Office of rare diseases NIH

Of Rare Diseases and Zebras...I will start by saying that rare diseases are a significant player in modern healthcare that are often overlooked or ignored because they are not widely known. Some of the following suggestions come from my experience having been diagnosed with numerous rare diseases including Langerhans Cell Histiocytosis, Ehlers-Danlos Syndrome, Postural Orthostatic Tachycardia Syndrome, Idiopathic Intracranial Hypertension, and Addison’s Disease. As a rare disease advocate, I strongly believe that patient-physician partnership is essential in the treatment of rare diseases. I hope that these partnerships will be formed more frequently as modern healthcare evolves. From my experience with the rare disease community, many of the patients I know are eager to learn about their diseases and provide information to healthcare practitioners. Rare disease patients often refer to themselves as “zebras” due to the often referenced quote in medical circles “When you hear hoofbeats, think horses, not zebras.” That is true, but remember – there are many zebras out there, too, and we depend on physicians’ willingness to learn and partner with us to find diagnoses, treatments, and hopefully eventually cures for our rare diseases.

There are close to 7, 000 rare diseases that affect 30 million Americans (“About NORD”). In the process of searching for a diagnosis, patients with rare diseases will find themselves in countless doctors offices, often waiting years for a diagnosis and treatment. Healthcare professionals will most likely encounter patients with rare diseases on a daily basis, but the lack of knowledge of specific rare diseases makes many health practitioner-patient interactions frustrating, or even life-threatening if the medical professional is unaware of the severity of problems caused by a rare disease.

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Popular Q&A

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Blood diseases? leukemia?

Bruising alone is not indicative of leukemia. Bruising for a year with no other symptoms means it would be very, very unlikely to be something serious like leukemia... you would have gotten very, very sick in the meantime.
It may be a mild bleeding disorder, or it may be nothing at all.

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