Patient advocacy groups are organisations that offer people with rare conditions support, information and a sense of community. Their aim is to empower rare disease patients, their families and the healthcare professionals who support them.
We do not endorse any of the groups listed on this page. They are only provided as examples of where to look for information. The content of these external websites is outside the responsibility of the AWAIMDS, and rests entirely with the organisation running the website.
Alex TLC (formerly known as ALD Life) (opens in new tab) provides practical support, advice and information to patients and families with all leukodystrophies, including Adrenoleukodystrophy; raises awareness to improve public education into these conditions; and aims to advance medical research into finding better treatments.
The AKU Society (opens in new tab) aims to transform the lives of AKU patients through patient support, community building, and medical research. There is also a disorder-specific forum (opens in new tab) for those affected by AKU on RareConnect.
There is a disorder-specific forum (opens in new tab) for those affected by Alpha Mannosidosis on RareConnect.
Barth Syndrome UK (opens in new tab) aims to save lives through education, advances in treatment and finding a cure. There is also a disorder-specific forum (opens in new tab) for those affected by Barth Syndrome on RareConnect.
Cambridge Rare Disease Network (open in new tab) put those living with rare conditions at the heart of everything that they do; supporting families, raising awareness, networking with impact and enabling solutions. They strive for a world where people with rare diseases are valued and supported.
Carers UK (opens in new tab) is the leading national charity for unpaid carers. They support, advocate for, champion and connect carers across the UK, so that no one has to care alone.
If you care for someone, you can have an assessment to see what might help make your life easier. This is called a carer's assessment. A carer's assessment is free and anyone over 18 can ask for one. Contact adult social services at your local council and ask for a carer's assessment.
There is a disorder-specific forum (opens in new tab) for those affected by Congenital Disorders of Glycosylation on RareConnect.
Cystinosis Foundation UK (opens in new tab) support individuals, families and researchers in the cystinosis community. There is also a disorder-specific forum (opens in new tab) for those affected by Cystinosis on RareConnect.
Education Programmes for Patients (EPP Cymru) (opens in new tab) provide a range of self-management courses for people living with a long-term health condition(s), and carers. Their self-management courses support people to have the confidence, information and skills needed to help manage their condition in partnership with their health and social care professionals.
EURORDIS - Rare Diseases Europe (opens in new tab) is a unique, non-profit alliance of over 1000 rare disease patient organisations from 74 countries that work together to improve the lives of over 300 million people living with a rare disease globally. By connecting patients, families and patient groups, as well as by bringing together all stakeholders and mobilising the rare disease community, EURORDIS strengthens the patient voice and shapes research, policies and patient services.
Fabry disease is closely related to mucopolysaccharidoses and is one of the lysosomal storage diseases. The MPS Society (opens in new tab) provides professional support to individuals, families, and professionals affected by both MPS and Fabry Disease.
The Galactosaemia Support Group (opens in new tab) brings families affected by Galactosaemia into contact with each other and offers support where most needed.The Group organises events, away days and weekend breaks together with biennial medical conferences and seminars. They also produce a wide range of literature and support material for members, in association with qualified dieticians, including newsletters and product updates.
Gaucher Association (opens in new tab) offers support to patients and families with their diagnosis and provides up-to-date information on the best treatments for Gaucher Disease. There is also a disorder-specific forum (opens in new tab) for those affected by Gaucher Disease on Rare Connect.
Genetic Alliance UK (opens in new tab) is the largest alliance of organisations supporting people with genetic, rare and undiagnosed conditions in the UK. They run two long standing projects - Rare Disease UK (opens in new tab), a campaign focused on making sure the UK Rare Disease Framework is as successful as possible, and SWAN UK (opens in new tab), the only dedicated support network in the UK for families affected by a syndrome without a name.
New genetic and genomic technologies enable us to develop a much more detailed understanding of the link between our genes and health. In recent years there has been international recognition that these technologies have the potential to revolutionise medicine and public health. Genomics Partnership Wales (opens in new tab), along with its partners and stakeholders, is working to harness the potential of genomics to improve the health, wellbeing and prosperity of the people of Wales.
