So it’s been an odd year but I can’t let rare disease day go by without a post.

There are over 300 million people living with one or more of over 6,000 identified rare diseases around the world, each supported by family, friends and a team of carers that make up the rare disease community.

Rare diseases currently affect 3.5% – 5.9% of the worldwide population.

72% of rare diseases are genetic whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.

70% of those genetic rare diseases start in childhood.

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 inequalities 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.

A disease defined as rare in Europe when it affects fewer than 1 in 2,000 people.

So not all my conditions are rare:
Crohns – affects 1 in 650
Arthritis – so it’s never been fully decided which type I have but it is suspected it’s Psoriatic Arthritis – 0.6% of the UK population.

The “HowRare” Ones:
Primary Immune Dysregulation Disorder – unknown/
Ataxia Pancytopaenia – about 25 people worldwide reported in literature but incidence is increasing very slightly.
Myeloid Dysplasia Syndrome – About 4 per 100,000

All these conditions combined together result in an incidence that is non existent. So as far as we know I am the ONLY one in the entire world with this combination of conditions.

So for myself and others I support RDD