The Undiagnosed Patient
The Dilemma of the Undiagnosed Patient
In spite of the many breakthroughs in medical science over the years, a great deal remains unknown. Medical symptoms exist without known causes, and diseases are named without abilities to treat or cure them. A patient falling into the category of having an "unknown" medical condition may feel in limbo, and have an emotional need to believe in some diagnosis (even if it is incorrect) in order to attempt to cope with his or her medical problems. After all, patients continue to hurt even if a physician cannot find the source of their pain, and debilitating symptoms may continue even when the simple lab, the x-ray, or the complicated procedure, fails to provide an explanation.
Medicine Evolving through Research
There is still much to learn in medicine; many diseases remain to be discovered through research. Science continues to evolve with new information, but for many this process is not fast enough to help with their own health conditions. A
patient may be "suspected" of having a disease or disorder by
specialists, but there may not be available resources in testing, or the
financial means to prove the diagnosis.
Patient Expectations of an Easy Answer
When people feel ill, they visit their physicians for a diagnosis, and expect treatment that will make them feel better. Most times, this is exactly what happens. It may take a few days, a few weeks, or even a few months, but in the end, most patients receive a name and a treatment plan for their medical problems. Patients may be diagnosed with anything from a simple virus to a chronic disease, or even with a devastating illness that has no cure; but they know what is affecting them. With a diagnosis, comes the ability to tell others what is wrong, and to have an idea of prognosis, whether good or poor. Patients with more serious diagnoses gain opportunities to emotionally deal with new expectations of their futures, either learning to adapt or, tragic as it may be, dealing with end of life issues.
Patient Expectations Fall Short of Reality in Unknown Disorders
Apart from the majority of patients, there is a another population of people who suffer symptoms, sometimes debilitating, yet never receive a diagnosis. These undiagnosed patients are the most unfortunate ones, as without a name for their illness, they never hear a true prognosis, and cannot prepare for the future. These patients and families must continue to maneuver through a medical system unequipped to recognize their "zebra stripes" (the medical analogy for a rare disease), and all too often, become lost in the maze of the medical system, and forced to fend for themselves.
Be Mindful of Prejudice Against Undiagnosed Patients; Remain Kind and Validating
Many undiagnosed patients report that others seem awkward when responding to their medical problems. This can arise from a lack of understanding about their disease processes, or from disbelief that undiagnosed patients have a disease at all, since no specialist has been able to find or name it. Undiagnosed patients may feel their suffering is discounted by the world when unable to provide a name for their problems; family members, friends, and coworkers sometimes behave as if a medical problem can not possibly exist which cannot be identified. Unfortunately, such skepticism can be reflected even by the medical community, when providers are not cognizant of the limits of medical science, or are unsympathetic to medical presentations unfamiliar to them.
Rare New England is Here!
RNE realizes many struggles await patients and families who do not have a diagnosis, and may never find one. We know symptoms still exist without a name, and that such symptoms can cause debilitation, pain, and may interfere with the ability to support work, school, and social expectations. Such challenges can affect quality of life for a patient and family to a significant extent. RNE is here to listen, to validate the patient and family's experiences, and to assist in finding appropriate resources to improve quality of life for all patients, including those not yet diagnosed.
The Undiagnosed Network is a collaboration of clinical and research facilities across the US working to improve care for the undiagnosed that is being sponsored by the NIH..
To learn more about the Undiagnosed Network Program, follow this link:
Advocacy Groups for the Undiagnosed
