We are perhaps all too aware of the impact that having a rare disease can have on the individual but how many of us have considered the complexity involved in treating and operating on someone with a rare or undiagnosed condition. As part of the Rare Beauty project we met Anthony Lander a paediatric surgeon at Birmingham Children’s hospital and asked him how rare diseases affect him as a surgeon and if it influences the choices he makes in theatre.
“We find that rare diseases can cause a number of challenges. The first might be that the individual with a rare disease is often the expert in their condition, whereas, the medical professional that they deal with may not have that in depth knowledge of that specific condition. This means there can be a disconnect between expectations of how the medical team are anticipating the natural history and behaviour of the patient which can be different from what the child or the family know is going to be the behaviour of the problem. Another important thing is that if you have a common condition you will have family and friends who have some experience or understanding of it, maybe it was diabetes or asthma, it is very common that people will have family or friends who know something about it and can understand what it might mean for you. In contrast when you have got a rare disease, your family and friends and the people you come across, have no idea what it is. No idea whether it is serious or dangerous, whether it has a big impact or a small impact or the nature of that impact.
The difficulty for us as surgeons is we don’t know how the system is going to behave when the patient has a rare condition. I do a lot of surgery on the intestines and normally I can expect the bowel to behave in a certain way, because of the disease that is involved, or in the recovery after an operation. In some rare circumstances the system behaves quite differently to what we expect and that makes my job difficult because I have to try to follow what is happening to the patient and try to second guess what is going to happen. I may well not be able to predict the way the system is going to behave and it is important that everyone involved is aware of this uncertainty. I have to take the parents and that child along that journey with me, so they understand where I have got confident expectations of performance and where I don’t know how things are going to behave in relation to either surgery or medications that are given.”
Whilst exploring the complexity that rare diseases present in surgery I asked Dr Lander how he coped with the expectation that as a surgeon he should know what is going to happen during surgery, especially as the parents have to put so much faith in his treatment plan.
“Mostly, with conditions that fall into this category, the parents have been on a journey and they are very aware that there are no simple solutions. By the time they often come to us or by the time things have come to light, it is evident that things aren’t behaving as normal. The parents, as it is mostly children that we are dealing with, have usually developed great skills in handling the nursing and medical staff and we work very much as a team. What they face must be an incredible challenge that we in the profession can’t really appreciate. We do not know what it is like to be the other side, to be a parent or patient, with one of these unusual or difficult challenging conditions.”
The Rare Beauty project has been designed to encourage people to want to know more about what is happening in the images. We have introduced beauty into every day scenes that people with rare diseases find themselves and through these images we will tell the story of the people, their families, friends and hospital staff involved in their care. We are grateful to BBC Children in Need for their support and to Birmingham Children's Hospital for their assistance.