Rare disease patient advocacy groups

Patient advocacy groups (PAGs) are often set up by people living with a specific rare condition and their families, with the aim of providing a supportive community for others with the same condition. They are a lifeline for many, providing support, accurate information and practical tips on what a patient and their family can expect in the future. PAGs also work to improve diagnosis and symptom management by running awareness campaigns and leading research projects.

It is important that healthcare professionals are aware of PAGs and how to find them. A 2016 report from Rare Disease UK found that four in five respondents did not receive information on patient support groups by a specialist at the time of diagnosis. Signposting patients to a relevant PAG can make all the difference to a patient and their family, as they can provide reliable information and answer questions that a healthcare professional may not be able to.

Some PAGs are condition-specific – for example, Lupus UK. Others are umbrella groups that cover many different conditions – for example, EURORDIS, which is an alliance of patient organisations across Europe.

Some PAGs focus specifically on connecting patients and hosting family conferences, while others aim to improve care pathways to diagnosis or focus on research into treatments. Larger PAGs and charities often do all these things.

Most rare disease PAGs start life as ‘kitchen table organisations’ or Facebook groups. They are normally run by volunteers, though some have evolved into well-established charities with employees and large budgets – Cystic Fibrosis Trust and Muscular Dystrophy UK are two examples. These organisations have the ability to establish their own medical advisory boards, which enables them to influence or fund research, provide robust condition-specific information and influence treatment guidance.

Umbrella PAGs

Umbrella PAGs provide general support to those living with a rare disease that does not yet have its own PAG, and to patients who do not have a diagnosis. For example, the umbrella group Beacon for Rare Diseases provides helpful patient resources and may be able to connect a patient with a particular support group.

Some patients may have a syndrome without a name (SWAN) – that is, their rare condition cannot yet be diagnosed. Signposting those patients and their families to the umbrella group SWAN UK could be hugely beneficial: the aims of SWAN UK are to ensure that patients and families never stop hoping for a diagnosis and to offer information and support through their online forums.

PAGs do not exist for the benefit of patients alone. They can also offer up-to-date, reliable and often expert-reviewed information and research opportunities for healthcare professionals. For example, Ataxia UK hosts awareness-boosting training days for healthcare professionals that cover topics such as genetic counselling, diagnosis, condition management and physiotherapy. As a result, PAGs can help healthcare professionals to establish a distinct medical expertise and gain a well-rounded understanding of a condition’s diagnosis and progression, which could open up career avenues.

Ultimately, this contributes to the wellbeing of the patients: a healthcare professional who is well-informed, actively involved in the management of a rare condition and collaborating with the relevant PAG can significantly enhance a patient’s care and lived experience.

PAGs are often looking for clinicians to become medical advisory board members and trustees, and to help with reviewing information guides. If engaging with a PAG is something that you are interested in, the first step is to choose a group in your specialty area and make contact. Many PAGs run events and conferences for clinicians, medical students and patients and their families, which provide useful education and networking opportunities.

There are several websites that can help medical professionals learn about different PAGs: Orphanet, the National Organization for Rare Disorders (NORD) and Genetic Alliance UK are a few examples. The resources section of this article also lists a range of useful websites.

For clinicians

• Beacon for Rare Diseases
• Genetic Alliance UK: A-Z directory of member organisations
• Medics4RareDiseases: Available courses
• National Organization for Rare Disorders
• Orphanet
• Rare Disease UK: The rare reality: An insight into the patient and family experience of rare disease (PDF, 44 pages)
• Rare Revolution magazine
• SWAN UK
• Unique

For patients

• Beacon for Rare Diseases
• Genetic Alliance UK
• National Organization for Rare Disorders
• Orphanet
• Rare Revolution magazine
• SWAN UK
• Unique