The medical experience of a patient with a rare disease and her family

This letter considers the main challenges that people with rare diseases and their families face: delay in diagnosis, lack of appropriate support and information, and impaired access to treatment. The differences in medical experience between a patient with a rare disease and one with a common one are made through the use of a real-life example: the diagnosis of leiomyosarcoma received by my mother. I highlight how patients with rare disease are often misdiagnoses and how their symptoms are often overlooked. I also highlight the isolation patients with rare diseases and their families experience due to the lack of knowledge about their condition, the struggle to access treatment and the small amount of information and evidence based medicine for managing rare conditions.

This article was the winning entry in the Findacure essay contest ‘The Student Voice’. More information about Findacure can be found at http://​www.​findacure.​org.​uk.

I remember the day my father called me to give me the terrible news. I could not believe that it was my own mother affected by a disease with such a frightening name. Remembering the spelling so I could Google it was hard enough. I was only at the end of my first year of medical school and thought it was normal that I had never heard of it. I soon realised that it was too rare to be covered in lectures. In the few hours after my father’s call I discovered that uterine sarcomas account for 1 % of uterine cancers [1], and uterine cancer in turn makes up only 2.5 % of cancer diagnoses [2]. I could not find a specific incidence rate for her cancer, because no one was ever sure of the diagnosis. Suddenly, I realised that the challenges my family was going to face to receive appropriate care were greater than the ones we would have faced had this cancer been more common.

A rare disease is defined by the European Union as a “disease that affects less than 5 in 10,000 people” [3]. There are between 6000 and 8000 rare diseases [3]. Collectively, they are common: in the UK 1 in 17 people will be affected by a rare disease at some point in their life [3]. Rare diseases are heterogeneous: they can result from a single gene mutation, often inherited, or from a combination of environmental and genetic factors.

In this essay I consider the main challenges that people with rare diseases and their families face: delays in diagnosis, lack of appropriate support and information, and impaired access to treatment.
Full article http://ojrd.biomedcentral.com/articles/10.1186/s13023-■■■■■■■■-7