Glut1 Deficiency UK (opens in new tab) focus on creating a better today and a brighter tomorrow for those affected by Glut 1 Deficiency, offering support to parents and carers of children and adults with Glut 1 Deficiency. Matthew's Friends (opens in new tab) are a UK reigstered charity specialising exclusively in medical Ketogenic Dietary Therapies. They support affected patients and families in the UK, raises awareness, helps fund research projects, and provides education and training in the treatment of Glut 1 Deficiency. There is also a disorder-specific forum (opens in new tab) for those affected by Glut 1 Deficiency on RareConnect.
There is a disorder-specific forum (opens in new tab) for those affected by GA1 on RareConnect.
The Association for Glycogen Storage Disease (opens in new tab) offers patient and family support, distributes information, and contributes to the advancement of treatments and cures through sponsorship of research, studies and trials. The International Association for Muscle Glycogen Storage Disease (IAMGSD) (opens in new tab) are a patient-led international group that aims to connect, educate, and support patients, clinicians, and researchers worldwide. There is also a disorder-specific forum for GSD Types 1 and 3 on Rare Connect.
Financial help may be available to you if you're living with a health condition or disability. Please visit Benefits and financial support if you're disabled or have a health condition (opens in new tab) for further information.
There is a disorder-specific forum (opens in new tab) for those affected by LCHADD on RareConnect.
There is a disorder-specific forum (opens in new tab) for those affected by MCADD on RareConnect.
As the umbrella patient organisation for all Inherited Metabolic Disorders, Metabolic Support UK (opens in new tab) can provide bespoke support, advice and information.
MLD Support Association UK (opens in new tab) provides support to families, enabling them to share their experiences; provides information to medical professionals to ensure a correct diagnosis, on-going care and treatment options; and supports research into therapeutic procedures for MLD research.
The Organic Acidemia Association (opens in new tab) support patients with organic acidemia metabolic disorders, including Methylmalonic Acidemia.
The Lily Foundation (opens in a new tab) supports people whose lives are affected by Mitochondrial Disease, raises awareness, and funds research into prevention, diagnosis and treatment. There is a disorder-specific forum for those affected by Mitochondrial Diseases (opens in new tab) on RareConnect.
The MPS Society (opens in new tab) provides professional support to individuals, families, and professionals affected by MPS and related Lysosomal Storage Diseases throughout the UK. There are disorder-specific forums for those affected by Sanfilippo Syndrome (opens in a new link) and Hunter Syndrome (opens new tab) on RareConnect.
There is a disorder-specific forum (opens in new tab) for those affected by Multiple Sulfatase Deficiency on RareConnect.
Niemann-Pick UK - NPUK (opens in new tab) is dedicated to making a positive difference to the lives of those affected by Niemann-Pick diseases by raising awareness; providing practical and emotional support, advice and information; and facilitating research into potential therapies. There is also a disorder-specific forum (opens in new tab) for those affected by Niemann-Pick Type C on RareConnect.
The Organic Acidemia Association (opens in new tab) support patients with organic acidemia metabolic disorders. There is also a disorder-specific forum (opens in new tab) for those affected by Organic Acidemias (opens in new tab) on RareConnect.
The National Society for Phenylketnouria - NSPKU (opens in new tab) exists to help and support people with PKU, their families, and carers and actively promotes the care and treatment of PKU, working closely with medical professionals in the UK.
The Association for Glycogen Storage Disease (opens in new tab) offers support and information about GSD II (also known as Pompe Disease). Further support and information is also available via the UK Pompe Support Network (opens in new tab).
The British Porphyria Association (opens in new tab) supports and educates patients, relatives and medical professionals to help improve the lives of those affected, and promotes research into this group of rare conditions. There is also a disorder-specific forum (opens in new tab) for those affected by Porphyria on RareConnect. Safe drug lists, patient information and advice for clinicians are also available via the International Porphyria Network (opens in new tab).
There is a disorder-specific forum (opens in new tab) for those affected by Primary Carnitine Deficiency on RareConnect.
The Organic Acidemia Association (opens in new tab) support patients with organic acidemia metabolic disorders, including Propionic Acidemia. There is a disorder-specific forum (opens in new tab) for those affected by Propionic Acidemia on RareConnect.
RareConnect (opens in new tab) is a safe, easy to use platform where rare disease patients, families and patient organisations can 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 while living with a rare disease.
