First steps | Forgotten Patients: Overlooked Diseases

First Steps

Our goal is to build credibility, momentum, and lasting impact through a mix of short-term wins and long-term strategic projects.

Getting Heard

We’re working to raise awareness and share ideas through national platforms:

Opinion piece submitted to the Royal College of General Practitioners.
Presentation delivered at the Institute of Medical Ethics National Conference.
In discussion with the Royal Society of Medicine to host a one-day conference (target: April 2023) on the theme of the Forgotten Patient, exploring causes, potential solutions, and ways forward.

Kickstarting research

We plan to investigate conditions, patient groups, or ideas that have been historically overlooked or mismanaged, using a multidisciplinary lens. The insights gained will inform future efforts across broader areas.

Causes of Persistent Physical Symptoms

These symptoms may arise from:

Infections
Injuries
Medical diseases
Stressful life events
Or appear spontaneously (de novo)

Over time, clear medical explanations may become harder to find. A range of biological and psychological factors can contribute, including:

Persistent inflammation
Microbiome or immune dysfunction
Epigenetic influences
Depression or anxiety
Symptom-focused behaviours and avoidance
Early trauma
Learned responses and expectations

These factors often overlap across conditions and require a broad, holistic approach to care.

Focus Area: Ehlers-Danlos Syndrome (EDS) / Hypermobility Spectrum Disorder (HSD):

EDS/HSD is a relatively common but often misdiagnosed condition due to its wide-ranging symptoms and complexity.

About the condition:

Inherited connective tissue disorder
Prevalence: ~1 in 500 people
Symptoms span multiple systems, leading to scattered referrals and delayed diagnoses

Common Symptoms Include:

Joint hypermobility & pain
Gastroparesis
Dysautonomia & POTS
Migraines
Mast cell activation issues
Small fibre neuropathy
Non-epileptic seizures
Intractable hiccups
Irritable bowel syndrome
Gastro-oesophageal reflux
Rashes, angio-oedema
Dysuria & abdominal pain

Our Plan of Action:

We are launching a multi-pronged investigation:

1️⃣ Knowledge Gathering

Conduct a literature review
Map online resources and support groups
Interview patients and families

2️⃣ Key Focus Areas

Pathophysiology & diagnostic criteria
Symptomatology and disease course
Current management practices
Resource gaps and systemic barriers
Co-existing conditions (e.g., RCCX Theory)

3️⃣ Collaboration

Liaise with specialists at centres such as the EDS Centre at UCLH
Partner with patient advocacy groups, e.g. the Ehlers-Danlos Society

4️⃣ Alternative Patient Survey

We aim to conduct a patient-led survey to capture what truly matters to those living with EDS/HSD.
Topics will include:

Workplace experiences and disability discrimination
Childhood delays in diagnosis and school impact
Health and socioeconomic cycles
Symptom clusters and comorbidities (e.g., bladder issues, GI, seizures)
Environmental triggers and mast cell activation syndrome (MCAS)

Next Steps

Seek funding opportunities
Identify key collaborators and influencers
Build partnerships for future research and advocacy

Personal Story

“Last week, I was contacted by two of my former EDS patients who have no specialised support in the city of Sheffield or its neighbours. Both were managing their problems very well but were uncertain about new symptoms. As a retiree, I am no longer able to advise them, but pointed them to services for other conditions. I mentioned this group and they both were aware of many other individuals without medical support for a variety of EDS symptoms. The most worrying and inexplicable stories include antipathy and occasional hostility from some GPs and gastroenterologists. I hope this is local problem, but I doubt it.”