Why is the project being carried out?
Defined as a group of disorders par0cularly effec0ng an individuals’ connec0ve 0ssues, Ehlers-Danlos
syndrome (EDS) is a rare gene0c condi0on that can affect the bones, skin, blood vessels and
numerous other organs and 0ssues (Malfait et al., 2017). Historically, the group of condi0ons have
been classified in a variety of different ways. Whilst, originally, 11 different forms were classified,
research aKempted to consolidate these into a simpler classifica0on, reducing the number to six
differing forms (Parapia & Jackson, 2008). However, following advancements in understanding, in
2017 the group of disorders were re-classified as a system of 13 dis0nct condi0ons (Malfait et al.,
2017). Whilst the group are collec0vely known as EDS, each type is now iden0fied as dis0nct through
different gene muta0ons. All but one (i.e. Hypermobile EDS) of the defined condi0ons are now
iden0fiable through gene0c tes0ng.
Previously, the wide range in symptomology across the condi0ons made diagnosis complex and oSen
difficult (Demmler et al., 2019). Such difficul0es are further exacerbated by the con0nual knowledge
being generated around the syndrome resul0ng in its reclassifica0ons several 0mes over the last 20
years. Despite now having gene0c markers for almost all the condi0ons, across the 13 types,
symptoms vary considerably ranging between mildly loose joints, joint sub-luxa0on’s and
disloca0ons, stretchy and easily damaged skin, chronic pain and fa0gue to hernias, aneurysms and
arterial ruptures, bowel and gynecological abnormali0es, as well as other life threatening
complica0ons (Bowen & Tocher, 2019; 2020). As such, whilst diagnosis should now be easier, the
range in symptoms can impact on an individuals’ process through medical care to diagnosis. It can
oSen be a long and cyclical process with pa0ents experiencing many exploratory referrals and even
miss-diagnosis before achieving their true diagnosis (Berglund, Nordstrom & Lutzen, 2000; Sinibaldi,
Ursini & Castori, 2015). This could be explained by the lack of awareness around the condi0on, and
acceptance that only the most severe symptoms equate to EDS characteris0cs as well as limited
diagnos0c criterion (Berglund, Anne-Catherine & Randers, 2009). However, previous research has
highlighted the significant and oSen debilita0ng impact EDS can have on a pa0ent’s life, even with
the more ‘minor’ criteria being present (Murrey et al., 2013). As well as having to manage chronic
pain, fa0gue and other associated condi0ons, pa0ents also oSen indicate nega0ve implica0ons for
their ability to work and achieve a good quality of life. Addi0onally, feelings of being unheard or
ignored as well as miss-diagnosis can have addi0onal implica0ons on pa0ent’s’ health and well-being
(Berglund, Anne-Catherine & Randers, 2009). As such, early diagnosis and management is essen0al
in providing the most appropriate care.
Whilst research has previously explored the diagnosis process for EDS from the pa0ent’s’
perspec0ves, much of this research considers it from pre-2017 re-classifica0on (Murrey et al., 2013;
Oderich et al., 2005). As such, research has largely focused on the experiences of those with a
hypermobility type EDS classifica0on (i.e. the previous classifica0on of EDS type 3) with more
ambiguous diagnos0c criteria. More qualita0ve research is needed to consider the experiences of
those undergoing and achieving diagnosis based upon the newer classifica0on system, and its
corresponding criterion. Subsequently, this study will address the ques0on, what are the lived
experiences of the diagnosis process for individuals with Ehlers Danlos Syndrome Post the 2017
reclassifica0on system?
Specifically, this research will aim to;
-Develop an understanding of par0cipants experiences of pursuing an EDS diagnosis within the UK;
-Gain an insight into specific experiences around the diagnosis process, including their experiences of
care and support from relevant health care providers;
-To gain knowledge that will enable health care providers insight into the impact of an EDS diagnosis
and the diagnosis process on pa0ents.
• How has it been designed to answer the research ques0ons?
Drawing from a phenomenological ontological and cri0cal realist epistemological stance (Smith,
2009), the study will develop an in-depth understanding of the experiences of pa0ents diagnosed
with a form of EDS post 2017. This will be achieved through individual interviews with individuals
who self-report as having a clinical diagnosis of one of the condi0ons within the EDS group, since the
2017 reclassifica0on.
• Who are your par0cipants?
Par0cipants will be aged 18 and over, of any gender, and have been diagnosed by a medical
professional within a UK clinic or hospital. Due to the aim to garner pa0ents’ experiences of the
current and most up-to-date diagnosis criterion, only those diagnosed post-2017 will be eligible to
take part. A total of 15 par0cipants will be recruited over a period of approximately two months
(schedule of ac0vi0es can be found in appendix A).
• How will they be recruited?
Par0cipants will be recruited through a voluntary strategy via online forums, social media groups and
the EDS UK support organiza0on website. Adverts will be placed on these forums invi0ng eligible
par0cipants to take part in the study (appendix B).
• How will data be collected?
Data will be collected through one-to-one, semi-structured interviews. Interviews should last
approximately 1 – 1.5 hours and will be guided by a schedule (appendix C). Ques0ons will largely
centre around par0cipants experiences of their symptoms, how they ini0ally sought medical care as
well as their journey to diagnosis and the impact of this. It is hoped that the ques0ons will also
gather insight around par0cipants experiences of medical professionals’ knowledge and aktude
toward the condi0on.
In addi0on to the above, data will also be collected pertaining to par0cipants diagnosis, length of
0me seeking medical support and other background informa0on (appendix D)
• Where will data collec0on take place?
Due to the nature of the condi0on and the current COVID-19 pandemic, par0cipants will be
interviewed online via either Skype, MicrosoS Teams or Zoom (depending on par0cipants
preference). All interviews will be recorded via a Dictaphone and MicrosoS Recorder in order to aid
transcrip0on.
• How will data be analysed?
In line with the posi0oning of the study and the aim to capture the lived experiences of the
par0cipants, data will be analysed on a case-by-case basis using interpreta0ve phenomenological
analysis. Analysis will be guided by the criterion proposed by Smith (2009).
