Rare Diseases

UK sources of information and / or support

Patient UK has an extensive directory of self help and support groups, many of which provide support and information about rare conditions. Other useful sites include:

 Contact a Family

A major UK charity providing support and advice to parents whatever the medical condition of their child. Their directory of diseases also provides information on a large number of conditions, many of which are rare.

 Rare disorders

A section of the 'Contact a family' website giving lots of information on rare conditions.

 Genetic Interest Group (GIG)

A national alliance of organisations with a membership of over 120 charities which support children, families and individuals affected by genetic disorders / genetic diseases. Its primary goal is to promote awareness and understanding of genetic disorders so that high quality services for people affected by genetic conditions are developed and made available to all who need them.

 Rare Cancer Alliance

The primary purpose of the organization is to disseminate information and provide support to rare cancer patients. Most members are rare cancer patients themselves, who have had to go through the process of wading through the information (or lack of information) on the internet for their rare cancer

 Unique - Rare Chromosome Disorder Support Group

Unique is a source of information, mutual support and self-help to families of children with any rare chromosome disorders including deletions, trisomy, balanced translocations, unbalanced translocations, rings, inversions, duplications, tetrasomy, monosomy, triploidy, isodicentric, marker, mosaic, sex chromosome aneuploidy (eg 47, XXX 47, XYY 48, XXXX 49, XXXXY etc) etc.

 Orphanet

Orphanet is a database of information on rare diseases and orphan drugs. Its aim is to contribute to the improvement of the diagnosis, care and treatment of patients with rare diseases. Orphanet includes a professional encyclopaedia, which is expert-authored and peer-reviewed, a patient encyclopaedia and a directory of expert services. This directory includes information on relevant clinics, clinical laboratories, research activities and patient organisations.

 British Paediatric Surveillance Unit

Aimed at health care professionals, but may be of interest to the general public. The BPSU coordinates the surveillance of uncommon childhood disorders and writes reports on them. Current studies include:

• Cerebral vascular disease, stroke-like illness
• Congenital cytomegalovirus
• Congenital rubella
• Congenital toxoplasmosis
• HIV/AIDS infection in childhood
• Invasive fungal infections in low birthweight infants
• Internal abdominal injuries in children under 14 years
• Progressive intellectual and neurological deterioration in children (PIND)
• Suspected fatal adverse drug reaction
• Thrombosis in childhood
• Varicella (chickenpox) complications
• Vitamin K deficiency bleeding

Completed studies include:

• Acute Flaccid Paralysis
• Acute Rheumatic Fever
• Adverse neonatal outcomes of delivery or labour in water
• Androgen Insensitivity Syndrome
• Biliary Atresia
• Cerebral oedema / death following DKA
• Chemistry set poisoning
• Congenital brachial palsy
• Congenital cataract
• Congenital dislocation of the hip
• Congenital syphilis
• Congenital toxoplasmosis
• Drowning and near drowning
• Encephalitis in early childhood
• Fatal severe allergic reactions
• Galactosaemia
• Group b streptococcal disease
• Haemophagocytic Lymphohistiocytosis
• Haemorrhagic disease of the Newborn
• Haemorrhagic shock encephalopathy syndrome
• Haemolytic uraemic syndrome
• Hepatitis C virus (HCV) infection
• Higher order births
• Insulin dependent diabetes melitus
• Inflammatory bowel disease in under 20-year olds
• Invasive Haemophilus influenzae infection
• Insulin dependent diabetes in under fifteens
• Juvenile dermatomyositis
• Kawasaki disease
• Long term parenteral nutrition
• Lowe syndrome
• Measles, mumps, rubella-meningococcal meningitis
• MCAD
• Neonatal Herpes
• Neonatal meningitis
• Neonatal necrotising enterocolitis
• Non-accidental poisoning/ Muünchhausen syndrome by proxy
• Pyrodoxine dependent seizures
• Rett syndrome
• Reye's syndrome
• Severe visual impairment / blindness
• Subacute sclerosing panecephalitis
• Subdural Haematoma / effusion
• Transient and permanent neonatal diabetes
• Vitamin K deficiency bleeding
• X-linked anhydrotic ectodermal dysplasia

Further sources / more detailed information

Some non-UK sites

The following list popular non-UK health information sites with content aimed at the general public. They are mainly from the US. They have not been checked to see if information about the above topic is included but these large sites are comprehensive.

• Non-UK disease / illness sites
• Non-UK self-help / support group sites

More detailed medical information

The following list online sources of more detailed medical information, mainly from the UK. These sites are mainly aimed at health professionals, but are of interest to all. They have not been checked to see if information about the above topic is included, but information about most medical topics can usually be found.

• PatientPlus - hundreds of medical reference articles provided by Patient UK.
• Evidence Based Medicine - such as from Clinical Evidence, The Cochrane Library, etc.
• Database of UK Clinical Guidelines - from NICE, SIGN, Clinical Knowledge Summaries, etc.
• Medline - abstracts available from thousands of journals.
• Sites listing free online medical textbooks and journals.
• Sites listing free medical images - pictures, atlases, anatomy, skin diseases, etc.