Over the past decade, societal attitudes towards mental health have shifted significantly, with psychological conditions becoming more openly discussed and widely recognised within healthcare. This progress has improved care for many patients;however, it has coincided with growing concerns among people who have rare physical disorders, whose symptoms are being increasingly misdiagnosed as mental health conditions, delaying accurate diagnosis and effective treatment.
It is estimated that over 300 million people worldwide suffer from a rare condition, with the National Library of Medicine (NLM) estimating that 1 in 2,000 people in Europe are affected. There are over 7,000 identified rare diseases, and of these 80% have a genetic origin. On average, rare disease patients (RPD) are misdiagnosed three times and consult with five doctors before finally receiving an accurate diagnosis. Yet despite the prevalence of rare conditions as a whole, it is clear that thesystem is not geared to accommodate the diagnosis process and setting up of treatment plans for both the physical and mental health of individuals.
I suffer from a rare condition called achalasia (type III) and have therefore experienced this process first hand. Type III achalasia is a condition whereby the muscles of the oesophagus constrict in intense, uncoordinated spasms, disrupting the passage of food and liquids into the stomach. My symptoms first started in November 2015, when I was 11 years old. During my first four visits to the local GP over a 5-month period, I was misdiagnosed with anxiety twice, supposedly worried about my year 6 exams, as well as with acid reflux and indigestion. Thankfully, I was in the incredibly fortunate situation whereby an underlying and potentially life-threatening additional medical condition sped up the process of my achalasia diagnosis, which led to my almost immediate Heller’s myotomy surgery, where incisions are made to the muscle at the base of the oesophagus.
Frustratingly, there have been numerous occasions over the years where I have required medical attention from paramedics and A&E departments, who despite having my medical notes on file, have treated me as though I was under the influence of drugs, experiencing a panic attack, or a drunken idiot who had too many to drink and vomited. There have also been occasions where I have gone to a consultation to discuss the ‘next steps’ in my treatment, once again to be confronted by the question ‘are you sure it isn’t just in your head?’
UK charity Achalasia Action provide support and research to push for wider recognition of the condition, and support those with it. In a report published on the 30th of September 2025 on misdiagnosis and late diagnosis, they surveyed 350 people (roughly 6% of confirmed UK patients) who have achalasia. This survey was conducted over a four-month period from December 2024 to March 2025. This recent report found that 82% of people received at least one misdiagnosis, with 30% being misdiagnosed four or more times. Of those who were misdiagnosed, 38% were told that they had anxiety.
A study from Genetic Alliance UK’s rare disease experience 2020 found that 44% of UK’s RDPs were correctly diagnosed on first attempt, in contrast to 19% for achalasia. This survey also determined that only 18% of those with a rare condition received two or more misdiagnoses, which begs the question, why is the rate of misdiagnosis so prevalent for achalasia.
Sarah, a respondent to Achalasia Action’s report, said that despite the seriousness of her symptoms, she was not taken seriously, stating that, “He literally laughed out loud when I told him that (I was having explosive regurgitations) as though he thought I was making it up or exaggerating.”
Another respondent, Jemma, admitted that she has ‘lost confidence’ in doctors following her battle for a diagnosis. This is not a rare circumstance, as Achalasia Action surmised that 28% of respondents had to change their healthcare provider to receive a correct diagnosis, and a further 16% went through private healthcare after becoming disillusioned with the NHS.
Gender also plays a significant role in how symptoms are interpreted, with research showing that women are more likely to have physical complaints mistakenly attributed to anxiety or other psychological disorders. Data procured by Achalasia Action discovered that the likelihood of waiting three or more years for an accurate diagnosis for a man was 18%, compared to 31% for women. Furthermore, women are 10% more likely to be misdiagnosed with anxiety, further pushing the agenda of women being labelled as ‘more emotional’.
This is especially obvious when researching a condition that solely affects women, such as endometriosis. Endometriosis is an extremely painful condition in which cells similar to the ones that line the uterus wall grow outside of the uterus, causing intense pelvic pain and potentially affecting the chance of fertility. A study by Endometriosis UK found that the average time for diagnosis currently sits at eight years and 10 months, with the most common method of diagnosis being laparoscopy. This is a disgraceful statistic for a condition that affects 1 in 10 women nationwide. Of the 4,371 women that Endometriosis UK surveyed, 70% of them saw a GP five or more times, and 47% on ten or more occasions prior their eventual diagnosis. 78% stated that at least one medical professional told them that they were making a ‘fuss about nothing’.
Misdiagnosis is a common reality for people with rare conditions, particularly when physical symptoms are misattributed to mental health problems. I spoke to one such patient, who will be referred to as Jane. She believes she has endometriosis and has been fighting for a diagnosis for over five years. “The symptoms first began when I was 15. I couldn’t go into school because I was being sick and feeling dizzy, and my mum was like ‘that’s not normal’.”
Jane said she has sought a diagnosis on four separate occasions, but has repeatedly been dismissed, “I’ve been told it’s anxiety, and talk to a therapist, and then realised that the problem I’m having isn’t anxiety.” She admitted that the constant dismissal has had a severe impact on her mental health, especially as her diagnostic journey has coincided with exams and university. “The lack of care and listening to me in the first place has really affected me mentally, because it’s just quite depressing and I want to just get on with my life without being in pain. I know that something is not right with me, and it just feels like I’m not being listened to.”
