Living with a rare disease is often described as a journey fraught with challenges, uncertainties, and a quest for understanding. That is a fairly accurate description. After all, the complexities of rare diseases extend far beyond their scarcity, negatively impacting individuals physically, emotionally, and financially. Understand that if you, or someone you love, happens to be dealing with a rare disease, you are not alone, and you do not have to suffer in silence. Moreover, resources are available, but you will likely have to put in some work to discover them. Hopefully, this article will help you expedite that process.

Defining the Rare Disease Journey

Understanding what constitutes a rare disease is crucial because it helps individuals understand the complexities of finding the “correct” kind of help. This is to say that not all help is created equal. The Orphan Drug Act, enacted in 1983, defines rare diseases as those affecting fewer than 200,000 people in the United States. Hence, as one might imagine, resources for rare conditions are typically limited. This rarity also contributes to individuals’ challenges when seeking a diagnosis and effective treatment. This is mainly due to the lack of general understanding in the mainstream medical community, along with a lack of funding for testing and treatment options.

Understanding and identifying diseases can be complex due to the inherent variability in causes and symptoms. Causes can range from infectious pathogens, genetic factors, or even environmental or immunological factors. Not every physician is trained in every nuance. Similarly, the manifestation of symptoms often varies from person to person, with some individuals experiencing ambiguity while others exhibit more straightforward indications. This diversity in how different conditions affect individuals underscores the intricate nature of disease identification and the importance of symptomology and highlights the underpinning of ignorance regarding less-researched conditions. Consequently, the inherent variability in symptom presentation adds a layer of complexity to the diagnostic process, making it challenging to pinpoint and categorize certain diseases with certainty. This is especially true when physicians have not yet been exposed to the rare condition being evaluated.

Of course, a rare disease is not necessarily life-threatening. While some definitely are, some rare diseases are merely chronic conditions that significantly and negatively impact the quality of life. These conditions often present ongoing challenges, affecting various aspects of daily living, including physical health, emotional well-being, and social interactions. Despite not posing an immediate threat to life, these rare chronic diseases demand continuous management, resilience, and adaptation, shaping the experiences of individuals and their families in profound ways. In a somewhat paradoxical twist, these non-life-threatening conditions can take a backseat to more pressing conditions, which typically exacerbates the mental health decline of the individual suffering from the condition. Moreover, many physicians are not trained in chronic disease and focus more on acute illness.

Some Unique Problems of Rare Diseases

Having a rare disease presents a myriad of problems. The diagnostic journey is often unnecessarily prolonged, lasting 6 to 8 years on average. The National Organization for Rare Diseases reports that 38 percent of individuals suffering from a rare condition encountered incorrect diagnoses during their quest. Of course, that’s just a “best guess.” In truth, many with a rare or chronic condition are uncounted and simply suffer in silence due to ignorance experienced on the clinical level, having received no diagnosis at all because initial tests were inconclusive or simply not taken.

In many instances, an inaccurate diagnosis or the reluctance to diagnose stems from a misguided perspective that attributes the condition to psychiatric, psychosomatic, or somatization disorders. The physician may erroneously conclude that the ailment exists solely within the patient’s mind or dismiss the symptoms as having no discernible medical origin simply because an immediate cause wasn’t readily identified. In my experience, this problem often originates from a fundamental misunderstanding of how diseases manifest differently in chronic versus acute scenarios or what happens in the body when a disease transitions from an acute to a chronic stage. Additionally, there seems to be a lack of comprehension regarding the body’s self-protective mechanisms in chronic stages or how symptoms might manifest when left to fester. Either way, these misconceptions exacerbate the patient’s stress and feelings of alienation, as they begin to perceive themselves as teetering on the edge of “craziness” despite the very real and tangible nature of their ailment.

Two groups typically emerge from this journey – the “not yet diagnosed” and those with “syndromes without a name” (SWANs), both facing the very real possibility of never receiving a correct diagnosis if the patient does not proactively participate in the physician search. Nonetheless, this prolonged diagnostic journey and the prevalence of incorrect diagnoses create significant challenges for individuals with rare diseases. Of course, the problems only begin with the disease itself. The impact typically extends far beyond the physical manifestations of the conditions, affecting various aspects of their lives.

