Grappling with my daughter’s epilepsy diagnosis
Madeleine Oudin's daughter Margot was found to have SCN8A mutation causing epilepsy. Here she tells her story as both a scientist and mother.
Rare disease as a jigsaw - Timothy Syndrome
Guest blogger Sophie Muir, mother, Chair & Founder of Timothy Syndrome Alliance TSA talks about her experiences of this rare disease
Ensuring parents have a voice in their child’s care
Guest blogger Adam Clatworthy talks about the importance of parents and patients working together with clinicians to help deliver diagnoses.
The long road to diagnosis: Pitt-Hopkins Syndrome
This week, we welcome Sue Routledge as guest blogger. Sue is mother to mother to Christopher, who has Pitt-Hopkins syndrome, and his brothers as well as Chair / Co-founder of Pitt Hopkins UK.
Living with a rare disease in perspective: Lynsey’s Rare Journey
Lynsey Chediak is on Congenica’s PAE Advisory Board and Head of Partnerships at Rarebase. She also lives with a rare, genetic joint disease arthrogryposis.
Science, genomics hope and a father's love
Congenica’s PAE Lead Charles Steward is guest on ‘Making our Way’ podcast, a place for conversations about some of the toughest and best moments in life.
How we learnt about Menkes Syndrome
For our latest patient guest blog, we welcome Daniel DeFabio, Co-Founder of DISORDER: The Rare Disease Film Festival. Daniel and his wife Tina lost their eldest son Lucas when he was 11 years old to ...
Discovering Glut1 Deficiency Syndrome
In recognition of the first International Glut1 Awareness Day, guest blogger Trudy Morgan from Glut1 Deficiency UK talks about her experiences.
Raising awareness of Dravet Syndrome
Galia Wilson and Claire Eldred have provided us with today's article in recognition of International Dravet Syndrome Awareness day, Wednesday 23rd June.
Our story of Norrie Disease
We welcome guest blogger Carla Golledge, who shares her story about son Cameron who was born with Norrie disease.
Mutual Collaboration focus for CRDN Companies Forum
Alastair Kent and Dr Charles Steward attended the virtual Cambridge Rare Disease Network (CRDN) Companies Forum Patient Group and Industry Partnering event
Helping to Further the Patient Impact of Genomics
Dr Charles Steward was interviewed for podcast, Once Upon a Gene, where Effie speaks to others about their journey through life with rare disease.