Rare Diseases

At Birmingham Children’s Hospital, we are one of only four specialist independent children’s hospitals and have the largest number of sub-specialities on one site of any Children’s Hospital in the UK.

Our hospital delivers one of the highest numbers of nationally commissioned children’s services in England. We treat over 9000 patients with 500 different rare diseases per year.  Many of our patients with rare diseases require highly complex care, which involves multiple specialities and health care professionals. 

Birmingham Children’s Hospital Charity’s Star Appeal is fundraising to create the UK's first Rare Diseases Centre for children as our vision is to build on the excellent care we provide to our rare diseases patients. We aim to do this by using our expert clinical knowledge and our skilled research teams to become an international centre of excellence for rare diseases. 

Please help us light the way for children with rare diseases. With your support, we could provide them with coordinated care, treatment and support, but most importantly hope. To support our Star Appeal visit the web page or text STAR to 70800 to donate £5 (standard network rates apply).

Some facts about rare diseases

• The definition of a rare disease is a condition that affects less than five in 10,000 of the general population
• One in 17 people will be affected by a rare disease at some point in their life, this amounts to approximately 3.5 million people in the UK
• Seventy-five percent of rare diseases affect children
• Thirty percent of rare disease patients will die before their fifth birthday
• There are 6,000 to 8,000 recognised rare diseases
• A single rare disease may affect up to about 30,000 people. The vast majority of rare diseases will affect far fewer than this – some will affect only a handful, or even a single person in the whole of the UK
• Eighty percent of rare diseases have a genetic component
• Often rare diseases are chronic and life-threatening
• Rare diseases can be single gene, multifactorial, chromosomal or non-genetic
• Well-known rare diseases include Cystic Fibrosis and Huntington’s disease, but there are many lesser-known conditions such as Epidermolysis Bullosa and Lysosomal Storage Disorders

What happens at Birmingham Children's Hospital?

As a specialist paediatric centre, we are proud to provide children with rare diseases with a multi-professional patient-focused approach. This means our teams work closely together to meet the needs of our children and their families in the best way possible.

Read more about our 11 nationally commissioned rare diseases

At Birmingham Children’s Hospital, we are also taking part in the innovative 100,000 Genome Project which is recruiting children and families affected by rare diseases for which we have not yet found an underlying genetic or other problem. If you are interested in taking part, please contact your consultant or our Roald Dahl Genetics Nurse Specialist Sian Bicker.

Our health professionals and researchers are also committed to improving the quality of life for our children through research, to find new treatments and hopefully cures. On our website, you will be able to see which clinical trials we are currently running and find information about some of our rare disease specialists’ academic work.

We are also very proud to be working with the National Institute for Health Research (NIHR) on the Rare Disease Translational Research Collaboration project, under the leadership of Professor Tim Barrett who is the Director of our Clinical Research Facility as well as Consultant Paediatric Endocrinologist.

If you would like to be treated at Birmingham Children’s Hospital please ask your GP to make a referral. We accept the referral of children and young people aged up to 16 via their GP or local hospital.


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