Diagnosis: Unknown

I always used to wonder why it is so hard for some patients to get a proper diagnosis. I reasoned that when a patient is seriously ill, doctors will continue to look for an answer until they find the cause. Someone must know the disease, which means it is just a matter of referring to the right person, right? Gradually, I came to find out that medicine does not work this way. This is unfortunate because a lot of rare diseases are only diagnosed after many years, if they are ever diagnosed. So why is it so hard to effectively diagnose patients? After seven months of health care experience, I came across two main causes for this problem.

Medicine is a field of fast, ongoing progress. This is positive as survival rates for diseases go up and the number of undiagnosed patients goes down. But ongoing progress also means that medical professionals no not have all the answers. Diseases are complex and often have many manifestations. It is unreasonable to expect to make a diagnosis every time because currently, we can’t distinguish between certain ailments yet. It will take decades to be able to pinpoint some diseases, especially mental disorders, which can mimic physical disease.

Another aspect of diagnosis that can be overlooked by patients and family is the difference between theory and practice. In theory it is possible to monitor a patient closely and be on top of any changes until there is nothing new to discover. In practice this approach is undesirable (a lot of time investment on the patient’s part) and unmanageable (far too expensive). In practice, nurses and doctors have a large workload which limits their diagnostic abilities. They are human and hence can be sleep-deprived or having a bad day (or both). 

These factors add up to a frustrating situation for the patient with a rare disease. They ‘win’ the lottery twice: not only do they get sick, but the process of getting diagnosed is often long and complicated. One thing to speed up this process would be research. Research is crucial to gain knowledge and develop diagnostic tests. Money is necessary to conduct research. That’s why attention for rare diseases is good. Not only will attention and explanation help with much-needed empathy towards patients, but it also raises money. 

29 February. Rare Disease Day 2012. Spread the word. Get involved.