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Lyme Disease

Lyme is a multi-systemic and multi infective disease which is not accepted or recognised in Australia. Lyme disease is an infection caused by a bacteria (spirochete) that infects humans from the bite of ticks which are infected with the bacteria. Lyme Disease is...

Multiple Sclerosis

Multiple Sclerosis (MS) is a chronic, neurodegenerative condition that affects the Central Nervous System (CNS). The body’s own immune system appears to attack the protective sheath of fatty protein, called myelin, which surrounds the nerves in the brain, spinal...

Albinism

Albinism is a genetic condition mainly affecting sight and skin.

Fragile X

Fragile X Syndrome (FXS) is a genetic condition causing intellectual disability, behavioural and learning challenges and various physical characteristics. It is also the most common single gene cause of autism worldwide. It appears in people of all ethnic, racial and...

Immune Deficiency

An immune deficiency is also commonly referred to as an immune disease, immune disorder or immunodeficiency. An Immune Deficiency is a disorder where the immune response is reduced or absent. Primary Immune Deficiencies (PIDs) are caused by defects in the genes that...

Hirschsprung’s disease

Hirschsprung’s disease is a blockage of the large intestine. It occurs due to poor muscle movement in the bowel. It is a congenital condition, which means it is present from birth.

Noonan syndrome

Noonan syndrome is a genetic condition that usually includes heart abnormalities and characteristic facial features. About one third of affected children have mild intellectual disability. Noonan syndrome varies from relatively mild to severe. In some cases, the...

Homocystinuria (HCU)

Individuals affected by homocystinuria suffer major multi-systemic disorders, including mental retardation, dislocation of the lens of the eye resulting in blindness if untreated, seizures, osteoporosis, heart attack and stroke. As a whole, the complications of the...

Congenital Diaphragmatic Hernia

Congenital Diaphragmatic Hernia (CDH) is the absence of the diaphragm or more commonly the presence of a defect in the diaphragm, which can lead to abdominal contents, including the stomach, intestine, liver and spleen can be displaced in the chest cavity, meaning...

GAPPS

Gastric Andernocarcinoma and Proximal Polyposis of the Stomach (GAPPS) is an inherited disorder. At this stage it only affects members of a large Australian family, all descended from Matthias Powell. It is characterised by a growth of gastric polyps which have a risk...

Pompe Disease

Pompe disease is an ultra-rare disease and is caused by deficiency or total lack of the enzyme acid alpha glucosidase. This enzyme is responsible for breaking down excess glycogen which normally accumulates in the muscles. As the Pompe patient is deficient in this...

Bertolotti’s syndrome

Bertolotti’s syndrome is a rare disease relating to an enlargement of transverse process of a vertebra leading to chronic back pain. This is a congenital disease and onset of the pain is usually delayed until the 30s. It can also have effects on the sacroiliac...

Cri Du Chat syndrome

Cri Du Chat syndrome results from the loss or deletion of a significant portion of the genetic material from the short arm of one of the pair of number five chromosomes. It is a relatively rare genetic condition with an estimated incidence of between around 1:25000 to...

Myasthenia Gravis (MG)

Myasthenia Gravis is a chronic autoimmune disease characterised by varying degrees of weakness of the skeletal (voluntary) muscles of the body. The name ‘myasthenia gravis’, which is Latin and Greek in origin, literally means “grave muscle...

Creutzfeldt-Jakob disease (CJD)

Creutzfeldt-Jakob disease (CJD) is a rare, fatal and degenerative brain disease (the central nervous system). CJD is one of a group of diseases known as transmissible spongiform encephalopathies (TSE) or prion disease.

Anorectal Malformation

Anorectal malformations are defects that occur during the fifth to seventh weeks of fetal development. With these defects, the anus (opening at the end of the large intestine through which stool passes) and the rectum (area of the large intestine just above the anus)...

Disorder of the corpus callosum

A disorder of the corpus callosum means that the corpus callosum may not have formed properly or may be completely absent. It is known as a DCC or ACC (genesis of the CC). The corpus callosum is made up of over 200 million nerve fibres and joins the two halves of the...

Arnold Chiari Malformation

Arnold Chiari Malformation also known as Chiari Malformation. The Chiari malformation is usually present at birth, but can develop later in association with some tumours and spinal abnormalities.

Cancer

Cancer is a disease of the body’s cells. Normally cells grow and multiply in a controlled way, however, if something causes a mistake to occur in the cells’ genetic blueprints, this control can be lost. Cancer is the term used to describe collections of...