As I closed the door to signify my final day in the NHS and clinical practice today it allows me to reflect on my career. I recall how medicine have changed for the good and how hope is now available for most patients but also much is still to be done especially for those affected by ultra-rare disease.
I recall that we diagnosed patients mostly clinical from history, examination and a few primitive tests and it didn’t really matter to know the exact diagnosis as we knew that patients with these disorders all die at a young age. Our message to parents were that the road is short and make the most of the journey and we will make the end as dignified as possible. Due to this attitude we never collected natural history data as why would it be important. We failed to do routine testing as what is the point of doing sequential neurocognitive testingfor a progressive disorder without therapy. But we focused on the patient and family needs and we were very good at breaking bad news and supportive palliative care.
There was limited need to screen for some disorders as there were neither specific and sensitive diagnostics or potential therapies. One of the “successes” was Phenylketonuria or PKU as here we had a good screening test and learned that dietary modifications ensure a good outcome. As it was a “success” again we failed to collect enough and correct data and moved on to the next disorder as we solved this one only for this to potentially haunt us in the future as we still have no newborn screened patient that has survived from birth to normal age of survival of around 80 years in the developed world.
Although we have made great advances in the developed world for those with a rare disease in the developing world the future is very bleak. How do you justify care for rare disease when large parts of the population are dying from infectious disease and poverty? But someone have to stand up for them unless we believe that a society without rare disorders is the most acceptable or is that where our responsibility come in to do the little we can?
Someone once said that a fool is someone that doesn’t learn from the past and it seems to me we have still not learned that lesson. Here are my views for the future:
- You only diagnosewhat you look for unless you use next generation genetic screening. We need to ensure greater awareness and education around management of rare disorders as you will either find them because you have knowledge and are looking for them or they will find you as someone will report that it was found on a screen test. We need better diagnostics and supportive tests to explain the difference between disease and variance of normality. But we must also get diagnostics to low income countries as a diagnosis is the entry to options for patients with the most important
- We need to collect more dataon patients but maybe this is best driven by allowing patients to teach us which data collection points are important to them. Maybe this data should be patient held and allow them to decide how it is used or even sold for their own benefit. This is a very controversial topic especially in light of the current data breeches, but we mustn’t allow these failures to limit the possibilities for our patients. Patients’ needs to be educated on how to collect their own data and how technologycan potentially assist them. Phone applications and activity trackers have their limitations but that is also true for medicine and we need to learn to work within our limitations rather than ignore them. It will also allow patients to tailor potential treatment outcomes around their own personal goals and make management more patient directed.
- We need to learn to collaborate more and share experiences and start collecting similar information irrespective of our focus. There is too much duplication of efforts which represents some wastage and some alignment of activities will become more important in the future. Diversity and different ideas are important but trying to align them with more main stream ideas will be important. A full set of data on a poor test over a wide population is just as useful as a few data point of the perfect test. Learn to work with imperfection. Quality of life toolsare a great example here as very few tools will have been validated for rare disorders and due to heterogeneity of the disorders it is impossible to construct the perfect Gaussian curve and predict the outliers. So maybe the future is to link these tools to activity or abilities. What does this treatment allow me to do that I wasn’t able to do before?
- Biasis the death of all rare disease arguments but if you search the term in a search engine this is the description: “inclination or prejudice for or against one person or group, especially in a way considered to be unfair or unreasoned”. It is impossible to have no bias as we all bring bias to any argument, but it is important for this bias to be open and disclosed otherwise we will never move on. I am biased to make the best treatment options available to my patient irrespective of my own personal feelings, beliefs or values of society even it that is to the detriment of another group of people. It doesn’t mean that I am insensitive but purely I focus on my area of expertise and advocacy. Patients are biased towards treatment and improving quality of life, so perceptions of improvement is inherent and that is part of the placebo effect. Regulators are biased towards safety and will always support the safety of patients above all other outcomes. Health care funders needs to divide limited resources between multiple needs and by default their bias will be towards common easily treated disorders or as we call it the low hanging fruit. Biotech companies are biased toward finance as without finance there is no new funds to move new advances forward and unless there is gain there will be no investors. Unbiased governments are not known for their contributions to high risk science programs, so we need to learn to work with bias collaboratively.
- Terminologywe need to try and use the same terminology where possible as we are creating a lot of confusion for those not familiar with our field of expertise. Let start with one of my pet hates i.e. attenuated disease. The word attenuate comes from the Latin “attenuates” which means to reduce or thin and from there the use of vaccines as being attenuated viruses i.e. reduced effect on the body. However, when we talk about attenuated Mucopolysaccharidosis it is easy to see why non-experts can interpret this as reduced disease or smaller impact but if I had my hip replaced by the age of 20 that clearly is not reduced disease. It only means the disease doesn’t follow the classical descriptions and as we are rapidly learning these groups are larger in adult age groups and more frequently mismanaged as the impact on their lives are minimized. Let’s get the patients to develop the correct terms that captures this best but also try to be consistent in publications.
These simple thoughts reminded me how much work there is still to be done and why life is like driving a car. You need to focus on the road ahead most of the time but keeping an eye on the rear-view mirror and occasionally looking back will serve you well to make less mistakes. Using technology like satellite navigation will get you to your destination most of the time but sometimes along the busier or longer road but it all depend on the information you supply to the device.