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Keep Me Informed - inclusion of rare disease classification

We have introduced the category of 'Rare diseases and conditions' to Keep Me Informed.

Please go to the full article to read an introduction from Cystic Fibrosis patient and European Health Parliament Member, Thomas Smith.

We have classified over 100 rare conditions in addition, where appropriate, to their collective description (such as cancer, respiratory disease).

According to Rare Diseases UK a rare disease is defined by the European Union as one that affects fewer than 1 in 2,000 of the general population. There are between 6,000 and 8,000 known rare diseases and around five new rare diseases are described in medical literature each week. Some 6% of the population are affected by a rare disease.

In the USA a condition that affects under 200,000 people, is considered a rare condition.

We have introduced links to the National Organization for Rare Disease (NORD) database that provides information on over 1200 rare conditions.

Our future plans include working with patient organisations to provide resources for patients, not only for their condition, but also for other conditions they may experience.

For further information on rare conditions, see the main article.

Feature
Introduction by Thomas Smith

Thomas Smith is a Cystic Fibrosis patient and a Member of the European Health Parliament - he knows what matters for patients and how their interests can be made visible and powerfully advocated. Combining experience of policy, clinical research and media representation skills with an unshakeable belief that meaningful patient involvement is key for sustainability and meaningful innovation in healthcare, Thomas is a constructive challenger of the status quo.

"Too often, information regarding drug development and the bringing to the market of these drugs is the preserve of currently associated stakeholders. Plainly speaking, this involves pharmaceutical companies, regulatory bodies like the European Medicines Agency or the Food and Drug Administration and Clinical Care Teams. What about the disease communities themselves? What about the patients? What about their support networks?

As it stands, vital work goes on behind closed doors and Keep Me Informed seeks to raise awareness around drug development for Rare Diseases and Conditions. Arming patients and the wider public with this information will empower people to advocate for their own interests and consider and plan their own treatment long term.

In lieu of more tangible advantages of Gene Therapy, the future of Rare Disease treatment is increasingly the re-purposing of existing drugs and every stakeholder benefits significantly from being more informed about broader Drug Development Pipelines for Rare Disease.

With increasing austerity and rising cost of drugs, public interest into the funding of new medicines has never been greater. Keep Me Informed will keep people up to date with the funding progress of drugs for their respective disease communities. More readily available scientific and commercial information regarding the efficacy and funding of these drugs will further allow patients to advocate for their own interest and gain access to cutting edge treatment as soon as it becomes available to them.

Keep Me Informed will also raise awareness around complications that are often associated with Rare Diseases but aren’t necessarily components of that diagnosis themselves. Kidney Stones in people with Cystic Fibrosis or Heart Failure for people with Amyloidosis, for example. This vital narrative surrounding Rare Disease is currently lacking."
Thomas Smith

One rare disease may affect only a handful of patients in the EU (European Union), and another may touch as many as 245,000. In the EU, as many as 30 million people may be affected by one of over 6000 existing rare diseases.

  • 80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.
  • 50% of rare diseases affect children.

Further sources of information about rare conditions:

Resources Link Site
National Organization for Rare Diseases https://rarediseases.org USA
Rare Disease UK (with Genetic Alliance and Swan UK) www.raredisease.org.uk UK
Orphanet www.orpha.net Europe
Many conditions are also represented by their own patient organisations, and links to these are also included in Keep Me Informed.

Reporting of suspected adverse reactions

Reporting suspected adverse reactions (side effects) after authorisation of the medicinal product is important. It allows continued monitoring of the benefit/risk balance of the medicinal product. Healthcare professionals or patients are asked to report any suspected adverse reactions via the Yellow Card Scheme at yellowcard.mhra.gov.uk or search for MHRA Yellow Card in the Google Play or Apple App Store.


Disclaimer: This site is designed to offer information for general educational purposes only. The health information furnished on this site and the interactive responses are not intended to be professional advice and are not intended to replace personal consultation with a qualified physician, pharmacist, or other healthcare professional. We cannot provide individual medical advice. You must always seek the advice of a professional for questions related to a disease, disease symptoms, and appropriate therapeutic treatments.