This week’s blog features another of our fantastic essay competition submissions. Jessica Grace uses her personal involvement as both a doctor and patient to compare the medical experiences associated with common and rare conditions.

Patients with rare diseases face huge obstacles in healthcare due to disbelief in their symptoms, difficulties gaining correct diagnoses and lack of information regarding their condition. This often leads to loss of confidence in the healthcare system.

I am in a unique situation as I am a medical student who also has a very rare medical condition. I can directly compare my experience to the experiences of patients I have seen with more common conditions.

Doctors are trained to recognize a set list of symptoms, which works well when diagnosing common conditions. For example, a patient with hyperthyroidism presents with a set of well-known symptoms, including heat intolerance, nervousness and weight loss [1].

When patients present with symptoms that do not fit into the neat textbook boxes that doctors are taught during their training, they often fail to acknowledge the problem. This can be highly distressing to the patient, leading to mistrust and frustration. In a survey by Rare Disease UK, almost half of rare disease patients waited over a year for diagnosis from initial onset of symptoms [2]. Patients may be passed from doctor to doctor, with 68% seeing over three doctors before the correct diagnosis was reached [2].

It took me 10 months to receive a diagnosis. Many doctors dismissed my symptoms and some suggested it was in my mind rather than acknowledging they did not know the cause. I had difficulty accessing pain relief and was even accused of abusing drugs by my GP. This caused me to become disillusioned with the medical profession. A loss of confidence in the healthcare system is described in almost 20% of patients eventually diagnosed with a rare disease [3]. Being made to feel symptoms are not real causes great psychological stress to both patients and families [4].

I was given several incorrect diagnoses before my final diagnosis; another common issue amongst patients with rare conditions. Forty percent of rare disease patients report a wrong initial diagnosis [5]. Delays obtaining a correct diagnosis cause delays obtaining treatment. Inappropriate medical interventions may also be carried out, including surgery and psychological treatment. This can have severe, even life-threatening consequences on patients as the disease may deteriorate further [3].

I received physiotherapy for several months because I was told my condition was musculo-skeletal. This delayed me seeking further help and prevented me receiving the treatment I needed. By the time I was diagnosed, I was much more systemically unwell which hugely impacted my subsequent recovery. Patients may also seek help privately because the wait for NHS appointments is so long, which adds a further financial drain, particularly if they have already had to give up work [3].

Another problem with rare diseases is that many routine tests come back negative. In hyperthyroidism, a blood test detects raised T3/T4 with low TSH,1 giving clear biochemical confirmation of the suspected diagnosis. With rare diseases, multiple tests may show nothing. This can be disheartening, as doctors may doubt a patient’s symptoms even more. In my case, several MRI scans failed to show anything, leading doctors to suspect my pain was solely due to muscle spasm. Only when a biopsy was performed did I eventually receive a diagnosis.

In addition, there may be a lack of effective treatment for rare diseases. For our hyperthyroid patient, several well-known treatment options are available, including medications, radioiodine therapy and surgery [1]. For rare disease patients, there may be no effective treatment, or they may have to try numerous medications before finding one that helps. There are often no clinical guidelines and few studies to refer to, so physicians have to use trial and error when trying treatments. This is very frustrating for patients, who have waited months or even years for a diagnosis, only to find there is no standard therapy for them. I took four different medications before finding one that helped, during which time I was on high doses of steroids just to be able to function.

Moreover, many drugs used to treat rare conditions have heavy side effect burdens so patients have to weigh up this risk/benefit ratio, particularly when there is no guarantee the medication will work. Patients with rare diseases may also find it harder to access treatments because drugs may not be licensed for this use on the NHS. There also appears to be variation in access to off-label or unlicensed medications for rare diseases [2].

Another major issue is the lack of coordination in healthcare for those with rare diseases. One specialist is usually sufficient to manage a common condition. In contrast, patients with rare diseases often see a variety of specialities for different aspects of their condition. However, there is frequently no central person to take responsibility for the patient as a whole. In a survey of 12,000 rare disease patients, the average patient required over 9 different medical services in a two-year period [3]. In spite of this, 75% of respondents to RDUK’s survey have no one overseeing their care [2]. This can have huge negative effects, resulting in a lack of continuity, unnecessary duplication of tests, and even hospital admissions due to mismanagement [2].

