Signs and symptoms in adults

[scruffycat]

Is a rare disorder rare, because it doesn't happen often, or, isn't diagnosed often? Is there a difference? Which came first...................

[auntiesally]

who knows? I think because it takes so long to diagnose

[wobblybee]

The European Union defines a disease or condition as rare if it affects fewer than 1 in 2,000 (1) people within the general population. Currently, there are over 6,000 (2) known rare diseases and new conditions are being described through medical literature on a regular basis.

1 in 17 people* will be affected by a rare disease at some point in their lives. This amounts to 3.5 million people in the UK* and 30 million people across Europe (1).

The majority of rare diseases currently have no effective treatment (1).

8 out of 10 rare diseases 3 have a genetic cause and 99% of genetic conditions are classed as rare (4). Often rare diseases are chronic and life-threatening. Rare diseases can be single gene, multifactorial, chromosomal or non-genetic.

On average, it takes over four years (5) to receive an accurate diagnosis of a rare disease.

Rare diseases include rare cancers such as childhood cancers and some other well known conditions, such as cystic fibrosis and Huntington’s disease.

If you would like more information on specific rare diseases, please visit Orphanet, the portal for rare diseases and orphan drugs, or check out the supporters of the Rare Disease UK campaign for relevant patient organisations.

Copied from raredisease.org.uk

[majajefferies]

What I find intriguing is the patient numbers!

As there is no registry or a reporting system on any of these diseases how can they adequately quantify the number of patients?

When our son was diagnosed with DRPLA (an “ultra rare” disease) I asked the head of GOSH Neurology who will now know that he has this illness and where will it be recorded. Nobody outside that room, was the answer...

[scruffycat]

Ah, I See lots of room for errors to creep in here. Are we - England, still in the EU? And, most of us would laugh at1 in 2000, what if it was more like 1 in 200,000 now, what would it been fifty years ago? How many doctors would shout.