Autism Spectrum Disorders
Autism Spectrum Disorders (ASDs) represent a broad group of developmental disorders characterized by impaired social interactions, problems with verbal and nonverbal communication, and repetitive behaviours or severely limited activities and interests.
Arthritis
Rheumatoid Arthritis is a chronic autoimmune disorder principally affecting synovial tissues. Half of the risk for RA is believed to be genetic (genes PTPN22 and PADI4), so family history is considered an important risk factor.
Cancers
Cancer is the leading cause of premature death in Australia, kills more than 36,000 people annually; 88,000 new cases of cancer are diagnosed each year. Over 3000 men die of prostate cancer annually, and over 3000 women die from breast cancer.
Crohn’s disease
Crohn’s disease is an idiopathic (of unknown cause) chronic inflammatory disorder of the bowel, with complications which can include anaemia, arthritis, skin problems, kidney or gall stones, liver disease. It can also run in families. About 20 percent (1 in 5) of people who have Crohn’s disease have a blood relative with some form of inflammatory bowel disease, usually a brother or a sister, and sometimes a parent and child.
Hemophilia
Hemophilia is a bleeding disorder that slows down the blood clotting process. Hemophilia occurs more commonly in males than in females – people who have hemophilia often have longer bleeding after an injury or surgery. In severe hemophilia A and B, the most frequent symptom is spontaneous joint bleeding but other sites of bleeding include the bowel, the brain and soft tissues.
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Hemophilia is a bleeding disorder that slows down the blood clotting process. Hemophilia occurs more commonly in males than in females – people who have hemophilia often have longer bleeding after an injury or surgery. In severe hemophilia A and B, the most frequent symptom is spontaneous joint bleeding but other sites of bleeding include the bowel, the brain and soft tissues.
Autism Spectrum Disorders
Autism Spectrum Disorders (ASDs) represent a broad group of developmental disorders characterized by impaired social interactions, problems with verbal and nonverbal communication, and repetitive behaviours or severely limited activities and interests.
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Hemophilia
Hemophilia is a bleeding disorder that slows down the blood clotting process. Hemophilia occurs more commonly in males than in females – people who have hemophilia often have longer bleeding after an injury or surgery. In severe hemophilia A and B, the most frequent symptom is spontaneous joint bleeding but other sites of bleeding include the bowel, the brain and soft tissues.
Heart Disease
Heart Disease is the number one killer of Australian women. More than 11,000 women lose their lives to heart disease each year and approximately 226,000 women are living with it. Despite this, eight out of 10 women remain unaware of this alarming threat.
Klinefelter Syndrome
Klinefelter Syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility – it is found in about 1 out of every 500-1,000 newborn males. Most often, Klinefelter syndrome is the result of one extra X chromosome (written as XXY) – this additional sex chromosome results from a random error during the formation of the egg or sperm.
Muscular Dystrophy
There are a number of different muscular dystrophies, some of which are hereditary. Generally symptoms include progressive muscle weakness of the legs and pelvic muscles, which is associated with a loss of muscle mass (wasting). This muscle weakness causes a waddling gait and difficulty climbing stairs. Muscle weakness also occurs in the arms, neck, and other areas.
Parkinson’s Disease
Parkinson’s Disease (PD) is a neurological condition that typically causes tremor and/or stiffness in movement. The condition affects about 1 to 2 percent of people over the age of 60 years and the chance of developing PD increases as we age. Most people affected with PD are not aware of any relatives with the condition but in a number of families, there is a family history.
Sickle Cell Anemia
Sickle cell disease is one of the most common inherited blood disorders in the World. A baby born with this disease inherits a gene for the disorder from both parents – causing a mutation in the haemoglobin-Beta gene found on chromosome 11 so haemoglobin molecules stick to one another and become stiff, assuming a sickle shape – blocking & damaging vital organs and tissue.
Spinal Muscular Atrophy
Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness. Spinal muscular atrophy (SMA) is the second leading cause of neuromuscular disease. It is usually inherited as an autosomal recessive trait (a person must get the defective gene from both parents to be affected). Spinal muscular atrophy affects 1 in 6,000 to 1 in 10,000 people.
Thalassemia
Thalassemia is actually a group of inherited diseases of the blood that affect a person’s ability to produce hemoglobin, resulting in anemia. Haemoglobin is a protein in red blood cells that carries oxygen and nutrients to cells in the body. About 100,000 babies worldwide are born with severe forms of thalassemia each year. A child who inherits two thalassemia trait genes – one from each parent – will have the disease.
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Jane Doe
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