Rare disease patients often face a difficult journey to diagnosis, commonly termed a ‘diagnostic odyssey’. This often involves moving from clinician to clinician, multiple misdiagnosis, unnecessary tests, and incorrect treatments. Saima Azam, medical student at University College London, shares how this diagnostic odyssey impacts patients’ experiences and relationships with their clinicians, as well as her thoughts on how this can be improved. The blog was originally written for Findacure’s Student Voice Essay Competition.
“I am very worried about my situation, I just want someone to tell me what is wrong with me.” – Mrs X
Mrs X is a 55-year-old lady who I had the pleasure of meeting in a nurse-led rheumatology clinic. She is the sole carer to her husband, who is registered blind and bedridden. As I took a history and examined this lady, I discovered that she had a range of seemingly unconnected symptoms. She complained of: red spots on the chest, nail changes of the toes, arthralgia of multiple joints, a lump in her throat, intermittent swelling of her nose and ears that pulsed uncomfortably. She had diagnosed Raynaud’s phenomenon, but no other medical history of note.
She was initially seen by her GP who referred her to the rheumatologist regarding the pains in her joints. She was seen by the consultant rheumatologist and diagnosed with ‘polyarthralgia’.
Polyarthralgia is a non-specific diagnosis. The Merriam-Webster dictionary describes polyarthralgia as ‘pain in two or more joints’.  Mrs X was then sent to the nurse-led rheumatology clinic, where I met her. The nurse-led clinic is primarily for patients with established uncomplicated diseases and routine follow-up.
Mrs X was very confused and worried about her symptoms. She felt passed on from one doctor to another, having not seen the same clinician repeatedly. She felt unheard by the doctors, because she wasn’t given a diagnosis or any treatment, or explained why she had not received either.
Mrs X was desperate for someone to validate her concerns. She repeated said phrases like, ‘Surely this isn’t normal!’. It was the rheumatologist’s opinion that this was an uncomplicated disease of joint pain, possibly fibromyalgia. Fibromyalgia is a diagnosis of exclusion, and is defined as ‘a chronic disorder characterized by widespread pain, tenderness, and stiffness of muscles and associated connective tissue structures that is typically accompanied by fatigue, headache, and sleep disturbances’.  It is often thought of as a psychosomatic illness.
Having met several patients with fibromyalgia, who often present with generalised joint pain and high stress levels, I was certain her symptoms were not caused by stress and had a unifying diagnosis. I expressed my concerns to the nurse in charge, and we agreed that this patient required further consultant input in regard to a definitive diagnosis.
My belief was that this was the manifestation of an extremely rare connective tissue disorder such as systemic sclerosis sine scleroderma. Systemic sclerosis is a rare autoimmune connective tissue disorder characterized by abnormal thickening of the skin. It may have specific features like calcium deposits in the skin, telangiectasia (red spots on the skin), Raynaud’s phenomenon, oesophageal dysmotility, and sclerodactyly (swelling of a finger). The exact cause of scleroderma is unknown, but genetic makeup may make an individual more susceptible. The early symptoms vary considerably, and often, Raynaud’s phenomenon is a common complaint in early systemic sclerosis. There are rarer types, including systemic sclerosis sine scleroderma, in which there is internal organ involvement without the skin changes. 
The nurse and I arranged for Mrs X to see the rheumatologist again. At the second consultation, Mrs X was given a tentative diagnosis of relapsing polychondritis, an extremely rare condition. The condition is characterised by recurrent inflammation of cartilage and other tissues throughout the body, commonly affecting the ears, joints, and nose. She was subsequently referred to an otorhinologist for further testing.
The journey so far has taken Mrs X the best part of a year. She expressed feelings of ‘loss and hopelessness’, as well as a feeling of ‘not knowing where to go, or what to do next’. She wasn’t sure which strange symptom would appear next, and she was also concerned that if she fell more seriously ill, who would take care of her husband.
While in the clinic, the nurse and I had a lengthy discussion about her symptoms and possible causes. I apologised to Mrs X for using jargon and not including her in the conversation, but she said she was thrilled that someone was discussing her case and trying to figure out what the disease might be. This highlights how important it is for patients to know what is being done to help their care.
