UNDIAGNOSED FACTS & STATISTICS
• Patients are considered to be undiagnosed if no explanation for their symptoms can be found over a reasonable period of time. They may spend years going from doctor to doctor, and misdiagnoses, treatment delays and repeated, often unnecessary and costly tests are frequently the norm. Reasons for being undiagnosed include:
• Proper testing has not been done, or results were not interpreted correctly
• The right specialist has not been found
• The patient has a known condition that is presenting in an unusual way
• The illness has not yet been understood or named.
• The total number of undiagnosed patients is unknown but considered to be vast. To provide some perspective on this epidemic, consider that it takes an average of 7.6 years in the United States to uncover a rare disease diagnosis. Worldwide there are an estimated 350 million people living with a rare disease; add to those, patients still waiting for a diagnosis, patients who have been misdiagnosed, and adults and children who have diseases not yet named or recognized.
F.A.Q.
What Does “Undiagnosed” Mean?
Children and adults are considered to be undiagnosed if an explanation for their symptoms cannot be found over a reasonable period of time, despite repeated examinations. Why can’t they be diagnosed? A few of the many, many possibilities include: The proper testing has not been conducted, or the tests that have been done were not performed or interpreted correctly; the right specialist has not been found; they have a known condition that is presenting in an unusual way; or, they have an illness that has not yet been understood or named.
Why is the undiagnosed population important to pay attention to?
Historically, investigating medical mysteries has led to some of the greatest breakthroughs in treatment. Currently, when most undiagnosed children or adults die, there is no label, category, or database where doctors can file their medical information for future analysis. This results in losing a vast and untapped resource that could hold the key for discovering new diseases, furthering our understanding of current diseases, and finding new treatments and cures. The undiagnosed population has the potential to play a critical role in medical history.
Do undiagnosed people have any support?
Well-understood diseases, like cancer, often have charitable foundations raising money for research as well as patients, families and healthcare professionals that unite for mutual support. Being “undiagnosed” is not commonly considered to be an identity, but it should be. Simply creating a category called “undiagnosed” would give such individuals more of a sense of community and identity. Knowing you fit in fosters a sense of empowerment, purpose, and hope. Helping people who are ill feel that others are supporting and advocating for them, and know that they exist, can make all the difference in the world.
What is it like to be undiagnosed?
Without a diagnosis, patients often will not qualify for needed benefits or receive proper and compassionate healthcare. All they can do is to exist from day to day, feeling like they are drowning in confusion, desperation, and frustration. Living in a constant state of medical uncertainty is terrifying. Will I be able to continue working? Will my child live long enough to use their college fund? Many undiagnosed patients or parents of undiagnosed children are unable to plan for the next day, let alone any long-term future.
“It’s all in your head”
Without underestimating the complexities of differentiating medical and psychological conditions, a common thread that affects many undiagnosed patients is the tendency for doctors- sometimes out of frustration- to erroneously diagnose medically unexplained symptoms as psychiatric. Aside from the demoralizing effect this can have upon patients and their loved ones, the chances of a patient becoming accurately diagnosed in such instances are diminished. The words “it’s all in your head” often imply that the patient is to blame, causing their symptoms on purpose, or “faking.” Parents of children who have symptoms that cannot be explained can be at risk of being accused of causing the illness or of being neglectful or abusive. This is an important issue that needs more emphasis in medical schools and healthcare institutions.