A rare disease is defined as a condition which affects fewer than 1 in 2000 people. Over 7,000 rare diseases have been discovered , affecting both young and old people and all ethnic groups. A rare disease can affect any body system , with many rare diseases causing multiple health problems or birth defects and other symptoms such as learning or behaviour problems. Rare diseases may have many causes with many having a genetic basis. Diagnosing rare diseases may be difficult, however, especially if healthcare professionals have little experience with the disorder in question.
Individuals with rare diseases and their parents usually have many questions including “What is the diagnosis? Can it be treated or cured? What caused it? Where can I find more information?”. Doctors looking after rare disease patients have questions, too. They want to know how to investigate and treat the disorder and what information they can give to parents. Our work in Manchester Centre for Genomic Medicine is focussed on answering all of these questions. As experts in rare diseases we also see many patients from outside our region and some from overseas. This has helped us to build up a comprehensive picture of how a rare disease can affect someone throughout life, information which we can then pass on to patients. We accept referrals from GPs, other doctors involved in a patient’s care and some other health professionals.
In order to provide the best care for rare disease patients we work with colleagues in different specialties to guide management and healthcare according to the best evidence that exists from research and published literature. One way in which we do this is through our multidisciplinary Rare Disease Clinics. We have established clinics for Tuberous Sclerosis, CHARGE syndrome, Angelman Syndrome, Rett Syndrome, Neurofibromatosis, Kabuki Syndrome and other Chromatin Disorders. We also run specialist clinics for patients with rare eye diseases, genetic kidney problems and skeletal dysplasias. In many of these clinics we work with patient support groups and parents to ensure we are meeting the needs of patients and offering services that they find useful. We have regular clinics and case review meetings for patients with rare undiagnosed disorders, and can offer a number of different diagnostic tests, including Gene Panel Tests and Clinical Exome Sequencing. We regularly meet with specialists from the UK and overseas to share expertise and opinions, providing the best chance of diagnosis for our patients.