Saturday, 27 February 2016

Rare Disease Day: Intro

Monday is Rare Disease Day. What is rare disease day, you ask? You're about to find out (if you keep on reading). I'm turning it into a weekend because, turns out, I have much to say. When I was first informed about it (about a week ago), I thought it happened only on leap years but apparently it's the last day of February. It's just a coincidence that this year happens to be a leap year. I guess organizers don't want a day that only comes around once every 4 years...even though it would be perfect because it's a rare day. Anyway, let's move on to all the questions I'm sure you have.

What is rare disease day?

It's a day to bring awareness to the diseases that don't often get a voice. It was started in Europe and the main purpose is to "raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives. The campaign targets primarily the general public and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases." (All the italic information is stolen from

What is a rare disease and how many people have one?

It's hard to get exact numbers but "in Europe, a disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. In the USA, it's defined as rare when it affects fewer than 200,000 Americans at any given time." I'm not sure why the two regions need different classification systems or what Canada considers a 'rare disease' although according to Canadian Organization for Rare Disorders (CORD), 1 in 12 Canadians has a rare disorder, which seems like a lot.

According to, there are over 6000 diseases that are considered 'rare diseases' which vary "not only from disease to disease but also from patient to patient suffering from the same disease."

Every cause has a 'day', why do I care about rare diseases?

Other than because you're an awesome person? Rare diseases are terrible to have. They often go misdiagnosed or untreated because...they're rare so no one knows about them. Often the symptoms can present as other ailments and the medical professionals look to the most common causes first. This can lead to delayed treatment, if there is even treatment available. The lack of people with a disease often means limited research which means limited treatment options.

One of the major problems is even when treatment is available, it can often be expensive. As pharmacy companies don't put much research into medication that treats only a handful of people, when they do, the medication is often out of the price range for the average person. CORD advocates for a Expensive Drug for Rare Disorders policy (amongst other things) which would help many Canadians. I recognize there is always a balance and a fine line between how much the government should spend on medication to keep one person alive and how much it should invest in medication that would benefit more of the population. A debate that I'm not going to get into here.

Even with CF, even though it's not considered a rare disorder, in NB there is often a delay in getting medication as approval needs to go through several levels of doctors. That delay of a few days can cause further spread of infection in the lungs, leading to a longer recovery.

Another major issue about having a rare disease is the lack of understanding in the medical community. It's great once a person has a diagnosis but that doesn't help when going to a local emergency clinic when the one doctor on staff has no idea of what you are referring. No doctor can know about every disorder but general awareness could help improve the lives of many.

What's being done?

As the international community continues to grow and share information, progress in research is being made for the rare diseases. "The increase of international cooperation in the field of clinical and scientific research...(and) the sharing of scientific knowledge about all rare diseases, not only the most "recurrent" ones. These advances have led to the development of new diagnostic and therapeutic procedures. However, the road ahead is long with much progress to be made."

Organizations like CORD are helping push for better treatments as well as organizing people who have a rare disease together. The Internet has helped bring so many communities together of people who thought they were alone. It's not all cat videos and racists. 

There's your background on Rare Disease Day. Tomorrow is going to be a special guest blog from a parent with a child with a rare disease and a profile of a woman living with a rare cancer. On the 29th, I'll talk a bit about what it's like for me to have an equally rare cancer. Stay tuned!

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