The unusual suspects: Rare disease in everyday medicine

Author of ‘Not All Heroes Wear Capes’; public speaker and co-founder of the ‘Love Me Love My Face Foundation’

Dr Kauffmann is a consultant community paediatrician and Associate Medical Director for children’s community health services for Manchester Local Care Organisation.

She has a special interest in paediatric palliative care. She has extensive experience in clinical governance, service development and medical performance management. In her spare time, she is a communication skills trainer. She chaired the The Royal College of Paediatrics and Child Health (RCPCH) PiMM committee (now called Health Services Committee) for many years, spent four years as RCPCH treasurer until 2018 and is currently the chair of British Association for Community Child Health (BACCH).

She is the lead Faculty for the Paediatric Clinical Leadership Development Programme at RCPCH.

Alström Syndrome UK (ASUK) was established in 1998 and is a registered charity providing information and support to individuals and families affected by Alström Syndrome (AS) and to the service providers working with them.
ASUK works in partnership with Birmingham Women’s and Children’s Hospital and the Queen Elizabeth Hospital, Birmingham to deliver a highly specialised service, funded by NHS England. As a patient led organisation, the needs and wishes of people affected by Alström Syndrome remain at the heart of everything we do. We aim to; provide personalised support, raiseawareness, conduct pioneering research, and enable better treatments and monitoring

Aisha Seedat is a graduate of De Montfort University in Leicester, having been diagnosed with a rare disease; Morquio Syndrome from birth. Aisha is a Patient Ambassador for Medics 4 Rare Diseases, and having a rare disease herself she is passionate about supporting children and young adults like her, especially their families. She is also a public speaker and advocate as she talks about her journey with having a rare disease and how she has got through life by overcoming the largest of hurdles. She is also a Guest speaker for Demontfort University for the Interprofessional Education Module, talking about her lived experiences with a rare disease and mental health combined. 

Kevin Ward’s background is in Psychology and he has previously worked within the fields of
Educational Psychology and Public Health, with a specific focus on obesity, blood borne viruses and sexual health research. Kevin currently works as an Area Teams Manager for Healthcare Improvement Scotland’s Community Engagement and System Redesign Directorate, focusing primarily on enhancing engagement and equality within health boards, and also being heavily involved in the ‘What Matters To You?’ movement within Scotland. In his spare time he likes to spend time with his wife, two sons and dog Monty, enjoying the odd game of golf with friends when time allows.

Hope was diagnosed with Multiple Endocrine Neoplasia Type 1 at 13. Managing a prolactinoma (pituitary gland tumour), which throughout puberty caused secondary Addison's. Hope continues to manage MEN1 whilst pursuing an active career in the music industry