Please note that RareConnect have made the difficult decision to retire their social media platform on 1st December 2023. RareConnect will become view only, meaning users will still be able to read posts and comments made before 1st December 2023 across the existing communities. However, users will not be able to create new communities or posts, or use the private message function.
The emotional and psychological impact of living with a rare disease can be considerable. Rareminds (opens in new tab) advocate for, and provide, specialist mental health support for the rare disease community. Their team has been providing online counselling and wellbeing services for rare disease charities in the UK since 2014.
Rareminds Wellbeing Hub (opens in new tab) has a wealth of resources and information to help you live as well as possible with your rare condition
The Rare Disease Research Network (opens in new tab) is a partnership project between CamRARE and the Patient Led Research Hub, funded by the National Institute for Health and Social Care Research (NIHR) and sponsored by Cambridge University Hospitals NHS Foundation Trust.
The project aims to support the rare disease community in building an online network of partnerships and resources to facilitate new patient-centred research opportunities. The network will promote equity by allowing more rare diseases, and the patient groups supporting their communities, to be seen and heard in the research space.
Rare Resources – Cymru (opens in new tab) is a collection of bilingual information guides for families who have recently received a diagnosis of a genetic or rare condition, are on the journey to a diagnosis, or have been told their child’s condition is so rare they may not get a diagnosis. Rare Resources - Wales has been developed in collaboration between Genetic Alliance UK and families in Wales and provides links to reliable sources of information and support, suitable for both children and adults.
Global DARE Foundation (opens in new tab) mission is to promote worldwide awareness and better quality of life for all who are diagnosed with Adult Refsum Disease. They aim to support research, education initiatives, awareness campaigns and advocacy. There is also a disorder-specific forum (opens in new tab) for those affected by Refsum Disease on RareConnect.
Extra financial help is available from Student Finance Wales (opens in new tab) if you are a full-time undergraduate Welsh student with a disability. Disabled Students’ Allowance (DSA) can be used to pay for study-related costs such as equipment, non-medical help, travel and photocopying and printing. You can apply for DSA to cover some of the extra costs you have because of a mental health problem, long term illness or any other disability.
TEMPLE (Tools Enabling Metabolic Parents LEarning) are a set of teaching slides and booklets that provide essential information about different inherited metabolic disorders that require special diets as part of their management. These teaching tools are aimed at parents who may have an infant or child that has been recently diagnosed with a disorder, but they are also useful when teaching children, extended family members, child minders, nursery workers and school team and others. They have been developed by a team of experienced clinical and research metabolic dietitians from the UK who are members of the British Inherited Metabolic Disease Group (BIMDG) (opens in new tab).
Turn2us (opens in new tab) is a national charity offering information and practical help to people facing financial insecurity.
There is a disorder-specific forum (opens in new tab) for those affected by Trimethylaminuria on Rare Connect.
The UK LSD Patient Collaborative Group (opens in new tab) is comprised of patient organisations representing those affected by Lysosomal Storage Disorders (LSDs). The group is made up of representatives from 7 charities in the UK who provide support and information to patients and families affected by different LSDs.
UCD and You (opens in new tab) has a wealth of information and resources for patients and families living with an Urea Cycle Disorder. There is a disorder-specific forum (opens in new tab) for those affected by Urea Cycle Disorders on RareConnect.
Through events and support networks, Wales Gene Park (opens in new tab) link those living with genetic conditions to advances in genetics and genomics research.
Wales Gene Park is funded by the Welsh Government through Health and Care Research Wales. Hosted by the Division of Cancer and Genetics (DCG) at Cardiff University (CU) School of Medicine, Wales Gene Park supports and promotes genetic and genomic research across Wales, thereby aiding the implementation of the Welsh Government’s Genomics for Precision Medicine Strategy.
Wales Gene Park has worked with patients and families, the public and other partners to bring together in one place as much information as possible about rare disease research projects for Welsh patients – the Rare Disease Research Gateway (opens in new tab)
National implementation networks in Wales provide a structure to support improvement, change and delivery. The Wales Rare Diseases Implementation Network (opens in new tab) oversee the Wales Rare Diseases Action Plan 2022-2027 (opens in new tab) and support health boards to deliver their local plans.