Rare Diseases

We're very proud to be home to the UK’s first rare diseases centre for children. The centre, located in Waterfall House has been generously funded by donations to the Birmingham Children’s Hospital Charity’s Star Appeal, which raised £3.65million for the cause.

We treat approximately 9,000 children and young people with more than 500 different rare diseases from across the UK and have 11 highly-specialised services. The centre means that we will be able to offer our rare disease children and young people highly coordinated multidisciplinary and multi-specialty rare disease clinics together with peer support and consistent access to research, information and treatment.

We are proud to be redefining the best care from a 'one-size-fits-all' to a patient-centred approach in which we help children and families with rare diseases lead the best quality of life possible.

Our work with Roald Dahl’s Marvellous Children’s Charity

Roald Dahl’s Marvellous Children’s Charity has provided us with funding to coordinate and enhance the care of our children and young people with rare diseases. We have two Roald Dahl specialist rare disease nurses and one Roald Dahl rare disease transition sister who provide support to families ranging from advice on benefits to liaising with healthcare professionals on behalf of a child or young person.

The Roald Dahl nursing team helps families affected by rare and undiagnosed conditions to navigate the health and social care system. Our young adults affected by rare diseases transition to the Centre for Rare Diseases at the Queen Elizabeth Hospital, Birmingham, with help from our transition sister.

Syndromes Without a Name (SWAN)

For those patients without a confirmed diagnosis, we offer a bespoke clinic together with the support of SWAN. We are one of the highest recruiting hospitals to the 100,000 Genome Project in the UK - to find out more visit the official West Midlands Regional Genomic Medicine Centre website.

Marvellous Superstar Club

Our Marvellous Superstar Club holds special family fun days for children, young people and families affected by rare and undiagnosed diseases. We invite various patient support organisations and charities to provide practical and psychological support to families, as well as to carry out research projects (e.g. psychological effect of rare diseases on siblings). For the children and young people, we have games, races, a mobile zoo as well as lovely fresh pancakes!

Contact Details:

Please call our main reception on 0121 333 6253

Main contacts:

  • Dr Larissa Kerecuk, Rare Disease Lead, Consultant Paediatric Nephrologist
  • Janet Tuberville-Greenley, Roald Rare Disease Transition Sister
  • Jemima Saunders and Jacquie Hussain, Roald Dahl Rare Disease Specialist Nurses.