JMIR Publications

ABSTRACT

Background:

Patients struggling with rare diseases may face challenges caused by care providers unfamiliar with their condition1. The life span of people with rare diseases may be the same as healthy people, but their quality of life is different. Patients with chronic pain are constantly looking for a way to mitigate their pain. Pain killers are not a permanent solution. In addition to the medical and non-medical costs of rare diseases for both patients and healthcare providers, there is a need for sustainable sources of information that are available for patients to help with their pain and improve their quality of life with the goal of reducing physician visits and hospital admission.

Objective:

The aim of this study is to investigate the challenges patients with genetic disorders face managing their health conditions and finding disease-related information as well as the effect of online peer support groups on pain mitigation and care management.

Methods:

Interviews were held via Zoom between July 2021 and December 2021. Eligible participants were older than 18 years old, had a medical diagnosis or a suspected case of any type of Ehlers-Danlos Syndrome with chronic pain, and were a member of any support group. Participants were recruited through an announcement under the research/survey section of the Ehlers-Danlos Syndrome Society webpage. Interviews were analyzed using the framework approach. Data were systematically searched to recognize patterns, analyze them and identify themes. Interview audio files were transcribed and independently coded by 2 researchers (SA, AT). Through an iterative process, a final coding table was agreed on by researchers and used to thematically analyze the data.

Results:

We interviewed 30 participants (mean age of 37.7 years, 96% female, 77% resided in the U.S.). Thematic analysis revealed participants (EDS patients) were constantly in pain and majority of them have not received accurate and timely diagnoses for many years. They expressed their challenges with healthcare providers regarding diagnosis and treatment and complained about their providers’ lack of support and knowledge in offering quality care. Participants’ main sources of information were online search, academic journals, The EDS Society webpage, and online peer support groups in Facebook, Reddit, Twitter, and Instagram. Although pain killers, cannabis and opioids are providing some pain relief, most of the patients focused on non-medical approaches such as hot/ice packs, physical therapy, exercises, massage, mindfulness, and meditation.

Conclusions:

This study highlights the information gap between healthcare providers and genetic disorder patients. EDS patients seek access to information from different online sources. To appeal to needs of genetic disorder patients, future interventions for improving quality of care must consider by healthcare professionals and government agencies via online resources.