interview

25th March 2021

I am number 17 campaign

Jo McPherson daretothinkrare, disease, interview, patient, raredisease I am number 17, Occipital horn syndrome, OHS 0

This week changemaker David Rose speaks with our CEO Lucy about what it is like to live with the ultra-rare disease occipital horn syndrome, advocacy efforts and the I am number 17 […]

26th August 2020

A dual perspective on genomic medicine

Jo McPherson Genomics, interview, raredisease, Research, Uncategorised, Video Bilateral periventricular leukomalacia, Cerebral palsy, Genomics, Infantile spasms, West syndome 0

Dr Charles Steward is the Patient Advocacy & Patient Engagement Lead at Congenica a digital health company based on the Wellcome Genome Campus UK. He has spent 26 years working […]

2nd June 2019

The Diagnostic Odyssey – A Mother’s Experience

Jo McPherson congenital, daretothinkrare, disease, interview, patient CSID, Deficiency, diagnosis, Diagnostic odyssey, Diet, Enzyme, Enzyme deficiency, Gastroenterology, Mother, Nutrition, rare, rare disease, Rare reality, Sugar 3

The diagnostic odyssey is a term used to describe the long and arduous journey that many rare disease patients find themselves on in pursuit of a diagnosis. The charity, Rare […]