Firstly, the emotional toll on those awaiting a diagnosis or living with a “syndrome without a name” can be profound. The uncertainty and lack of clarity about one’s health can lead to anxiety, frustration, and a sense of isolation. The temptation to just “live with it” elevates significantly with every failure. Additionally, the emotional strain often extends to family members and caregivers who share in the uncertainty and may struggle to provide adequate support without a clear understanding of the condition.

Furthermore, the lack of a correct diagnosis may result in inappropriate or delayed treatments. Individuals may undergo unnecessary procedures, surgeries, medications, or other interventions that do not address the root cause of their symptoms. This not only exposes them to potential unnecessary risks but also hinders their chances of managing or improving their condition effectively. A worst-case scenario is that a patient’s misguided and desperate efforts make the condition worse.

The social impact is another facet of the challenge. Without a recognized diagnosis, individuals may struggle to access support groups, resources, or targeted therapies tailored to their specific condition. The feeling of being “not yet diagnosed” or having a “syndrome without a name” can contribute to a sense of alienation from the broader healthcare community, exacerbating the already-existing isolation. In turn, and due specifically to the unknown factor, the patient may further isolate themselves in an effort to avoid “infecting” others with their unknown condition.

Of course, the financial burden of a prolonged diagnostic journey should not be overlooked. The costs associated with numerous medical appointments, tests, endless supplement experimentations, and potential treatments can accumulate, placing a strain on individuals and their families. This financial burden is only exacerbated by the possible loss of income due to the inability to work or fulfill daily responsibilities while grappling with health uncertainties. To put this potential into perspective, we must understand that the CDC suggests that six out of every ten adults in the United States currently grapples with at least one chronic disease.

Finally, the lack of trust in the health community needs to be addressed. Those who proactively seek diagnosis and treatment, only to be told that they are crazy and that they are on their own, lose faith in the health system. This is especially true when potentially effective treatments are known but seem just out of reach for the patient. Nonetheless, this erosion of trust can have far-reaching consequences, affecting the individual’s willingness to engage with healthcare professionals and potentially dissuading others in similar situations from seeking the medical attention they desperately need. Of course, this can result in an unnecessary reliance and trust in pseudo-science and potentially dangerous or unproven alternative remedies.

The unjustifiably arrogant physician is often at the center of the problem. Unfortunately, in a clear demonstration of the Dunning-Kruger Effect, many patients encounter dismissive attitudes from healthcare providers who are unwilling to admit that they lack the necessary understanding of the conditions being explored or who simply refuse to listen to the details that patients wish to provide. Patients who experience dismissive attitudes or a lack of support from healthcare providers, especially those patients with the misconception that physicians are supposed to be all-knowing, develop an even more profound sense of disillusionment and may give up their efforts prematurely. Moreover, the resulting skepticism may lead individuals to delay or altogether forgo seeking medical advice, potentially exacerbating their condition and contributing to a broader issue of healthcare disparities. This avoidance becomes highly problematic as the condition advances or new conditions arise.

The Nonsensical Journey of Rare Disease Diagnosis

Clearly, the journey toward a rare disease diagnosis is intricate and emotionally taxing. However, sometimes, it’s just silly. In some cases, access to potential sources of appropriate help requires a diagnosis that the patient has yet to receive. This is a paradoxical problem as the patient cannot receive the diagnosis without a knowledgeable practitioner who is willing to examine the condition first. What is a patient to do besides throw their hands up and take matters into their own hands?

To clarify, the way that the medical community is currently set up is ridiculous. It is alarming to discover how many patients seek help from research universities or medical researchers only to find that the bureaucratic hurdles and administrative barriers within these institutions have created formidable obstacles that hinder their ability to connect with the experts who could potentially understand their conditions. The siloed nature of medical research and the unwarranted disciplinary bias of healthcare only exacerbate this issue, hindering the interdisciplinary collaboration necessary for comprehensive and timely diagnoses. Hence, the lack of accessible channels for direct communication between patients and researchers further isolates those searching for answers while also alienating experts with options to explore.

As a result, patients may feel sidelined, unheard, and disheartened by a system that should ideally be a beacon of hope. Moreover, because of this unnecessary arrangement, the researchers and medical professionals miss critical learning opportunities and collaborations with willing and eager research participants. Ultimately, this self-inflicted wound hinders the advancement of medical knowledge and prolongs suffering in those afflicted with such conditions. It should be no wonder that progress in medicine is glacially slow and cumbersome.

