What classifies a disease as rare?

Having recently had International Rare Disease Day on February 28th, I thought it fitting to make the first Zebra Blends blog post, about exactly that. Rare disease, and what exactly it takes for a disease or condition to be classified as such. 

It is estimated that approximately 2 million Australians currently live with a rare disease. Wow! Just wow. With the population of Australia estimated by the Australian Bureau of Statistics (ABS) population clock to be 25,628,322 as of the 11th March 2020. 2 million is roughly about 7.8% of the population. 

That means rare disease is something nearly 10% of the population experience. Imagine how many people that means are in turn, directly affected by rare disease - i.e: within their immediate family units. It’s A LOT.

It doesn’t actually seem so RARE, when looked at in this light. Of course this is the total of all rare diseases, it's not broken down to the individual disease level, which of course, can be much less. 

Take Ehlers-danlos syndrome (EDS) for example. There are thirteen subtypes of EDS and the incidence ranges from 1 in 2,500 people to 1 in 5,000 people depending on the subtype. Where as a condition a littler rarer again, called Angelman Syndrome has an incidence of about 1 in 15,000 people. 

The general consensus of what makes a rare disease, rare, is a condition which affects less than 0.05% of the population or 5 in 10,000 people. Then you have extremes like Opitz trigonocephaly with an incidence of 1 in 1,000,000.

An unfortunate aspect of rare disease, is that often the myriad of symptoms experienced are so complex that diagnosis isn’t always readily determined and it can take many years for patients to seek out appropriately qualified (interested) doctors to obtain an accurate diagnosis. 

Speeding up the time to diagnosis is imperative for people suffering from rare disease, so timely treatment and / or management plans can be developed and enacted. 

If you would like more information on rare diseases, below is a list of a few optimal places to start: -

Rare Voices Australia - www.rarevoices.org.au

The Ehlers-Danlos Society - www.ehlers-danlos.com

Both of the above listed organisations are charities which Zebra Blends chooses to support via donation of a total of 50% of all profits to these causes.

So, until next time. 

Janna ZBs x

**Please feel free to fire away below with any comments or questions. 


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