A dermatologist manages my condition, however I am also seen by endocrine, respiratory, urology and haematology specialists, as well as at a metabolic bone clinic. Many of these are to deal with side effects from medications, but they have to be managed by specialists other than the doctor who initially prescribed them. Despite attending multiple clinics, no one coordinates my care. My GP surgery is a busy clinic in South London who is unwilling and unable to bear this responsibility.

It can also be difficult for rare disease patients to know whom to consult for an acute problem. GP appointments are difficult to come by and there is often not enough time to explain complicated medical histories at an emergency appointment. Failure to appreciate the complexities of a rare condition can result in inappropriate management of the presenting complaint. As an immunosuppressed patient with a UTI that has failed to respond to one course of antibiotics, I was prescribed several more antibiotic courses rather than being sent to hospital. As a consequence, I developed urinary sepsis and haemorrhagic cystitis, leading to a prolonged hospital stay.

Lack of awareness of complex health issues is evident not only in primary care, but also in a hospital setting. Patients with rare diseases become experts in their own bodies and will often only come to hospital when absolutely necessary. Doctors who fail to listen to them can have devastating effects, as the patient may subsequently only present to hospital when they have become very severely unwell. This leads to worsening clinical states and development of more serious complications, in turn leading to longer hospital stays. On one occasion, I was discharged from A and E by a junior doctor who failed to appreciate my complicated medical history. This resulted in me being admitted several days later for a three-month inpatient stay, because I had become so unwell with Pneumocystis Pneumonia and CMV pneumonitis/retinitis.

Another major difficulty rare disease patients encounter is the role-reversal in the doctor-patient consultation. Traditionally, physicians have taken a paternalistic role in which they dominate the consultation and provide information regarding the patient’s illness [6]. However, in rare diseases, doctors may lack sufficient knowledge to do this. Instead patients have to research their own condition and may become more knowledgeable than physicians themselves. Some doctors resist this form of patient empowerment, leading to hostility and irritability in the consultation. They may reject the patient’s assertive behaviour, seeing them as arrogant and threatening to their social power [6]. A survey of American Internet users found that 13% received “the cold shoulder” on giving Internet material to their doctor [7]. Patients can be made to feel they are ‘over-informed’ or ‘problem patients’. This is a barrier to effective communication as it discourages open dialogue between the doctor and patient [7].

Rather than being a hindrance in the doctor-patient relationship, patient-acquired expertise can be useful as it produces a collaborative and dynamic relationship between doctor and patient, ultimately helping to achieve the best possible treatment plan [8].

Many lessons can be learnt from the experiences of patients with rare diseases within healthcare. Rare diseases can be disabling, painful and even life threatening. Delays in diagnosis and inappropriate interventions cause patients to lose confidence in the healthcare system and increase the psychological distress they feel. Even if the disease is not curable, treatment can improve symptoms and quality of life. Better training is needed to target the lack of awareness of rare diseases amongst both medical students and practicing healthcare professionals. There is also a need to develop more effective systems for referral to specialist services to aid diagnosis of rare diseases.

Rare disease patients are a vulnerable group of society who suffer under a system designed for those with more common diseases. We must recognize the issues these patients face and work to improve healthcare services in order to provide this frequently marginalized group with the highest standard of healthcare possible.

References

1. Lee S., Ananthakrishnan S., Hyperthyroidism: Practise Essentials, Background, Pathophysiology, Medscape, 2015, http://emedicine.medscape.com/article/121865-overview

2. Limb L., Nutt S., Sen A., Experiences of Rare Diseases: An Insight from Patients and Families, Rare Disease UK, 2010, http://www.raredisease.org.uk/documents/RDUK-Family-Report.pdf

3. The Voice of 12,000 Patients: Experiences and Expectations of Rare Disease Patients on Diagnosis and Care in Europe, EURORDIS, 2009 http://www.eurordis.org/IMG/pdf/voice_12000_patients/EURORDISCARE_FULLBOOKr.pdf

4. Anderson M., Elliot EJ., Zurynski YA., Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support, Orphanet Journal of Rare Diseases, 2013, 8, 22

5. Knight AW., Senior TP., The common problem of rare disease in general practice, Medical Journal of Australia, 2006, 185 (2) 82-3

6. 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, 105 (2-3) 154-64

7. Broom A., Virtually [email protected]: the impact of internet use on disease experience and the doctor-patient relationship, Qualitative Health Research, 2005, 15 (3) 325-45

8. Ayme S., Kole A., Groft S., Empowerment of patients: lessons from the rare diseases community, Lancet, 2008, 371 (9629) 2048-51