In this current system, since patients cannot locate an appropriate physician, they are left to assume the role of their own physicians. This is particularly problematic for healthcare professionals who may find themselves frustrated when patients, out of desperation, take matters into their own hands and explore potentially hazardous remedies without proper oversight. However, it is crucial for physicians to recognize that this desperation is a direct consequence of the unnecessary obstacles set by the medical community. What alternatives did the patients have in such a system?

The point is that the existing process is far from optimal, particularly given that the medical community has needlessly erected barriers to the advancement of their own understanding. Worse is that this approach excludes physicians and researchers from valuable insights when patients chance upon effective solutions. There is an opportunity for a more effective and collaborative approach that benefits both patients and healthcare professionals, but it is going to require a different approach to the “care of health.“

Becoming a Rare Disease Warrior

Patients need to recognize that a medical degree does not confer omniscience upon a healthcare professional. There is a very good reason why “second opinions” exist. That is because the first was an opinion as well. While it might be an educated opinion, as evidenced by the alarming number of people with chronic and rare diseases, a physician cannot learn everything about health and disease during their studies. Hence, they will not recognize every nuance presented to them.

Unfortunately, despite their ignorance, some physicians may develop an ego or bias that limits their capacity to consider perspectives beyond their preconceived notions or limited understanding. Moreover, bias and ego may limit the potential for interdisciplinary collaborations. This self-inflicted limitation often results in terrible advice for the patient, which usually results in a less-than-ideal outcome. In other words, patients seeking to become a “rare disease warrior” must understand that, like anyone else, healthcare professionals are fallible and subject to the influence of personal biases. Hence, rare disease warriors must be willing to walk away from ignorance and find a different physician who is willing to listen and help. Knowledgeable physicians are out there; you just have to find them. Spend your time and money wisely.

Remember that when seeking a rare disease diagnosis, knowledge is power. However, power is transferred; it’s not created. Hence, you need to put in your research hours and transfer as much power to yourself as possible while resisting the urge the self-diagnose or treat. While it may result in frustration when faced with a physician who knows less than you about your condition, remember that you are your own best advocate. However, that advocacy must be rooted in solid knowledge so that you can better navigate this complex landscape. Spend plenty of time in the journals and be highly skeptical of all non-medical websites trying to sell you something or attempting to diagnose your condition without proper testing.

A Step-by-Step Guide to Finding the Help You Need

Regardless of whether you are just getting into the rare disease diagnosis fight or you have been at it for years, know that a structured approach is essential. Rare Disease Warriors need to become “health detectives” or epidemiologists. Collect the evidence. Look for patterns, causes, and effects of your condition—document symptoms, even those that may seem unrelated. Become as knowledgeable as possible regarding your condition.

Documentation is absolutely critical. You will want to make a “living document” that constantly changes based on new information and understandings. Update it regularly with notes on symptom advancements, supplements, or anything else that might be explored. This document will serve as both an opportunity for you to order your thoughts and also as a litmus test regarding whether or not you have found the right kind of help. This is to say that the “wrong help” simply will not examine your document. If they won’t take the time, you shouldn’t waste yours.

Write a narrative about your experience. List the events that led to the acquisition of the disease and what exactly occurred leading up to your realization. No detail is insignificant. You can refine it after you write it. You might also include various exposures to toxins that you may have come in contact with at any point in your life. This might include infested river water, contaminated work environment, etc. Think hard about this part.

In your living document, compile lists of doctors you’ve seen (including dates), potential triggers, drugs tried (including dates), treatments and procedures tried (including dates), any tests you’ve taken along with the results (including dates), etc. This information will help point physicians in the right direction, ensure that various steps are not unnecessarily revisited, and provide physicians with points of contact regarding previous efforts.

Ultimately, you want to find a healthcare professional experienced in your rare disease. This seems simple enough, but if it were simple at all, this article would not need to be written. Understand that some physicians know absolutely nothing about rare conditions, while some specialize in conditions specifically related to yours. You are initially unlikely to find the exact help you need, but you can start by getting close. After you have compiled your list of symptoms and potential causes, use artificial intelligence to narrow down the scope. Input the information and ask, “What type of physician should I seek for this?” Just know that this journey is going to require several conversations and likely several referrals.

