This week’s blog features one of the fantastic entries we received for our 2018 Student Voice essay competition. Here, Zainab Ganiyu-Dada from Barts and the London School of Medicine and Dentistry discusses the importance empathy and understanding in clinicians’ treatment of people with rare conditions. She talks with Nicola, one of the founders of the Teddington Trust and parent of a child with xeroderma pigmentosum, about ways in which future clinicians can offer support.

I thought I had a good understanding of what it meant to have a rare condition that puts a limit on a person’s day-to-day life. I thought five years of medical school and my masters in research had equipped me with the knowledge I needed to be an empathetic and responsive physician, I thought that snapshots in people’s lives allowed me to ‘understand their perspective’. In reality, I didn’t have as great insight into what it meant to live and breathe the actuality of having such a condition. I still don’t know completely what it’s like to live with a rare condition, a condition that affects every aspect of your life, a condition that ultimately defines a part of you. And that’s okay. What I do have now, is a better understanding of the things that I can do as a future clinician to support people with rare diseases.

I have been fortunate enough to meet a variety of different people during my training and I have learnt a lot along the way, but my most recent interaction with Nicola, one of the founders of the Teddington Trust, has opened my eyes to the journey of not only a patient with a rare condition, but also their family, from the moment of diagnosis to how they live their lives currently. Being able to speak in such an open manner and asked about how a diagnosis was reached, and how her son manages his condition, as well as how they as a family manage his condition and their thoughts for his future are questions that I may have been too shy or unable to ask prior to our conversation.

Understanding the effect that a diagnosis as rare as the Xeroderma pigmentosum can have on a family is important. It is important because a patient is never just their disease, they are just like everyone else with their own thoughts, desires, hopes and fears and longingness to belong and be understood. Understanding that patients may not be expecting this news is important. It is important because everybody responds differently even to the same information. I imagine how difficult it must have been for Nicola and her husband sitting in a room with their infant son, thinking the diagnosis would be common like an allergy and being told words like ‘it’s genetic’, ‘the air around them is unsafe’, ‘he needs to be shielded from all light’, and suddenly feeling like everything around you is no longer safe. I think about how challenging it was for them to get the right support for their child and to be told that disabled children support is unavailable because his condition is not physical or mental. I imagine how long the seven weeks to secure the house and make it safe must have felt, to not have the right equipment to keep their child safe and needing to borrow protective clothing from the clinic as their child was simply too small to fit what was currently available. I wonder how it felt to sit on Google and see image after image of children with more advanced symptoms and wonder if this was their child’s future. To suddenly realise that your whole life has changed, your plans have changed your outlook has changed, to think that the journey to this point of diagnosis could have been easier had you been listened to earlier. To set up a charity because you feel that more support should be given to people like you and your family and you want to be a part of those who give this support. But to then be able to, years down the line, look back and realise that you are a better parent for having a child with this condition. To see your son happy and content, to see him safe, to have the support of those around you and to feel that you can keep him safe. To appreciate the small things and see the joy in your child’s face when he sees and feels rain first time and to wake him up at night so he can experience the snow, and the cool air of winter at night and the warmth of a summers evening.

‘But as a clinician…’, some might say,’ you need to know what xeroderma pigmentosum is, you need to know how to treat it, you need to know how to spot it…’. And yes, this is true I do need to know that it is an autosomal recessive disorder that causes a reduced ability to repair DNA damage caused by ultraviolet light. I do need to know that it is diagnosed in early childhood and that most children by this point will present with freckles (pigmentation) and that they have an increased risk of developing cancer and without adequate protection and that half of these children will have this by age 10. And that about a quarter of them may develop progressive neurological abnormalities and that there are eight types of xeroderma pigmentosum. And true, it is important to know that it affects around one in 1 million people in Europe and so is considered rare. And of course, also knowing that complete protection from sunlight is crucial [1,2]. But what is also important is understanding how to support patients and their families and know about organisations like the Teddington Trust and how important this is for patients in helping them cope with a diagnosis like this.

A rare disease, regardless of its symptoms can often be challenging to deal with as help may not always be easily available and treatments may be limited. An understanding of the disease or awareness of its existence may not be widespread in the medical and pharmaceutical communities, which may mean that patients are often left to advocate for themselves as support is simply not widely available in a way that suits their needs. An important part of understanding a rare condition, is being able to understanding what this means to the patient and not just what you think it means. As a future clinician I feel it is my duty to be aware of the challenges faced by people with rare conditions and also have the confidence to advocate for these patients, be that through research or my clinical practice. Empathy and understanding is important as a condition may
seem restrictive to you as a clinician but to the patient it is just part of their life, they have found a way to cope, they have reached a level of acceptance and they may have embraced this as a part of them, and to quote Eddison, Nicola’s son, in a conversation with his little brother ‘I wouldn’t want you to cure it, because it makes me me’.

References
1. Rarediseases.info.nih.gov. (2018). Xeroderma pigmentosum | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. [online] Available at: https://rarediseases.info.nih.gov/diseases/7910/xeroderma-pigmentosum [Accessed 11 Nov. 2018].
2. Reference, G. (2018). Xeroderma pigmentosum. [online] Genetics Home Reference. Available at: https://ghr.nlm.nih.gov/condition/xeroderma-pigmentosum [Accessed 11 Nov. 2018].