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.

Although rare diseases may be individually rare, they are collectively common, with 1 in 17 people being affected by a rare disease at some point in their lives. This amounts to 3.5 million people in the UK and 30 million people across Europe, with 75 per cent of rare diseases affecting children, 

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.

Patient story

Logan, a patient of our Centre for Rare Diseases, has shared his Rare Disease story here.

Carter, a patient of our Centre for Rare Diseases, has also shared his story here.

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:

Dr Larissa Kerecuk                           Tel 0121 333 9227

Rare Disease Lead                           Fax 0121 333 9231

                                                               

Janet Turberville-Greenley          Tel 0121 333 9999 ext 6324

Roald Dahl Rare Disease Transition Sister             

 

Sarah Rose                                          Tel 0121 333 9999 ext 6255/6312

Jacquie Hussain

Tina Boswell

Roald Dahl Rare Disease Clinical Nurse Specialist

bwc.raretogether@nhs.net

If professionals wish to refer a patient, they should email bwc.raretogether@nhs.net to request a referral form. 

Events

A Co-ordination of Care for Rare Diseases webinar will be taking place on 16 March, 2 - 4pm. To find out more, or to register your place, follow this link. 

Useful websites

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