnosis workup fee. As figure 2 shows utilizing healthcare costs not related to insurance is grossly underutilized.