With yesterday’s Rare Disease Day featuring the publication of our 2018 essay competition winner, we are taking the opportunity to share another of our fantastic entries in our blog today. This essay focuses on what future doctors can learn from rare disease patients and was written by Georgia Baldry, a second year student studying Applied Medical Sciences at Swansea University. We hope you enjoy it!

As a student with the hope of becoming a doctor in the future, I share many experiences with my peers including long lectures, interesting workshops and dreaded exam weeks. However, I also have a somewhat unique perspective, shared by only a handful of fellow medical science students – I have a rare disease. There are certain things we are all taught while studying, like showing empathy for patients, but experiencing things from both the side of the future doctor and the patient, I have learnt additional things that will certainly help me in my career. It would benefit other future doctors to learn some of these things too, to help them provide the best care possible and be the best doctors they can be.

I have Hypermobile Ehlers-Danlos Syndrome (hEDS). The Ehlers-Danlos Syndromes are a group of connective tissue disorders in which the body produces faulty collagen that is too stretchy and weak. There are 13 types of EDS, with hypermobile type being the most common, affecting around 1 in 5000 people.1 There is no cure. It can affect almost any part of the body including the joints, skin, digestive tract, bladder and many others. Personally, I have many symptoms including daily joint dislocations and subluxations, chronic pain, fatigue, digestive symptoms and a form of dysautonomia called Postural Orthostatic Tachycardia Syndrome (POTS). I was diagnosed at age 19, relieved to have found what was causing my lifelong symptoms that had gradually worsened to the point where they had become debilitating. Though I am fortunate that my journey to diagnosis was not as long as some, it has had many ups and downs and I have definitely learnt a lot from it.

A trait I admire in many other people I know with rare diseases, and their families, is their determination. When you are living with symptoms that no one can seem to explain, there are many times when people will not believe you. It can be disheartening to live with very real symptoms while others dismiss them or downplay them. Aside from the problem of not getting the correct treatment for the physical symptoms, this can be incredibly damaging for mental health. I have seen so many doctors that I can’t even remember them all and many have told me things like “there is no reason why you should be having these symptoms” or “you’re too young to be this unwell”, even though around 50% of those with a rare disease are children.2 When enough people tell you these things, it is easy to start believing them. Patients with rare diseases often show determination in spreading their expertise and raising awareness for rare diseases to prevent people, especially healthcare professionals, being misinformed. I am thankful to the doctors and other healthcare professionals I have met who have not only believed me but fought for me to get the answers and treatment needed. My family has shown unrelenting determination during my journey to diagnosis, for which I am so grateful, and I have seen many examples of amazingly determined patients, family and friends who have continued to fight for their loved ones no matter how difficult the situation. I would encourage future doctors to learn that although doctors know medicine, a patient knows their own body. If a patient knows there is something wrong and is determined to find answers, a doctor should show the same determination to fight for their patient to receive the correct diagnosis and treatment.

Being open minded is important in many aspects of life and this is no different for doctors. It is unreasonable to think that, as a doctor one can remember every piece of information about the body and anything that could go wrong with it. Having an open mind is an advantage as a doctor because it allows you to not only be open to working with colleagues, asking for their help or opinion, but also open to working with patients. As patients with rare diseases are often experts in their own condition, it can be of benefit to doctors to be open to using the patient’s knowledge and experiences when formulating and executing a treatment plan. I have witnessed a difference in treatment from doctors who discuss things with me and those who talk at me, the latter is usually because they believe I do not have sufficient knowledge and understanding. A doctor cannot retain all possible knowledge and trying to do so can be damaging for wellbeing. Future doctors should be open to learning new information from patients as well as colleagues and be open to including patients more in discussion about their treatment because often patients with rare diseases are well researched and may have suggestions and ideas for things like investigations and treatments to bring to the table, due to their expert and unique knowledge of how it feels to live with their condition.

Curiosity is something that seems to fade from many of us as we get older. People stop asking questions because they don’t want to feel inadequate or be judged for not knowing. This seems particularly true in the medical profession. Many students and doctors are keen to stick to what they have been taught, no more, no less, and usually rightly so. After all, when you hear hoofbeats think horses, not zebras. Most people don’t want to be the person who suggests it might be a zebra this time. But we’re still here. The few doctors I have met who had a genuine curiosity about my symptoms and asked me questions that no doctor had seemed interested in the answer to before, were extremely refreshing to talk to. Medicine is supposed to involve lifelong learning, but it is difficult to learn when there is little you are curious to know. Future doctors should never be afraid to be curious or to ask a question, even if you think that as a doctor you should already know the answer. I would always prefer for someone to ask me a question and open a channel of communication where we can learn from each other, rather than make assumptions or dismiss me because they don’t feel comfortable asking.

Communication with patients is an essential part of being a doctor and the ability to communicate with different types of people is something that is taught to all students. Equally as important is communication with fellow doctors and healthcare professionals. A common problem that I and many others with rare diseases face is difficulty connecting seemingly unrelated symptoms. This can mean it takes longer to diagnose what is actually wrong with the patient, especially when there is lack of communication between doctors and departments. As an example, I experienced symptoms that required me to be seen by different specialties, including rheumatology, cardiology and gastroenterology, as well as making visits to the emergency department. Some doctors are very communicative and ensure all the relevant people are kept up to date, but others are not. The mentality that a patient’s symptoms do not fit within that doctor’s specialty and therefore they should be sent to another department without those symptoms even being acknowledged by the current doctor is not productive. Of course a patient should be seen by the relevant specialties to receive the best care possible, but it will benefit patients greatly if clinicians take a more holistic approach, looking at all of the patient’s symptoms as well as showing willingness to communicate with doctors in other departments to be able to understand the treatments or investigations a patient may need for other symptoms so they can have the best outcome possible.

Undoubtedly all young doctors leave medical school with the aim of providing the best care possible to their patients. However, limited resources and time mean it can sometimes feel impossible to do everything you would want to for each patient. Learning the importance of determination, open mindedness, curiosity and communication will not only be beneficial to the doctor but greatly improve the experience of the patient, as shown by my experience and those of many others.

 

References

  1. Ehlers – Danlos Support UK. Types of EDS. Available from: https://www.ehlers-danlos.org/what-is-eds/information-on-eds/types-of-eds/ [Accessed 1st November 2018].

 

  1. Global Genes. RARE Diseases: Facts and Statistics. Available from: https://globalgenes.org/rare-diseases-facts-statistics/ [Accessed 1st November 2018].