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When someone is diagnosed with a rare genetic condition, they often find that there is not much information about what their diagnosis means. Patients often want information about how the condition will affect them in the future, what treatments are available and what information there is about living with and managing their symptoms. This can be hard to find when there are so few people diagnosed with a condition, as there is much less research being done. On this page we talk about the places that you can look to find information and how to tell what a good source of information is.
The resources detailed in this section should be used alongside appointments with your medical professional.
Your first point of call when looking for condition specific information should be a patient group. Many of these will have medical information about the condition, advice on living with your symptoms and may be in contact with the leading medical professionals within the specific disease area in the UK. If you still can’t find the information that you are looking for there are other places that you can search. Here are some of the ones we use:
Orphanet is an online portal that provides information on individual conditions. The summaries about conditions are based on published scientific articles. As mentioned above, Orphanet can also be useful in identifying other names used for the condition – this may be helpful to you when looking for support.
PubMed contains citations from a range of different sources of medical literature. It links to journal articles, books etc about conditions as well as other aspects of biomedical research and health.
When trying to find information on a really rare condition it may be helpful to find a specialist in the condition. Experts often write articles for journals about conditions, detailing cases they have seen, ways they have treated symptoms, etc. You may want to look for authors of papers on the condition – as they may well be the expert on the condition. PubMed does also provide email addresses of lead authors where they are available.
Learn how to search PubMed here.
NORD’s Rare Disease Database provides brief introductions to over 1000 rare condition. This is written in a way that is much more accessible than looking at academic articles or summaries meant for clinicians. The summaries are put together with the help of medical experts.
When an individual has been diagnosed (or is the parent of someone who has been diagnosed) with a rare condition, they often search for information themselves. Whilst this isn’t necessarily a bad thing, the internet is a resource that is generally unchecked. We have some tips on how you might know that the information that you find is reliable.
The information standard is a program set up by NHS England to regulate health and care information. If an organisation is displaying the IS logo (like the one at the bottom of this page) you know that you can trust the information.
Organisations displaying the IS logo have undergone a rigorous assessment that the information they produce is clear, accurate, impartial, evidence-based and up-to-date. The aim of the information standard is to help patients and families gain a greater understanding of their condition and the options available to them.
Peer review is a system for assessing the quality of research. When a piece of research is peer reviewed it is looked at by other experts in the field to check that the research is valid. This system stops research that is not replicable, or made up, from being used to understand or treat a condition.
When you are looking for information about your condition and how to treat it, you should always ask yourself 'has this been peer reviewed?' and if not 'why not?'.
For more information about peer-review take a look at Sense About Science’s leaflet 'I don’t know what to believe'.