Mrs X was pleading for someone to believe her and listen to her concerns and symptoms. The quality of a clinical encounter can be based on how well the communication is with the patient. Even in the case of no diagnosis or a wrong diagnosis, patients will feel satisfied if they feel they are heard and listened to, and have developed a good rapport with their doctors. Validation of their symptoms is important.
It is the view of pain specialists that the pain is where a patient says it is, and it is of the severity a patient says it is. Similarly, when searching for a diagnosis, the same empathy and attention to symptoms should apply. Even once the correct diagnosis is found, Davies et al. (2003) and Anderson et al. (2013) noted a lack of emotional support and inadequate information were main factors for negatively perceived sessions for patients having counselling for genetic conditions. 
Continuity of care may help in these situations. Especially in cases of no diagnosis but non-abated concerns, it may improve the patient clinician relationship to see the same doctor when followed-up. Building a rapport is key to a diagnosis, as the common saying goes that 90% of diagnosis are based on the history taken from the patient.
As many rare diseases are genetic, patients can present with a variety of seemingly unrelated symptoms. As was the case with Mrs B, she might present to some clinicians with skin problems and nail changes, and others with arthritis and Raynaud’s phenomenon. The onus is on of each clinician to not assume that no current diagnosis does not mean no underlying cause, and take a full exam and history again to avoid missing important signs and symptoms. In these cases, a full systems review would be relevant and key to a thorough assessment, as well as an explanation to the patient as to why they are repeating tests and investigations.
While people waiting for diagnosis, it may be worthwhile to organise check-ups with their general practitioners (GP) too. Once patients are referred on to secondary centres, their care for that problem is almost exclusively taken over by that hospital. Occasionally, if the specialist cannot find something wrong related to their speciality, they are discharged from clinic and sent back to the GP to manage. If patients were to communicate with their GP during this time, long periods between seeing the patient could be avoided.
A consultation with the GP gives them a chance to review the current clinic letters. Often, if there are several hospital clinic letters, the GP will not have time to read all of them. If regular appointments were made, the information could be passed to them in chunks so they have a better idea of the well-being of the patient. GPs also provide an opportunity for pastoral care from a position of stability, as patients can always return to their GP. In summary, in the case of no diagnosis or multiple diagnosis from hospital, the GP may become an important point of contact to fall back on for the patient.
Because patients with rare diseases experience the medical system differently to other conditions, they also provide important perspectives on developing therapeutics and screening tools.  Therefore, to improve services for other patients with rare diseases, it is important to rely on the currently known patients as a wealth of information. While in widely prevalent conditions, doctors may know more about symptoms and pathogenesis than the patients, the same does not follow for rare diseases. Due to the low prevalence of the disease, patients are forced to become an active and vocal participant of their care. In a number of interviews with patients with rare diseases like amyotrophic lateral sclerosis, Duchenne muscular dystrophy, epidermolysis bullosa, Marfan syndrome, interviewers concluded that it was important to acknowledge the essential role of the patient as an informed, involved and interactive partner in the treatment process. 
For patients with rare diseases, multiple misdiagnoses and tests are an unfortunate inevitability. Maintaining a good line of communication with patients, whether by ensuring the same consultant reviews them in hospital, or by encouraging regular GP appointments, is essential in enforcing a good patient-clinician relationship and ensuring continuity of care. Keeping patients updated on what steps are being taken to find the cause of their symptoms will also help patients to feel at ease.
 “Polyarthralgia.” Merriam-Webster.com. Accessed November 9, 2017. https://www.merriam-webster.com/medical/polyarthralgia.
 “Fibromyalgia” Merriam-Webster.com. Accessed November 9, 2017. https://www.merriam-webster.com/medical/fibromyalgia.
 Scleroderma – RareDiseases.org. Accessed November 9, 2017. https://rarediseases.org/rare-diseases/scleroderma/
 Helm BM. Exploring the genetic counselor’s role in facilitating meaning-making: rare disease diagnoses. J Genet Couns. 2015 Apr;24(2):205–12.
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 Budych K, Helms TM, Schultz C. How do patients with rare diseases experience the medical encounter? Exploring role behavior and its impact on patient-physician interaction. Health Policy. 2012 May;105(2–3):154–64.