Rare Disease Day 2016

Today is the day when patients of rare diseases are trying to be heard. Remember the bucket challenge? Many people who never heard of ALS became aware of it. I knew about it since a family friend had it and I could see the impact of that disease. I also know a lot of people who are struggling with getting proper meds due to insurance limitations or FDA limitations. It is something that is important to recognize.

What is a rare disease? (from rarediseaseday.org)

A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. 

A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time. 

One rare disease may affect only a handful of patients in the EU (European Union), and another touch as many as 245,000. In the EU, as many as 30 million people alone may be affected by one of over 6000 rare diseases existing.

• 80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.

• 50% of rare diseases touch children.

What is so important is that these diseases need to be more in the minds of the doctors, especially when the patient just doesn't fit the textbook in what they expect to see. In fact, a doctor once said that "...when you hear hooves expect horses, but don't discount the zebras". That is why you may come across the zebra as a representation of the disease. So many people get misdiagnosed or diagnose with it being a psychological problem because the doctor does not want to investigate further and refuses to see the zebra amongst the horses. A correct diagnosis is key to helping a patient either get better or at least feel better. Not all rare diseases are fatal, but all affect the quality of life in a person.

Rare Disease Day website probably puts it better:

The lack of scientific knowledge and quality information on the disease often results in a delay in diagnosis. Also the need for appropriate quality health care engenders inequlities and difficulties in access to treatment and care. This often results in heavy social and financial burdens on patients. 

As mentioned, due to the broad diversity of disorders and relatively common symptoms which can hide underlying rare diseases, initial misdiagnosis is common. In addition symptoms differ not only from disease to disease, but also from patient to patient suffering from the same disease.

How you can help? 

Not all rare diseases are invisible, but quite a few are... and those illnesses that aren't rare, this still applies.

Just become aware of the prevalence of the disorders. Personally, I would say that just listening or at lest not denying the person has a problem. Many of these are invisible so even if someone looks "good" they may be feeling terrible. I know that I can deal with a pain level of 6 with a smile... so you never know someone's internal struggle. Don't try to cure them. If they are going to doctors (yes, often plural) then they are well aware of their condition. A cure that your friend's brother's in-law's cousin twice removed had the same thing but is cured... good for them, but it may not be the cure for the person with the rare illness or really any condition. Often those with the same diagnosis do not have the same symptoms or the same medical regimen. Also, recognize that they may have to cancel plans in short notice because they had a flare up. They want to be there, but just can't. Don't take it personally. If you would like to have some idea of what it is like to have an invisible chronic condition read The Spoon Theory. She writes about Lupus, but it works for all kinds of conditions. If you have any kind of a chronic condition that affects how you live, I urge you to read it, it resonates with so many people.

Also know this: if you think about it, with all the rare diseases out there, you probably know someone with it. In fact, I can guarantee it. ;)

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