interview

29th September 2021

Not your usual heart attack

Jo McPherson daretothinkrare, disease, interview, medicalstudent, patient, raredisease, Uncategorised diagnosis, Heart, medical education, patient voice, rare disease, SCAD, Spontaneous Coronary Artery Dissection 0

Heart attacks may not be rare but SCAD is! Today is World Heart Day and although heart attacks may not be rare, there are other causes of heart attacks that […]

15th September 2021

The impact of living with Myotonic Dystrophy

Jo McPherson disease, Genetics, interview, patient, raredisease diagnosis, dystrophy, genetic, MD, medical education, muscular, myotonic, Myotonic Dystrophy, patient voice, rare disease 0

Doctors are patients too Genevieve Allum is a 34 year old GP who specialises in Dementia and lives on South Coast with her partner. Genevieve was diagnosed with Myotonic Dystrophy […]

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 […]