Groundbreaking FSHD Online Survey
The FSHD Global Research Foundation is teaming up with Melbourne based researcher, Dr Triecia Gibney, to develop a study which will explore the quality of life of people with FSHD.
There have been few attempts to quantify how factors such as symptom onset, age at diagnosis, symptom severity and the uncertainty associated with disease progression impact on the quality of life of people affected by FSHD. The research will attempt to address this gap with an online survey giving a voice to people who are living with FSHD all around the world.
The forthcoming online survey, that will be accessible via the FSHD Global Research Foundation website, will invite people from around the globe to complete a quality of life measure developed specifically for FSHD. Along with measures of pain, fatigue, functional limitations and psychological adjustment, key variables will include symptom onset, time to diagnosis, symptom progression and service utilisation in what is anticipated to be the most comprehensive survey of FSHD ever attempted on such a wide scale. The resultant data will provide an up to date profile to inform future research and service needs identification worldwide for people with FSHD.
FSHD has been termed a relatively benign condition and certainly with its wide ranging clinical severity that sees some individuals remain asymptomatic, it might appear benign. However for people who suffer mobility impairment, chronic pain or respiratory insufficiency, the term ‘benign' is a cruel misconception which may well have contributed to the 20-year lag in research into this condition.
It took until the 1990s and the beginning of great advances in the molecular genetic analysis of FSHD to renew interest in this condition that had first been described in the late 1800s. With recent exciting developments in stem cell research drawing international attention to FSHD, it is timely that current knowledge of the impact of this disease on its sufferers should be updated. It is promising that here have been a few recent attempts to redress the gap in biopsychosocial research into FSHD. For instance two studies have recently identified a high prevalence of bodily pain and severe fatigue in FSHD which have then been found to be associated with factors such as poorer social functioning and enjoyment in life. A further study by Miro and colleagues (2009) soon to be published in the American Journal of Hospice & Palliative Medicine, has also focused on biopsychosocial factors associated with chronic pain. However these studies are the exception where generally the neglect of FSHD in the psychosocial literature is striking.
FSHD Global would like to encourage all persons around the world afflicted with FSHD to participate in the research.
The Foundation will be making an announcement as soon as the survey is online and accessible.