Rare and There

The sixth instalment of ‘Rare and There’ invites Dr. Lisa Kauffman an expert in communication skills for clinicians. She shares her insights on how to improve communication skills in clinical practice for individuals with rare disease. Living with a rare disease can be challenging, so providing effective communication in the clinic could be the key to fostering collaborations which accelerate the...

Cardiac involvement is common for rare diseases and carries a major prognostic impact, particularly for Fabry disease. This week Professor Richard Steeds and Dr. Ashwin Roy, consultant cardiologists from Birmingham, cover the key things cardiologists need to know about rare conditions like Fabry disease. Providing advice on what healthcare professionals should do in clinical practice, including ot...

In this episode, Dr. Sondra Butterworth shares her vision and values of enhancing wellbeing and promoting inclusivity for individuals with rare diseases. Dr. Butterworth is a community health psychologist and the CEO and Founder of RareQoL, a not for-profit social enterprise that aims to improve the quality of life for underserved communities. She discusses how she has championed innovative and im...

Dr. Viraj Patel, a clinical geneticist from Guy's and St Thomas' in London, discusses what is involved in genetic testing to identify individuals with rare diseases. Dr. Patel discusses what has changed over recent years, including the introduction of Genomic Laboratory Hubs (GLHs). This episode includes tips on what to do when you have an individual presenting with symptoms of unknown origin, and...

In this episode of ‘Rare and There’, Dr. Uma Ramaswami from the Royal Free Hospital in London provides an introduction into rare diseases, focusing on genetic, inherited disorders of the metabolism. Dr. Ramaswami outlines the current landscape of rare diseases and basic principles for how they are managed, along with common challenges patients may face. Inherent metabolic disease (IMD) centres are...

Since many individuals with a rare disease can face years of delayed diagnosis and unnecessary testing, in the first episode of ‘Rare and There’, CEO of Medics4RareDiseases, Dr. Lucy McKay, covers why it is important for all medical professionals to learn about the basics of rare diseases to help further our understanding of the needs of the rare disease community, particularly regarding the impac...