Resources for People Living with an IMD and their families

Inherited metabolic disorders (IMDs) is an umbrella term including more than 1400 diseases, most of which are extremely rare. Although the incidence of a single IMD is low (1:1.000.000 to 1:110.000 people) – the global incidence of all the diseases taken together range from 1:2500 to 1:800 people.

MetabERN is a European Reference Network of healthcare providers and patient organisations focused on rare metabolic diseases. To learn more about MetabERN, its objectives, and its activities, you can refer to this leaflet created by our patient organisations in collaboration with our experts. It contains a simple, concise, and easy-to-understand summary of MetabERN’s mission, objectives, and activities designed to address patients needs.

Living with an IMD often entails facing many healthcare, social, psychological and educational challenges (https://www.readcube.com/articles/10.1186/s13023-021-01948-5). Finding centralised, trustworthy, and understandable disease-specific information can be difficult for people living with IMDs. 

The links below will help you in this quest. These are resources where you can look for trusted information and find suggestions on how to seek support.

Information for patients and families:

Engaging with patient organisations

Patient organisations (POs) are important sources of information, support and networking for people living with IMDs and their families. They provide knowledge on conditions and experts in the field and support opportunities for collaboration in areas such as research and advocacy. Recognising POs unique role and relevance, MetabERN has developed close collaborations with national, international and European patient organisations which are full members of the network hyperlink to a page about MetabERN structure/governance. Find more about these patient organisations HERE.

MetabERN will build on existing strong relationships to better engage and support all people living with IMDs. MetabERN aims to leave no patient behind and strive towards breaking the isolation that many single patients experience.

Are you looking to engage with other patients or patient organisations?

Whatever the reason may be, take a look at the international and European patient organisations within MetabERN here or consider searching the RareConnect communities maintained by Care4Rare Canada in partnership with EURORDIS here.

You can also get in touch with our helpdesk for information on disease-specific support groups here.

Disclaimer:
The information provided in this guide is not intended to replace professional health care advice. Patients must consult with a qualified physician for diagnosis and treatment. MetabERN cannot be held responsible for any decisions made based on this information guide.