Voices of The 1 in 17.
Members of the NI RARE community shared their stories of solidarity, perseverance and resilience; how they navigated an often painful and traumatic diagnostic odyssey, through a healthcare system under enormous strain; and how they became experts by experience in the understanding and self-management of their conditions that are at present incurable. From the perspective of their vocation, researchers and medical practitioners spoke passionately about their mission to understand the pathology of complex biological mechanisms; working tirelessly to develop and apply innovative treatments to people diagnosed with rare diseases, half of whom will be children.
The collective voice of the rare community matters, and not only to practitioners and policy-makers — they inspire us all.
Patient | Practitioner | Policy-maker — this is: Rare Stories
Funding from the Rank Foundation and an opportunity to partner with esc films NIRDP worked to capture on film the lived experience of people diagnosed with rare diseases — conditions so rare the prevalence can be one in every two billion people, in some cases.
Launch of Rare Stories Film Project
Introducing Dermot Devlin, who lives with a rare disease called Mucopolysaccharides Morquio.
Dr Shane McKee Consultant in Genetic & Genomic Medicine NI Regional Genetics Centre.
Introducing Anne-Marie having identical twin daughters with the rare genetic condition called Phenylketonuria (PKU).
Introducing Mandy who lives with the Rare Condition Ehlers-Danlos Syndrome. Mandy’s story is an inspiration – a powerful & positive one despite a lifechanging diagnosis
Introducing John who lives with Fibrous Dysplasia. John talks of his decades long diagnostic odyssey and the urgent need for a NI Rare Disease Registry
Introducing Angela who lives with rare condition – Antiphospholipid Syndrome. This film includes how important it is for Health Professionals listen to the patient.
Introducing Lucy & Zoe who live with a rare condition -FOP – Fibrodysplasia Ossificans Progressiva. Their story discussece, independence, and frustrations.
Introducing Rhoda Walker who lives with Ehlers-Danlos Syndrome. Rhoda talks about resilience and that no one should be disadvantaged because of the rarity of their condition and the challenges of rare!!
Introducing William Duddy – Bill Lecturer in Stratified Medicine (Bioinformatics), Bills interest in rare diseases stems from the experience of having a brother with Duchenne muscular dystrophy.
Introducing Saul & Jane. Saul who lives with a rare condition SED – Spondyloepiphyseal Dysplasia Congenita. Saul film discusses independence, inclusion, positivity
Introducing Dr Stephanie Duguez a Senior Lecturer in Personalized Medicine at Ulster University, Dr Duguez film discusses the importance of patient engagement, Rare Disease research, its challenges, and much much more. ‘
Rare Stories – Voices of the 1 in 17 NIRDP Introducing Julie Power who lives with Vasculitis. Julie’s story discussed symptoms, the diagnosis odyssey, and the importance of the patient’s voice!