Medical Mystery Tour – My Daughter’s Search for a Diagnosis

Cambridge Rare Disease Network - RAREfest24 | Medical Mystery Tour 1

Medical Mystery Tour – My Daughter’s Search for a Diagnosis

When Naomi learnt about Crina’s work to harvest and organise published data of rare diseases in order to make a useful diagnostic tool, her immediate thought was that she hoped her daughter’s consultant knew about this!.

Her daughter (22) has been ill for over a year and is awaiting the results of genetic testing. She is due to sit her Oxford finals this summer, but struggles with a fever every single day, and is always cold, fatigued and breathless. Her blood tests and symptoms suggest inflammation, but every test for infection comes back negative. Her life has completely changed.

Diagnosis of rare diseases usually happens in childhood. Naomi decided to document her daughter’s journey as a young adult, with all the anxiety, disruption and admin that she has to deal with. All the pieces of the medical mystery puzzle are also the pieces of her life

Cambridge Rare Disease Network - RAREfest24 | Medical Mystery Tour 2
Cambridge Rare Disease Network - RAREfest24 | Medical Mystery Tour 3

Artist – Naomi Davies

Naomi Davies is a popular Cambridge-based artist – her work celebrates this beautiful city. She is frequently commissioned by colleges, universities, individuals and businesses.

She works in pen and then uses watercolour to add colour and vibrancy to her lines. She has ADHD, and loves a sci-art challenge!

Scientist – Dr Crina Samarghitean

CEO/Founder Director Innovation, Data  Digital Health Innovation Academy, Cambridge, UK

Crina has developed bioinformatics tools for primary immunodeficiencies, using a system biology approach to tackle these challenging diseases, ranging from databases, registries, classification/networks algorithms, decision support systems and ontologies (HPO).