28 February is Rare Disease Day – a day dedicated to raising awareness and making a positive impact of 300 million + people worldwide living with a rare disease, and those who care for them. The theme for 2023 focuses on the importance of well-coordinated care and how it can make a real difference to people’s quality of life.
Many rare conditions are lifelong, complex and difficult to treat, and therefore require the expertise from a wide range of healthcare professionals such as GPs, specialist hospital consultants, specialist nurses, physiotherapists, occupational therapists, speech and language therapists, and learning disability nurses.
Co-ordinating multiple appointments can be challenging and stressful, therefore minimising the impact of such an administrative burden can go long way to helping patients and their families navigate their way through the experience of having a rare disease. It can also help healthcare professionals work together more effectively to provide high-quality and joined-up care.
What are rare diseases?
Rare diseases are a diverse group of disorders that affect fewer than 1 in 2,000 people in Europe or fewer than 200,000 people in the USA. Although these disorders are, by definition, rare, it’s estimated that between over 300 people worldwide have a rare disease .
What can we do?
Rare diseases are frequently debilitating, and patients may face additional challenges because of the limited knowledge of many rare diseases. Symptoms of rare diseases may resemble those of more common conditions, which often leads to a significant delay in getting a correct diagnosis. Even after a diagnosis is made, treatment options can be inadequate; they are often very expensive, unavailable in certain countries or may require high levels of palliative care. By raising awareness of rare diseases, we can improve early diagnosis, encourage policymakers to increase access to services and fund research into rare diseases, as well as reduce the feelings of isolation or the discrimination faced by patients.
At Porterhouse Medical, we are passionate about the work that we do to improve patient outcomes and have a specialist team focused on rare diseases. We work with our global pharmaceutical partners on a variety of projects that aim to raise awareness of rare diseases, improve diagnosis and increase communication between healthcare professionals working with patients who have a rare disease.
To find out more about events and activities on Rare Disease Day 2023 or to get information about rare diseases, take a look at the following resources:
- www.rarediseaseday.org – The official Rare Disease Day website, where many have shared their stories about living with a rare disease or having a family member who is affected
- www.eurordis.org – The website for the patient-driven alliance representing patient organisations for rare diseases in Europe
- www.orpha.net – A key resource for all information regarding rare diseases, including nomenclature and classification of rare diseases, information on orphan drugs, and directories of patient organisations, professional institutions and expert centres
If you would like information on the insights research and healthcare communications services offered by the Porterhouse Medical, please get in touch. We would love to hear from you! Contact: Mark.Walker@PorterhouseMedical.com
- Rare Disease Day. https://www.raredisease.org.uk/rare-disease-day-2023. Accessed February 2023.
- About Gard. What is a rare disease? https://rarediseases.info.nih.gov/about. Accessed February 2023.
- Nguengang Wakap S, Lambert DM, Olry A et al. Estimating cumulative point prevalence of rare diseases: Analysis of the Orphanet database. Eur J Hum Genet 2020; 28 (2): 165–173.