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 understanding, diagnosis and therapeutic management of rare diseases. This podcast was initiated, organised and funded by Amicus Therapeutics UK Operations Ltd and is intended for healthcare professionals in UK. The views expressed reflect the experience and opinions of the speaker. Individual experiences may vary.   NP-NN-UKI-00161024 (date of preparation: February 2025)

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 other investigations and imaging to consider, and also touch on who to contact for advice when suspecting a rare disease. This podcast was initiated, organised and funded by Amicus Therapeutics UK Operations Ltd and is intended for healthcare professionals in UK. The views expressed reflect the experience and opinions of the speakers. Individual experiences may vary. NP-NN-UKI-00151024 (Date of preparation: October 2024)

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 impactful projects for individuals with rare diseases over recent years, and highlights what more needs to be done to change the healthcare landscape for these individuals as we strive towards improving health equity for people living with rare diseases.This podcast was initiated, organised and funded by Amicus Therapeutics UK Operations Ltd and is intended for healthcare professionals in UK. The views expressed reflect the experience and opinions of the speaker. Individual experiences may vary. NP-NN-UKI-00181024 (Date of preparation: October 2024)

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 when/how to contact genetic counsellors.This podcast was initiated, organised and funded by Amicus Therapeutics UK Operations Ltd and is intended for healthcare professionals in UK. The views expressed reflect the experience and opinions of the speaker. Individual experiences may vary.NP-NN-UKI-00201024 (Date of preparation: October 2024)

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 impact on individuals and their relatives.This podcast was initiated, organised and funded by Amicus Therapeutics and is intended for healthcare professionals in UK. The views expressed reflect the experience and opinions of the speaker. Individual experiences may vary.NP-NN-UKI-00171024 (Date of preparation: October 2024)