Patients tell us that one of the hardest things about having a rare condition is that often their doctor may not have much information about the condition.
Many patients want information about how the condition will affect them in the future, what treatments are available and information and support on how best to live with and manage their symptoms. This can be hard to find when there are so few people diagnosed with a condition.
This page discusses:
The resources detailed in this section should be used alongside appointments with your medical professional.
After speaking 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. Orphanet can also be useful in identifying other names used for the condition – which may be helpful to you when looking for support.
PubMed contains citations from a range of different sources of medical literature. It links to information about conditions in journal articles, books and other reliable sources.
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 conditions. 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 information standards logo (like the one at the bottom of this page) you know that you can trust the information.
Organisations displaying the information standards 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”.
We have over 2000 supporters including many condition specific support groups.
Our parent charity Genetic Alliance UK is an alliance of 180 patient organisations, many of which are condition specific UK charities and support groups who exist to support children, families and individuals. They are the experts in understanding their specific conditions and at providing the support that you need.
However, we don’t pretend to have an all encompassing list of patient organisations and so would recommend that you do a search outside of Genetic Alliance UK if you cannot find anything on our site. For example, it may be useful to you to search the name of your condition and the words “patient support UK” on Google.
Of course, not everyone will be able to find an organisation specifically for their condition. Some may be able to find ones that they fit into under an umbrella organisation that can support them.
Often conditions fall into wider categories of disease. For example, Danon disease is extremely rare and therefore does not have a condition specific support group for patients to find information and meet others with Danon disease. But, Danon disease is a metabolic condition, so people with Danon disease can access support and information from Climb, who deal with a wide range of metabolic conditions. If you want to know what type of categories your condition might fall under you will need to either find out more about the condition, or you can ask your doctor.
Others find themselves with nowhere to go. But that doesn’t mean that you can’t find support. The internet is home to a wealth of virtual areas for people to meet and talk about their experiences with rare disease.
As a free, informal platform Facebook is the perfect place to set up an online support group. You don’t need to have a Facebook account to search for groups – although if you do find a relevant group you will need to sign up to join and talk to people.
If there isn’t a Facebook group for your condition you can always set one up for the next person searching to find.
Making contact is an online forum set up by Contact a Family for parents of children with disabilities. Just enter your condition into the search function on the Making Contact website and you’ll be able to see how many people have registered under the disease name.
Don’t forget to register yourself, even if there isn’t anyone else registered, so that anyone who is newly diagnosed can find you.
RareConnect shows a real understanding of the problem with rare conditions: most people with a condition will live hundreds of miles apart, in different countries, and on different continents. RareConnect is another free online platform with disease specific communities and general discussion groups. The platform was set up by EURORDIS: an alliance of rare disease patients in Europe. Discussions are translated across six languages (English, French, German, Italian, Spanish, and Portuguese).
Don’t forget to leave a message if there aren’t already discussions going, for the next person to find.
Make sure you know all the names that people use for a condition - you can do this by going to orphanet and searching for your condition. When you have found the right page you should see that in the blue table there is a list of synonyms for the condition.
If you would like help setting up a support group for your condition, please see the page on Genetic Alliance UK's Helping Patients Project.