Situations such as this can easily demonise mental health, and wrongly so. Discussions surrounding mental health are quickly becoming more common and socially acceptable, and simultaneously, reports of people suffering with such psychological conditions are becoming much more frequent. A study conducted by The Mental Health Foundation found that in 2023, across men and women, 33.5% reported severe levels of anxiety, whereas only 20.1% reported it between 2012 and 2015. The shift in social awareness of the importance of mental health has led to a trend of psychologization, which is the process of turning one’s physical distress into a scapegoat diagnosis. This happens in detriment to the rare disease patients whose symptoms already place a substantial strain on their mental wellbeing, as clinicians use of medical gaslighting can compound psychological harm while simultaneously obstructing diagnosis and treatment.
Modern medicine claims to follow the biopsychosocial model, a holistic concept created by George Engel, an American specialist on internal disease, in 1977. His model rejected mind-body dualism, a theory that the mind and body worked independently from one another. The biopsychosocial model determined that there are three key factors to a person’s wellbeing; biological, psychological, and social, and that these all influence one another and contribute to a person’s overall health. This model asserts that doctors ought to consider a patient’s individual circumstances, which incorporates psychological and social factors. As the condition continues to affect the physical health, diagnostic overshadowing can exacerbatepsychological distress, provoking isolation, damaging social relationships and work opportunities, thereby feeding into the doctor’s original mental health diagnosis.
To further my research into whether there is a defined correlation between the worsening of a patient’s mental well-being, through persistent medical dismissal, and the further deterioration of their physical health, I sat down with Jay Wakefield MSc Neuropsychology. She explained that “the assertion that their account is not to be believed could lead to cognitive dissonance, a sense of incongruence between their actual lived experience and what they are told is the reality by someone of social and medical standing. This has many negative ramifications for mental health, ranging from lowered self-esteem and worth, to a breakdown of perceived reality, such as someone might experience in a psychotic break.”
When symptoms arise, a person’s most likely first contact will be with their local general practitioner, however this is becoming increasingly challenging. A study by InTouchNow found that in 2023, 7.6 million people in the UK were left waiting over two weeks for a GP appointment.
Most surgeries only offer ten-minute appointments, which makes diagnosing a complex and rare disorder almost impossible in such a short space of time. The main reason for this is the surging patient volume. Statistics published by the British Medical Journal (BMJ) discovered that the number of patients a surgery provides care for has grown substantially, from 1,938 in 2019 to 2,260 in 2025. Additionally, the number of GP appointments across the UK per annum has increased from 312 million to 383 million in the same period. This is one of the reasons that 28% of patients who are eventually diagnosed with achalasia changed their healthcare provider during their diagnostic journey.
There are a number of patient-led organisations and charities advocating for change to improve the treatment and care of patients with rare conditions. The largest one of these is the Eurordis Rare Barometer, a one-of-a-kind charity that surveys over 1,000 rare diseases worldwide to work to improve the quality of care, shaping research and implementing changes to policies and services to accommodate this demographic. Their report from May 2024 surveyed 13,300 respondents from over 100 countries and represented 1,675 conditions. It found that the age demographic that has the longest average wait time is people between the ages 10-20, at 10.4 years from first contact until confirmed diagnosis. This is closely followed by the 2–10-year-old bracket at 8.8 years. This study also discovered that women have a longer diagnosis odyssey, at an average of 5.4 years, compared to their male counterpart’s average diagnosis time of 3.7 years.
Our stories raise an unavoidable question: what needs to change? This is not an isolated case, solely affecting us, but rather a fraction of the systemic failure which has led to a breakdown of trust in the medical establishment. A UK study from 2015found that 87% of undiagnosed patients felt that they were not being provided with sufficient information and support during their diagnosis process. There are four key factors to improving the quality of care for patients living in the UK with rare conditions, the first being developing the education on diagnosing rare or complex conditions. There is, however, no amount of education that will perfect the diagnosis process, which is why the implementation of clearer and more accessible diagnostic pathways is vital to the improvement of the system. Patients being able to access specialists earlier in their medical journey will prevent worsening of symptoms, as well as counteract the psychological distress experienced by a vast majority of patients currently. Thirdly, a support structure, both during the diagnosis process and onwards is vital, with most rare disease patients admitting that at no point had they been asked about how their condition was affecting their mental health. This is especially significant for patients whose psychological well-being has a direct correlation to their physical health.
Finally, and by far the most important factor, is building a sense of trust between patients and medical professionals. A willingness to listen to the distress the patients are experiencing, even if it exists in a gap in your knowledge, without diagnostic gaslighting them to believe it’s purely psychological. Patients are aware that diagnosing a rare condition is a challenging task, but exhibiting empathy, and understanding that you are not infallible is vital to the physical and mental health of the patient. Just because it’s a rare or invisible disease does not mean it doesn’t exist.
If you or someone you know is struggling from a still undiagnosed medical condition, do not hesitate to get in contact with your GP as many times as necessary, don’t let dismissal prevent diagnosis.
Alternatively, if you have achalasia, endometriosis or any rare condition, I wholeheartedly recommend reaching out to their Facebook or Instagram support group, or one of the many charities, to talk to and hear from others who understand your struggle. You don’t have to go through this alone.
To participate in Eurordis Rare Barometer: https://www.eurordis.org/rare-barometer/english/
Endometriosis helpline: https://www.endometriosis-uk.org/helpline
Achalasia Action helpline: 0300 772 7795