METHODS FOR STUDYING RARE DISEASE POPULATIONS

Haley MacLeod � Kim Oakes � Kay Connelly � Katie Siek School of Informatics and Computing Indiana University @haley_macleod www.haleymacleod.com

Amyotrophic Lateral Sclerosis (ALS)

< 0.05%

There are over 7,000 different rare diseases.

10% of the world’s population has a rare disease.

If everyone with a rare disease lived in the same country, it would be the

world’s third most populous nation.

Are there common problems experienced by people with rare diseases that can be addressed through design?

(Yes – see talk on Tuesday @ 9:30)

Age Nationality Language Health care system Physical abilities Cognitive abilities Technological abilities

{ Diverse

2 Studies:

Interview Study Survey

Interview Study

•  RareShare

•  RareConnect

•  The Rare Disease Foundation

•  Facebook groups

Recruitment

•  150 Responses

•  19 Participants

•  9 Countries

•  13 Different conditions

Participants Interview Study

Interview Study

Semi-Structured Interviews

•  11 Video

•  6 Phone

•  2 Instant Message

•  3 Participants emailed additional comments

•  1 Conducted with a translator

Interview Study Analysis

•  Inductive qualitative methods

•  Participants reviewed the paper before submission

•  None requested any changes

Survey

•  Based off questions from the Pew

Internet & American Life Project

•  technology use and information seeking

•  perception of health care professionals

•  Predicting common vs. rare disease

Questions

Survey

•  26 Facebook groups

•  8 Subreddits

•  276 Responses

•  22% Rare, 76% Common, 2% Both

•  23 Countries

Responses

•  Actively involved in advocacy initiatives

•  Feel responsible to participate in research

•  Happy to have someone to listen

Participant Attitudes Towards Research

•  Interested in the research process itself

•  Providing feedback on survey questions

•  Status updates on publications

Active Involvement in Research Process

•  Comfortable sharing sensitive, incriminating information

•  Emotional toll

•  Privacy protection mechanisms

Privacy & Sensitivity

Haley MacLeod hemacleo@indiana.edu

Kim Oakes kimoakes@indiana.edu

Kay Connelly connelly@indiana.edu

Katie Siek ksiek@indiana.edu