A Day in the Life of a Rare Disease Patient: Empowerment

“Everything I know about my condition is due to my own research on the internet. I am unaware how much of this is correct or what I’m missing.” – Patient, Morquio syndrome.

“On many occasions I end up explaining and ‘educating’ professionals about my condition as they have little knowledge and/or have not seen a case like me before.” – Patient, pituitary apoplexy and Cushings disease.

“It is the most isolating part [that there are] no groups, no one to share the illness with.” – Patient, mesenteric panniculitis

Rare Disease UK published the results of a survey to 1203 individuals affected by a rare disease in January (link) to understand their realities. I will post summaries of four sections in the report: Patient Empowerment, Diagnosis, the Undiagnosed, and Research.

We trust our healthcare providers more than any other profession. In fact, nurses, doctors, and pharmacists occupy all three of the top most trusted professions, according to a Gallup poll (link). We trust them and rely on them for the medical information and advice that we need for our wellbeing.

While this system of trust and unidirectional information flow works with common diseases that are well covered in medical schools and diagnosed and treated routinely in hospitals, the system breaks down with rare disease sufferers.

Over half of the survey respondents indicated that they did not receive any Screen Shot 2016-02-08 at 5.17.52 PM valuable information from their physicians and either had to look up the disease on their own, reach out to an advocacy group, or never received useful information on their condition. While 68% of respondents felt that they had sufficient knowledge of their condition, many had to become their own disease experts and have become educators to their physicians.

This role reversal makes it difficult for the undiagnosed or those seeking more information about their condition to find that information. If healthcare providers – the traditionally trusted information sources – cannot provide the information needed by rare disease sufferers, where can these patients turn?

This is where advocacy groups and the patients themselves come into play. Advocacy groups like Rare Disease UK – and Global Genes and NORD in the US – help by empowering patients to organize and consolidate their collective knowledge. Communities such as PatientsLikeMe and Inspire also enable rare disease sufferers to share their experiences, challenges, and treatments. At WeHealth, we use crowdsourcing to leverage our social networks in order to connect these patients to advocacy groups and to each other so that they can share their knowledge.

In an earlier post (link) that I wrote about Matt Might’s son, Bertrand, we saw how crowdsourcing can create a community where there was previously nothing, and how powerful that community can be for empowering those affected and helping them move forward toward finding a treatment. These communities free rare disease sufferers from their isolation, where misinformation, misunderstanding, and misdiagnosis run rampant, and enable them to heal.

View other articles in the “Day In The Life” series: Patient Empowerment,Diagnosis, the Undiagnosed, and Research.

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