Acknowledgements: This video clip has been produced by Animo Productions with pro bono support of Burson-Marsteller Brussels. The patients featured all live in Ireland. We thank them for their invaluable contribution. Our thanks also to Grégoire for permission to use “Toi et Moi” as the soundtrack to the video.
What is a Rare Disease?
In Europe, a disease or disorder is defined as rare (or orphan) when it affects less than 1 in 2,000 people. There are more than 6,000 known rare diseases. 80% of these are of genetic origin, are present throughout a person’s entire life, even if symptoms do not appear until adulthood, and are often chronic and life-threatening. One rare disease may affect only a handful of patients across Europe, while another may affect as many as 250,000 patients.
“Rare is not so rare – rare disease patients are many”
While an individual disease might be labelled as “rare”, the total number of persons in Europe suffering from one of the over 6,000 different identified rare diseases is estimated at over 30 million (6% to 8 % of the European population), which equates to more than 280,000 people in Ireland living with a rare disease.
Rare diseases are characterised by a wide diversity of symptoms and signs that vary not only from disease to disease but also from patient to patient suffering from the same disease. Relatively common symptoms can often hide underlying rare diseases, leading to misdiagnosis. Rare diseases not only affect the person diagnosed, they also impact families, friends, carers and society as a whole.
Most rare diseases have no cure, so living with a rare disease is an ongoing learning experience for patients and their families.
Information pertaining to each individual rare diseases is constantly being updated and evolving. However, searching the web can result in a large amount of often irrelevant or unqualified information. EURORDIS have developed a custom search engine to browse a selection of qualified websites.
Using the EURORDIS search function will provide results from the web pages of patient organisations who are members of EURORDIS as well as reference websites such as orpha.net and NIH
Find a Patient Organisation
There are many patient organisations across Ireland with a remit to focus on a single rare disease or a group of related rare diseases. These organisations all do excellent work providing support for patients and their families in a variety of ways, from supporting basic research to providing counselling and care services, and from lobbying for provision of services to providing a forum for affected patients and their families to educate and support one another.
If you are seeking support following a recent diagnosis we recommend that you contact the relevant organisation directly. In some circumstances a diagnosis may not have been made, in which case there are support mechanisms as detailed under Undiagnosed Rare Disease Patients.
Additionally with the advent of and ease of communication via social media, ad hoc groups have come together. While Rare Diseases Ireland cannot support or recommend any particular group we are happy to provide a list of such informal groups – please contact us if you would like your group to be included in this list.
Below is a list of patient organisations established in Ireland
If there is no patient organisation specific to your circumstances in Ireland you may also want to connect with others through RareConnect, an initiative of EURORDIS to build an online network of rare disease communities that brings together thousands of patients, families and groups who might otherwise be isolated. Through RareConnect, patients and those who care for them can communicate, sharing experiences and information in a safe, moderated online forum. It is an invaluable tool for sharing experiences and solutions to common problems based on the experiences of the wider rare disease community.
Undiagnosed Rare Disease Patients
Obtaining a diagnosis is a long and difficult journey; a scenario that is not unique to Ireland.
Rare Disease patients live for months and years (and in many cases their entire lives) with an undiagnosed condition. Living with an undiagnosed disease may be extremely challenging. A significant consequence of being undiagnosed revolves around the heartache and stress patients and their families’ experience, compounding feelings of isolation and exclusion that worsen with the chaotic journey through numerous referrals, investigations, and disease evolutions.
A diagnosis can serve as the key to unlocking access to effective medical and social care as well as to treatment. Getting the right and accurate diagnosis, even when there is no treatment, increases opportunities for patients to plan their future. It may provide access to clinical trials for new and innovative therapies and care pathways.
In situations where diseases are inherited, many families have several affected siblings. For these families, the absence of a diagnosis increases the risk and worry of having another child suffering from the same undiagnosed condition.
There are different groups of undiagnosed patients:
‘Not yet diagnosed’ refers to a patient whose disease has not been diagnosed because the patient has not been referred to the appropriate clinician due to common, misleading symptoms, or an unusual clinical presentation of a known rare condition.
