This week’s blog is taken from our 2016 ‘Student Voice’ essay competition entries. Heba Abbas, in answer to the question ‘The impact of a rare disease is much more widespread than its direct symptoms. Discuss how, with particular reference to the patient experience’, explored his own diagnosis of Ollier’s Disease. We congratulate Heba on his excellently-written and engaging essay, and thank him for allowing us to publish it as a blog.

I was looking at my mother’s face when the Orthopaedic Surgeon first gave me my diagnosis, and at the words ‘rare disease’, her face became grief-stricken, filled with fear. To this day, I will always associate Ollier’s Disease with these emotions. After nearly half a decade of uncertainty, and of numerous differential diagnosis, my mother should’ve felt relief at finally receiving a reason behind my numerous pathological fractures. Instead, as a doctor herself, she knew the uphill battle we were facing. Ollier’s Disease is poorly defined, due to it’s rarity and lack of research. Its implications are uncertain, and treatments are scarce. The prevalence of Ollier’s disease in the UK is 1/100,00 (1). It all began when I pathologically fractured my fifth metatarsal toe at fourteen years of age by simply stubbing my foot on the leg of a chair. On X-ray, I was found to have multiple cysts on the left side of my body, which made my bones fragile and easily prone to fractures. It took nearly eight months to heal, but I was left with chronic pain and unanswered questions. During that time, I wandered through countless appointments with Orthopaedics Surgeons, GPs, Geneticists, and Radiologists. All through that, I grew increasingly terrified at the confusion my healthcare providers felt when reviewing my case. My second pathological fracture was only a short while later after a minor accident that, at most, should have resulted in a small bruise. Instead, it resulted in a displaced fracture of the same toe. It was then that I was finally given my diagnosis of Ollier’s disease. Unfortunately, achieving a diagnosis is only half the struggle. Most rare diseases are under-researched; therefore, treatment is scarce and the future implications of the disease are unknown. Thus, a rare disease does not just carry a physical burden—and in my case chronic pain and multiple fractures—but it impacts many components of a patient life. This essay will aim to highlight the effect rare disease has on the patient, the family and the doctor/patient relationship.

Common diseases are common” is a saying often repeated to me by my medical-school professors. In most case, this is true, and is useful to remember while forming a diagnosis. But in my case, and in the case of many patients with rare diseases, it can cause years of misdiagnosis. This leads to years of uncertainty as well as a delay in necessary treatments and interventions. For me, it led to countless consultations with many different health care professionals. Without a diagnosis, I felt it difficult to explain my chronic pain to friends and families; therefore, my diagnosis gave me validation. After a literature search on Ollier’s disease, I found a limited amount of articles that often contradicted each other: some said that I had a 30% increased chance of a malignant tumor; some said differently (2). I was left feeling confused, baffled, and most of all, alone.  Many sufferers from rare disease can understand the frustration at the lack of research of their illness. As a result, it can cause the patient to feel powerless (3). I found that most of my anxiety stemmed from my lack of knowledge, and most of all, from the unknown implications. Rare diseases can also impact on how sufferers interacts with their community, and as a result, how they view their own disease.

Stigma is also an unfortunate consequence associated with rare diseases. As it happened with my mother, I was met with alarm when I disclosed my diagnosis to others. This caused me to view my own disease as an abnormality, as a hazard. ‘Mainstream diseases’ often have symptoms that are generally well-known; thus, others are more comfortable expressing empathy. Conversely, the limited knowledge surrounding rare diseases can cause fear, rejection, and misunderstandings (4). An example of this is the misapprehensions surrounding people with epilepsy. Due to a lack of understanding of the disease in the past, many patients were labeled ‘violent’ (5). I wore a cast for nearly three months, and while my classmates were initially empathetic, after some time, they began to feel that I was ‘seeking attention’ and ‘over-exaggerating’. Sufferers of rare disease can often face ‘discredited stigma’. Defined as stigma in illnesses that are physical manifestations, or, in my case, ‘discreditable stigma’ where the stigma can be concealed (4). It was not until I started speaking about my illness in class, and educating my classmates, did I feel empowered. Therefore, it is essential that there is both an increase in rapport about rare diseases in the general public. Lack of solidarity, or the sharing of common experiences, is often a recurrent theme in the lives of rare disease sufferers (6). Due to the scarcity of Ollier’s Disease, I was unable to find anyone in my immediate community who was suffering with the same disease. Consequently, I felt alienated. This is a common problem faced by rare disease sufferers, but, through the rise of social media, the internet has become a useful platform to connect with other people who have the same disease. It can provide emotional support, and act as a type of therapy. Through my own experience, I saw that the impact of rare diseases are not just limited to physical burden, indeed, it also effects the psychological and social aspects of a persons life.

