Children and young people with rare diseases have been the brains behind two new bespoke nursing roles for Birmingham Children’s Hospital.

Working with Roald Dahl’s Marvellous Children’s Charity, who have funded the posts, many children and their families were involved throughout the recruitment process, with the final decision in the hands of a panel of parents.

They chose Kate Penny-Thomas as the new Roald Dahl Rare Disease Nurse and Sian Bicker as the new Roald Dahl Genetics Nurse, who bring with them a unique wealth of knowledge and expertise.

Kate’s role will be to support children and their families diagnosed with a rare disease, as well as setting up new tuberous sclerosis clinics.

Sian will be working on the pioneering 100,000 Genomes Project, which the hospital is supporting by recruiting young people with a rare disease but without a genetic diagnosis. So far, more than 170 children have been recruited to the ground-breaking study, which is aiming to develop a new genomic medicine service in the NHS – transforming the way people are cared for.

Sian will also offer vital support to families with conditions without a firm diagnosis and is working on setting up the country’s first SWAN (Syndrome Without a Name) clinics. Read more

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