‘Undiagnosed’ (Syndromes Without a Name or SWAN)’ refers to a disease for which a diagnostic test is not yet available; the disease has not been characterised and the cause is not yet identified. This patient can also be misdiagnosed as his/her condition can be mistaken for others. These conditions are also likely to be rare.
EURORDIS together with a number of other international groups jointly identified a list of recommendations to address the specific needs of patients without a diagnosis urging all stakeholders to recognise undiagnosed patients as a specific population within the rare disease community.
Undiagnosed rare disease patients require the availability of a complete health and social care pathway in advance of receiving a diagnosis. Such care should promote their chances of receiving an accurate diagnosis in as efficient and timely way as possible, while ensuring that, until a diagnosis is made, they nevertheless receive the best possible health and social care.
The following initiatives have been created to support the undiagnosed rare disease community:
SWAN Europe: Patient organisations unite to support the 65,000 children born with an undiagnosed genetic condition each year across Europe. SWAN Europe is a coalition of groups, organisations and support networks working with families and/or patients affected by syndromes without a name and/or undiagnosed genetic conditions.
Undiagnosed Disease Network International (UDNI) was formed to address unmet needs of undiagnosed patients at a global level
RareConnect is a safe, easy to use platform where rare disease patients, families and patient organizations develop online communities and conversations across continents and languages. RareConnect partners with the world’s leading rare disease patient groups to offer global online communities allowing people to connect around issues which affect them.
Clinical Trials and Research
While “rare is not so rare; rare disease patients are many”, therapies and cures for rare diseases are very definitely rare. There are only 200-300 treatments approved in Europe for the 6,000+ known rare diseases. As a result the best option for a rare disease patient to access therapy may be through a clinical trial.
To provide care for people with a rare disease and to encourage pharmaceutical and biotechnology companies to invest in treatment for rare diseases, governments have created various legal and financial incentives. In 1983 the Orphan Drug Act was introduced in the USA and in 1999 legislation was approved by the European Parliament. This legislation grants, among other things, a ten-year market exclusivity for any new orphan drug.
As a result of these policies there is more industry investing in development of therapies for rare diseases. With this in mind the best hope for many sufferers of a rare disease is via access to a clinical trial. To do this you must speak with your medical practitioner to understand what therapies in development might suit your particular set of circumstances and if/how you can access these ‘unapproved’ medicines
The best way to determine if there are any trials planned or underway that might be relevant for you is to search clinicaltrials.gov. Do not be put off by the apparent lack of local availability of a trial site for a particular therapy. Keep in mind that in many circumstances there are only a handful of patients with the particular rare disease being targeted, so the sponsor may seek to enroll patients from a large number of locations.
In a recent survey more than one third (37%) of rare disease patients surveyed declare they have already participated in a research study. The main motivations that lead rare disease patients to participate in research are first the fact that they want to help science and the community and then to receive new treatment options.
What is Rare Disease Day?
Rare Disease Day takes place every year on the last day of February, a ‘rare’ date in a month with a ‘rare’ number of days! On and around this day, hundreds of patient organisations from different countries and regions throughout the world hold activities to raise awareness for rare disease communities globally. The campaign seeks to raise awareness with the general public and amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone with a genuine interest in rare diseases.
Building awareness of rare diseases is important quite simply because 1 in 17 people will live with a rare disease at some point in their life. Despite this, there is no cure for the vast majority of rare diseases and many go undiagnosed. Rare Disease Day improves knowledge amongst the general public of rare diseases while encouraging researchers and decision makers to address the needs of those living with rare diseases.
The campaign started as a European event on February 29th, 2008 and has progressively become a world phenomenon, with participation in 94 countries all over the world in 2017.
Each year EURORDIS releases a video for Rare Disease Day featuring rare disease patients, their families, and other stakeholders in the rare disease community. These videos are a valuable tool for all of us advocating on behalf or rare disease patients.