The impact of a rare disease on the family members of the sufferer has a limited amount of literature and research dedicated to it. But it is consistently shown that families are often not offered counselling after a diagnosis, despite negative feelings of confusion and devastation (7). Families are further alienated in the community, where they do not have immediate contact with other people who have a rare disease in the family (8). My mother, after receiving my diagnosis of Ollier’s disease, felt grief-stricken but she did not have anyone else to share the burden with. Therefore, it is essential that support groups and routine psychological support is promoted after diagnosis (7). A child with a rare disease can force parents and siblings to adopt new carer roles, which can significantly elevate stress levels, financial burden, and depression, as seen in a study of parents of children with Fragile X syndrome (9). Parent can also feel inadequate in the role of carer, confused as to whether they capable of providing the best care. Despite my mother’s medical background, she constantly doubted herself, thus reducing her feelings of self-worth as a parent. However, after my mother was able to interact with other parents of rare disease sufferers, she felt reassured that her feelings were normal. Rare disease can impact families in many ways, and it is essential that they are supplied with adequate support throughout the entire progression of the disease.

The traditional doctor-patient role is fundamental in building trust and rapport, and providing the best possible care for the patient. As a medical student, I was taught the importance of taking a patient-centered approach to healthcare where the patients’ views and concerns are incorporated into a holistic management of their illness. Understandably, physicians cannot have knowledge of all disease, but this discrepancy can have an impact on the doctor-patient relationship. It forces a shifting of roles where the patient is forced to act as an expert in their own disease. After my diagnosis, my GP was unsure of my medical needs or how to proceed with my management. His lack of knowledge on my condition caused a deviation in our relationship. Suddenly, I became the expert, and consequently, I took an active role in my own care. Therefore, it is crucial that patients suffering from rare diseases are encourage to be active in the consultation, ask questions, and pursue knowledge from a wide variety of healthcare providers. Many studies have also shown that effective communication between the physician and the patient is essential for reducing patient anxiety, medical cost, and unnecessary tests (11-13).  This is true for me, I felt empowered after I had an honest conversation with my Orthopaedic Surgeon, in which I was allowed to ask questions, and share my fears. Unfortunately, some people that suffer from rare diseases face challenges in finding a doctor that has adequate knowledge about their case; thus, this can cause patients to feel alone in their struggle to deal with their disease (10).

During medical school, I was told time and time again that ‘continuous learning’ is key to being a competent doctor. In the UK, nearly 3.5 million people will have a rare disease (14), therefore, it is crucial that health care providers regularly update their knowledge on a variety of illnesses in order to tailor their care for each individual patient. Thus, only through our growing knowledge can we ensure that patients do not feel ‘alone’ in their disease and are made to feel empowered; that family members of sufferers are given support; and that we continue to foster prosperous patient-doctor relationships.

References:

  • 1) Silve, Caroline, and Harald Jüppner. “Ollier Disease.” Orphanet Journal of Rare Diseases. N.p., n.d. Web. 12 Nov. 2016.
  • 2) J, Liu, Hudkins PG, Swee RG, and Unni KK. “Bone Sarcomas Associated with Ollier’s Disease.” National Center for Biotechnology Information. U.S. National Library of Medicine, n.d. Web. 12 Nov. 2016.
  • 3) Miller J. (2000) Coping with Chronic Illness Overcoming Powerlessness, 3rd edn. FA Davis Co., Philadelphia, PA.
  • 4) Joachim, G. and Acorn, S. (2003), Life with a rare chronic disease: the scleroderma experience. Journal of Advanced Nursing, 42: 598–606. doi:10.1046/j.1365-2648.2003.02663.x
  • 5) Arangio A. (1974) Behind the Stigma of Epilepsy. Epilepsy Foundation of America, Washington, DC.
  • 6) Jessop, Edmund. “Walking with McArdle Disease: Alienation and Solidarity in a Rare Disease Journey | Jessop | Rare Diseases and Orphan Drugs.” Walking with McArdle Disease: Alienation and Solidarity in a Rare Disease Journey | Jessop | Rare Diseases and Orphan Drugs. N.p., n.d. Web. 12 Nov. 2016.
  • 7) Anderson, Matilda. “Australian Families Living with Rare Disease: Experiences of Diagnosis, Health Services Use and Needs for Psychosocial Support.” Orphanet Journal of Rare Diseases. N.p., n.d. Web. 12 Nov. 2016.
  • 8) Patsos M. The Internet and Medicine: Building a Community for Patients With Rare Diseases. JAMA.2001;285(6):805. doi:10.1001/jama.285.6.805-JMS0214-2-1
  • 9) Dyke P, Leonard H: The Australian Rett Syndrome Study Report 2006. Telethon Institute for Child Health Research, Western Australia; 2006.
  • 10) Budycha, Karolina, Thomas M. Helmsa, and Carsten Thomas. “How Do Patients with Rare Diseases Experience the Medical …” N.p., n.d. Web. 12 Nov. 2016.
  • 11) Epstein RM, Franks P, Shields CG, Meldrum SC, Miller KN, Camp- bell TL, et al. Patient-centered communication and diagnostic testing. Annals of Family Medicine 2005;3(5):415–21.
  • 12) Little P, Everitt H, Williamson I, Warner G, Moore M, Gould C, et al. Observational study of effect of patient centredness and posi- tive approach on outcomes of general practice consultations. British Medical Journal 2001;323:908–11
  • 13) Beckman HB, Markaki KM, Suchman AL, Frankel RM. The doctor–patient relationship and malpractice: lessons from plaintiff depositions. Archives of Internal Medicine 1994;154:1365–70.
  • 14) “UK Strategy for Rare Diseases.” UK Strategy for Rare Diseases. N.p., n.d. Web. 12 Nov. 2016.