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Rare Disease Challenges: Three Consequences of Being Rare


What does it mean to be rare? For some people, it can mean standing out in a crowd. For others, it may mean standing against convention. But with a medical zebra diagnosis, being rare often means that you may feel there are only a small number of people who understand what it’s like to be unique like you.


While it is certainly true that being a medical zebra means only a small percentage of the population shares your diagnosis, you may be surprised about the number of people who share medical experiences with you. There are roughly 7,000 rare diseases. In the United States, these affect a combined 30 million people.


That amounts to roughly one out of every 10 Americans. The reality is that we tend to view rare diseases as very individualized and specific; however, they actually share a lot of common issues ranging from difficulty diagnosing to a lack of treatments and limited research.


Problems with Diagnosis


Rare diseases truly span the medical spectrum. As most people know, symptoms of a rare disease are often quite similar to those of more common conditions. Additionally, many physicians and specialists you see may not have encountered specific rare conditions or have limited knowledge about them. Conditions like Alice In Wonderland Syndrome are known only be a few specialists. As a result, diagnosis can be frustrating and time consuming.


The average diagnosis for a medical zebra takes 4.8 years including 7.3 doctors. Many of us can empathize with this experience – the frustration and not knowing combined with the eventual relief of having an answer. With 7,000 different rare diseases, some without specific diagnosis criteria, it is understandable that diagnosis is time consuming. But knowing that many people – even those with other conditions – can empathize with our experience has an air of positivity to it.


Problems with Treatment


As many of us know, delays in diagnosis mean delays in treatment. Our conditions can accelerate before interventions can be attempted if there are interventions at all. Only 4% of rare diseases have FDA-approved treatments. Having a condition without a treatment or without an accessible one is an experience many of us understand.


The development of a drug can take decades and millions of dollars. Of course, there is also an economic incentive as there is more interest in developing drugs that can be used for more widespread conditions. An orphan drug is one designed to treat conditions so rare that it would not be produced without government assistance. There are currently 32 orphan drugs, but the average annual cost for one-third is over $100,000. If you’ve ever felt disillusioned by your treatment options, there are many of us that can commiserate.


Problems with Research


Research is absolutely critical for improving understanding, diagnosis, and treatment for rare diseases. However, this has its own problems. First, it can be very difficult to secure funding for studies or even find clinicians interested in researching a specific condition. We also don’t understand the natural history of rare diseases.


Finding people to study is also problematic. It is difficult and expensive to find a large enough group to study. However, medical trials typically require fairly sizable groups to provide information on effectiveness of treatments. Of course, participating in a trial or study can be hard on patients who can end up dealing with stress, anxiety, fatigue, and traveling long distances.


Final Thoughts


Being a medical zebra can often make someone feel invisible. In the early stages, people may not believe you – and you may not even believe yourself. However, while your individual disease may be rare, your overall experience is more common than you’d think. There are many of us with rare diseases who go through similar things. And we are here to listen, empathize, and help. Ultimately, the consequences of being rare aren’t as rare as you would assume.