Fish in the right ponds! While your general practitioner or initial specialist may be an ally, he or she is likely not going to be your final answer. You need to begin looking for the right physicians and researchers who are interested in exploration. It is a sad truth that many physicians are not going to care about your situation or are simply not qualified to help. Thankfully, the help you seek is closer than you think. This may require some travel on your part, but it will be worth it.

The good news is that the distance is closing. Many clinics around the country are beginning to board the “rare disease” train. For example, the Mayo Clinic recently joined the Rare Disease Centers of Excellence network, a collaboration led by the National Organization for Rare Disorders (NORD) that includes multiple medical centers across the U.S. The primary objectives of this network are to enhance collaboration among leading medical institutions, share expertise, and advance research and treatment options for rare diseases. You can start there! Of course, you might also consider leveraging resources from government agencies like the Genetic and Rare Diseases Information Center (GARD) through the National Institutes of Health and the FDA.

Joining patient organizations specific to your rare disease can provide valuable information and a supportive community. A great resource here might be RareDisease.net. Nonprofit organizations like the Rare Disease Foundation and EveryLife Foundation provide invaluable support as well. Joining such groups may also help expedite the discovery of a physician or researcher knowledgeable in your condition. While sharing your suffering with strangers can be difficult, these support groups can be a game-changer!

If you suspect a stealth infection but have not been able to get your physician to help you, then consider DNA and genomic sequencing technologies to analyze potentially infected tissue or fluids. Here, the focus is on identifying stealth pathogens—microorganisms causing diseases that escape the detection of standard clinical tests. Independent labs, such as MicroGenDx, can be invaluable resources to help put you and your physician on the right path to discovery.

You might also consider genetic counseling and testing to identify potential genetic factors. While genetic testing is a subset of DNA testing, it’s crucial to understand this differentiation. This form of genetic testing examines an individual’s genes to detect alterations, mutations, or variations in the DNA sequence.

New ways to identify and treat these diseases are being discovered every day! Dedicate time each week to explore what has been discovered and what is on the horizon. Whether you are just getting started or still suffering after many years, know that the landscape continually changes. There is hope. Don’t give up. You just need to find the right kind of help. That means that you need to stand up and become an active participant in your care. Become a “Rare Disease Warrior” and get into the fight!

Additional Resources

• FDNA Health – A digital health and AI (artificial intelligence) company helping undiagnosed patients and their families.
• Rare Diseases: Clinical Research Network – a program designed to advance medical research on rare diseases by providing support for clinical studies and facilitating collaboration, study enrollment and data sharing.
• Rare Disease Day – Raising awareness and generating change for the 300 million people worldwide living with a rare disease, their families, and carers.

Did I miss a great resource? Be sure to let me know!

Note to Physicians: Encouraging an open dialogue between patients and physicians is crucial for fostering a collaborative and informed approach to healthcare. However, this approach typically requires more than a rushed 10-minute visit. This is especially true if the patient is providing you with a detailed narrative of their experience. The details you need are found in the narratives they are willing to share. For example, something as simple as a camping trip a few years ago can highlight a potential tickborne disease. A trip to a contaminated lake might highlight the cause of intestinal dysbiosis. These examples are endless. By extending a little more time and asking a few more questions, patients and healthcare providers can work together to ensure a more comprehensive and personalized approach to diagnosis and treatment, moving beyond nonsensical rigid assumptions and fostering a healthcare environment that values shared knowledge and mutual respect. Finally, remember that the “turn-&-burn” approach is not “care.” That approach is pharmaceutical distribution, at best. Your long-term reputation hangs in the balance. Act accordingly.

Dr. Robertson is a health researcher and educator, not a physician. The information provided here is not medical advice, a professional diagnosis, opinion, treatment, or service to you or any other individual. The information provided is for educational and anecdotal purposes only and is not a substitute for medical or professional care. You should not use the information in place of a visit, call consultation, or the advice of your physician or other healthcare providers. Dr. Robertson is not liable or responsible for any advice, course of treatment, diagnosis, or additional information, services, or product you obtain or utilize. IF YOU BELIEVE YOU HAVE A MEDICAL EMERGENCY, YOU SHOULD IMMEDIATELY CALL 911 OR YOUR PHYSICIAN.