How I earned my Zebra stripes…
and the difficulty in diagnosing rare diseases

The metaphor “When you hear hoof beats think of horses – not zebras” can be used to explain the way rare diseases like Gitelman Syndrome are diagnosed.

This phrase is commonly used in medicine. Medical students are taught to assume that normally the simplest explanation is usually the best, so that they look for a common illness which explains their symptoms rather than diagnosing them with all sorts of exotic illnesses which are less likely. Common conditions are the horses in this metaphor. If you were to hear hoof beats, you would automatically think of horses. However, doctors will come across patients who suffer from rarer conditions, which are the zebras in the metaphor. Doctors will often forget to suspect that the patient has a rarer condition, always looking for that simple answer. They forget to suspect that the hoof beats might actually be coming from, in our case, a zebra.

But I understand why doctors use this approach, as it is logical and effective if a patient has a common condition (and also cost effective ). But often the diagnosis of a rare condition requires a different approach. This has been experienced in the diagnosis of Gitelman Syndrome.

The National Organization for Rare Disorders has stated that it estimates that it takes an average of 9 years for a rare disease patient to get an accurate diagnosis.
This means that many patients, partners, carers, and physicians are online searching for answers, using search engines and forums. But, if you’ve ever tried looking online though search engines like Google, Yahoo or Bing for rare disease symptoms and information about Gitelman Syndrome, as I have, then you will know that, in the past, this is not always effective.
This is why the website has really been created; due to the lack of information when I was diagnosed, and the confusion I felt after years and years of feeling ill and not knowing why. I cannot stress the importance which having a ‘label’ and proper diagnosis brings-it brings hope.

I cannot change the way our medical professionals are trained and, in fact, the way they are trained is most often correct and appropriate.
But the problem arises when when physicians doubt whether a ‘zebra’ actually exists (rare diseases). This, combined with the trial of having to go though accusations of mental illness (depression), drug abuse (Thiazides) and even eating disorders (like bulimia), for me, personally, was a real struggle.

Awareness and information is key to understanding rare diseases like Gitelman Syndrome. Just a small light bulb going off in the mind of the medical professional will, in turn, lead to better treatment in emergency cases and ongoing care.

I earned my zebra stripes, as many, many others do, the hard way. I did this by trying to inform myself of new ideas, literature, and concepts. I tried diet and lifestyle changes and asking questions. Even, if as I found in most cases, the doctors didn’t have any ideas, I showed willingness to learn.
I have experienced ignorance, as well as malpractice and poor care, but overall, in most cases, the doctors have provided adequate care.

But if another doctor asks if I like bananas I will loose the plot! I actually worked out the potassium needed (in milligrams) and it equated to eating 40 bananas a day, just to get anywhere near the levels I need. That’s not something my digestive system can handle.

I hope, in the future, with the wonderful work of some very special doctors, nurses, consultants, and professors, and having access to amazing centres of excellence (like Addenbrookes, Royal Free London, Birmingham, and Newcastle Hospitals) and genetic testing and the Cambridge research Genome project, that we can have the awareness and technology to improve the diagnosis of Gitelman Syndrome.

Posted 22nd April 2015