First steps

Advancing the group requires a mixture of short and long-term activities, quick wins, and credible projects to build momentum and engender respect.

Getting heard

We have written an opinion piece to be published by the Royal College of General Practitioners and presented on the topic at the Institute of Medical Ethics national conference.

Our group is in discussion with the Royal Society of Medicine regarding a possible one-day conference in April 2023. The aim is to explore the problem of the ‘Forgotten Patient’, present possible solutions and seek a range of views as to the way ahead.

Research

We have to start somewhere. To kick-start the group, it is proposed to examine several ‘forgotten’ disease areas, patient groups or lost ideas in detail to better understand how these could be advanced by a multidisciplinary approach. Our hope is the lessons learned can be applied elsewhere.

Ehlers-Danlos syndrome

One such area is Ehlers-Danlos syndrome / hypermobile spectrum disorder. This is a relatively common problem with multiple potential features of varying severity. It is therefore not surprising that a hurried history taking may result in referral to a range of different specialties e.g., orthopaedics, gastroenterology, neurology, and psychiatry, without anyone realising the underlying pathophysiology.

Inherited condition
Prevalence of 1 in 500

Symptoms include

joint hypermobility,
joint pain,
gastroparesis (paralysed stomach),
migraine,
dysautonomia,
mast cell instability,
small fibre neuropathy,
postural orthostatic tachycardia syndrome (POTS),
non-epileptic seizures,
intractable hiccoughs,
irritable bowel syndrome,
angio-oedema (swelling beneath the skin),
rashes,
gastro-oesophageal reflux,
dysuria (discomfort on urination),
abdominal pain.

We plan to

undertake a literature search, explore online resources and speak to patients and their families. Areas of interest include
- pathophysiology,
- presentation and symptomatology,
- diagnostic criteria,
- current management,
- disease course,
- problems encountered by patients and families,
- mapping of resources and support organisations,
- co-inheritance of overlapping chronic medical conditions (RCCX Theory).

liaise with specialists in the field e.g., EDS Centre at UCLH, and patient groups e.g., Ehlers-Danlos Society and other initiatives

perform an ‘alternative’ patient survey exploring the diversity of symptoms, patterns of disease and issues of importance to those affected and their families. By these means, we hope to better understand what is missing and what resources could be of most value. Topics of interest include
- work, disability discrimination, employer, and colleague attitudes,
- delays in diagnosis and treatment in childhood leading to missed schooling and poorer educational attainment,
- the vicious circle of insecure jobs and poorer health,
- comorbidity correlations within personal and family history, clusters of symptoms (typically GI, bladder dysfunction, migraine, non-epileptic seizures, skin reactions),
- features secondary to environmental stimuli and mast cell activation syndrome (MCAS).

look for funding opportunities and persons/individuals of influence.