Help create a national register for people with rare rheumatic diseases

[Paul_Howard]

Hi everyone,

I am sharing this information with you all on behalf of the Rare Auotimmune Rheumatic Diseases Alliance (RAIRDA) - rairda.org/

A key commitment of the UK’s Strategy for Rare Diseases is to create national registries. Better data will help us to find out how many people have each rare disease, how they are diagnosed, and how and where they are treated. This will give better information to people living with rare diseases, their doctors, and the commissioners of health services. It will mean that more people with rare diseases can be involved in research, and this will result in the development of new and better treatments. The aim of this research is to improve health for people with rare diseases.

Dr Fiona Pearce is working with the National Congenital Anomaly and Rare Disease Registration Service, which is part of Public Health England. They are starting to collect data on rare diseases. The work she is doing means that they can prioritise rare rheumatic diseases (such as lupus, vasculitis, myositis, Sjögren’s syndrome, scleroderma and Behҫet’s disease). We need to do research on the best ways to find and register people with rare diseases. Can you help us find a way to do this effectively and efficiently?

If you would like to give your views, and help shape or champion research on the best ways to do this please contact:

[e-mail], Dr Fiona Pearce, Clinical Lecturer, University of Nottingham

More information on the data collected by the NCARDRS, how it is used and your right to opt out of the register if you wish is available at gov.uk/guidance/the-nationa....

[MEW53]

I think this is a great idea keeping a database of rare diseases. Nearly 20 years ago while working for a clinical research organisation doing work on clinical trials there was a study where data was collected about family members who had illnesses/ diseases. I don’t know what the outcome was but it was seen as a great idea at the time.

Databases like this can build up patterns to see if diseases overlap or are related. Building up a good picture like this is a great idea and helps with valuable research.

I thought that clinicians had to provide data already on patients that have rare diseases when they are diagnosed.

[Cal66]

Very pleased, if there was a list it would help Consultants to diagnose other patients with the same symptoms.

[happytulip]

Brilliant idea. I'd say you could probably sign two thirds of my genetically weird family up, and if they won't agree I won't get them a Christmas present.

Seriously through, brilliant idea. Anything to raise the profile. Just because its not in the text book doesn't mean it doesn't exist.

[Lupiknits]

It’s a very good idea. The only snag I can think of is that some of us have “a bit of this” and “a bit of that”, so they might be excluded entirely or counted more than once.

[Hidden]

Great idea Paul. My main question is about how one defines rare when specialist testing for some is becoming increasingly inaccessible - particularly to those in the devolved regions? So these people may very well get misdiagnosed with functional disorders such as ME, Fibromyalgia or FND instead?

Also, bearing this in mind, Sjögren’s, Myositis, Vasculitis and EDS - and of course Lupus - are described as very under diagnosed on most reputable online resources eg Versus etc -then by default they only become rare rheumatic diseases because they are so rarely diagnosed. Especially if sufferers are seronegative. Sjögren’s is also described on most sites as one of the most common autoimmune diseases - so which category is right - orphan or common?

So how do we resolve this disparity between the genuine rare rheumatic disease and the rarely diagnosed rheumatic disease? My suggestion would be to start by including seronegative sufferers in research and all RRD databanks - ie those diagnosed by +lip biopsy or skin or kidney biopsy rather than only by bloods.

[Paul_Howard Partner LUPUS UK in reply to Hidden]

Hi Hidden . Thank you for your response. Defining what counts as a rare disease can be difficult and often the answer depends on who you ask. Generally a disease is considered to be rare when it is affects 1 in 2,000 or fewer within the population. I believe a large part of the reason for this register is to help more accurately indicate the number of people living with these conditions which could prove whether they are rare or not in the first place. Some studies have suggested that SLE affects around 1 in 2,500 - 1 in 3,500 adults (which would make it a rare condition) whilst others have suggested around 1 in 1,000 people in the UK could have a diagnosis (which would mean it isn't a 'rare' condition). This doesn't include the many people who are undiagnosed or misdiagnosed that you mention.

Identifying the true prevalence of these diseases (including those who are currently undiagnosed) is a monumental task and will most likely require further improvements in awareness and disease screening for diagnosis. Projects like this however will hopefully allow us to see how many people are living with these conditions in the UK at a given time, rather than relying on rough estimates.

[fabwheelie]

This is a great idea, could perhaps Lupus UK members be asked if they are willing for their details, diagnosis etc to be passed on, be a way that at least some "numbers of people affected" are registered fairly simply

[Paul_Howard Partner LUPUS UK in reply to fabwheelie]

I'm not certain how this register would work, but they do exist for other diseases already so I am sure there are good working models that can be adapted.