28th February is Rare Disease Day

Submitted by GAtherton on 28 February 2017

Happy Rare Disease Day!

Aspergillosis is a rare disease with all of the limitations that that places on the amount of awarenesss, patient support and research funding. There are many diseases classified as rare, many of which are known to have a genetic cause but there are many more where a genetic cause isn’t identified or isn’t clear and aspergillosis is one of those.

A rare disease is defined as one that affects less than 5 in 10,000 of the general population and there are about 6-8,000 known rare diseases with five more being described every week. 1 in 17 of us will be affected by a rare disese at some time in our lives.

In the UK (63 million people) a maximum of 30,000 might be affected by a rare disease but it can be much less. Chronic Pulmonary Aspergillosis (CPA) is thought to affect 3,600 people in the UK, invasive aspergillosis (IA) 3-4,000. Genetic factors that contribute to aspergillosis are gradually emerging but it is known that medical interventions that immunocompromise patients is a major risk factor for IA. These forms of aspergillosis are thus very rare and suffer from lack of awareness, difficulties of diagnosis and treatment partly because of the much lower amount of funding that goes into rare illnesses compared with diseases that afflict millions of people.

Rare Disease Day highlights those issues for all rare diseases and the work of Rare Disease UK plays an important part in providing a united voice from all rare diseases – otherwise those tiny voices would continue to go unheard..