Diagnosing and treating illnesses that affect only a very small percentage of the population can be very difficult for healthcare providers. Recognizing rare diseases is often problematic because there are not extensive informational resources or awareness about them. Rare conditions often lack comprehensive research and potential treatments may still be emerging.
Misdiagnosis
Mistaking a rare disease for a common condition may be an honest and even understandable error, but the consequences could be very serious. Unnecessary treatment for a condition which a patient does not have can result in further harm. Likewise, delaying the proper course of treatment could undermine its efficacy while also subjecting patients to unnecessary pain or discomfort.
Standards for care
In some instances, it may be possible for diagnosticians to identify rare diseases with advanced screening and testing. They have to decide on the appropriate course of investigation with lab work and imaging based on findings in routine testing as well as patients’ accounts of specific symptoms. If failure to perform adequate testing results in an inaccurate finding, a provider could be liable for medical malpractice.
New ways for providers to share and analyze data about rare diseases is facilitating formidable advancements in detectability as well as more treatment options. Both providers and patients can have new hope about difficult diagnoses.
