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Blood disorders result from the defects in the blood vessels or from abnormalities in the blood itself. There are different types of blood disorders such as Haemophilia, an inherited bleeding disorder in which the blood fails to clot normally; Anaemia, a condition which occurs when there is an abnormally low amount of red blood cells.

Haemophiliacs lack a specific clotting factor (usually “Factor VIII”) in their blood. They bleed easily and for a longer time even with very minor or no trauma at all. Their daily physical activities are therefore severely limited. They require an injection of this very expensive clotting factor to stop any bleeding, especially if they have sustained an injury.

The most common blood disorder in Club Rainbow is Thalassaemia Major, which is an inheritable blood disorder that occurs due to the inability of the body to manufacture normal haemoglobin, a protein housed in the red blood cells, which is needed to carry oxygen. As a result, insufficient oxygen is carried to many organs in the body. A child with TM may be normal at birth but usually suffers from severe anaemia in infancy. With this the child can develop heart failure that may be life threatening if not treated promptly. In the long run, the child will have a stunted growth and eventually, multi-organ failure. The TM child requires frequent and regular blood transfusions on a long-term basis to correct his/her anaemia. However, as a result, iron gradually accumulates in various parts of the body, causing multi-organ dysfunction such as heart failure, diabetes mellitus, liver damage and delayed puberty. To remove the excess iron from the body, the child has to be on a long-term, almost daily, expensive medicine, such as Desferral. The only hope of a possible cure is a bone marrow transplant which costs about S$150,000 on average, and is not without risks as well.

Biliary Atresia (BA) is a disease characterised by the absence of bile ducts, which normally drain bile from the liver to the intestines. The incidence of BA in Singapore is estimated to be 1 in 8,000. An infant with BA needs to undergo a surgical procedure – a Kasai operation – as early as possible. The Kasai operation aims to connect part of the intestine to the liver’s bile ducts so that the flow of bile from the liver to the intestine is re-established. Without surgery, about a third of the patients will not survive more than 18 months. With the Kasai operation, another third may survive early childhood, but may develop liver failure later, eventually requiring a liver transplant. A liver transplant costs between S$100,000 and S$150,000 and carries with it, it’s own set of complications and risks.

Congenital Heart Disease (CHD) with its incidence of approximately 6 – 8 per 1000 live births, is the single most common major congenital abnormality. This is a defect in the structure of the heart and great vessels of a newborn. Most heart defects either obstruct blood flow in the heart in an abnormal pattern. The more severe cases are the “blue babies”. Many will require some form of surgical correction and without treatment, the majority of the children with severe forms of CHD will die before adolescence. However, the situation has improved thanks to the advances in medical and surgical care during childhood, and a majority can expect to survive into adulthood. Nevertheless, many of these children continue to suffer from poor health and a poor quality of life, especially since not all heart defects can be cured by surgery.

Prematurity is a common problem in Singapore. The incidence of infants born with very low birth weight (less then 1500g) is about 1 to 1.2% of all live births. A newborn is considered premature if born before 37 weeks of gestation. With the advent of medical sciences, babies as early as 24 weeks of gestation can be saved. However the more premature they are, the more complications they will face as their organ systems are not sufficiently developed to allow them to face the life in the outside world. Most of these babies will encounter various combinations of respiratory, cardiovascular, neurological, visual and nutritional problems.

Spina bifida occurs in approximately 1 in 5000 pregnancies. It is a birth defect due to incomplete closure of the foetal neural tube during the first month of pregnancy. This results in abnormal development of the spinal cord and, often, a part of the brain as well. Babies with spina bifida are born with part of the spine exposed, over which there may be a lump of tissue, hair, or area of abnormal pigmentation.

Significant damage to the nerves and spinal cord occurs, resulting in varying degrees of paralysis and bladder or bowel incontinence. In addition, fluid may build up and cause an accumulation of fluid in the brain (hydrocephalus). The degree of physical handicap depends upon the level at which the spinal cord is affected. The problems cannot be reversed even after surgical correction and closure of the spinal lesion. An infant with the most serious form of spina bifida has to be operated on within two or three days of birth to prevent infection and further spinal chord damage. Most of these children will have to depend on crutches or wheelchairs to get around.

A genetic disorder is a disease caused by abnormal expression of one or more genes in a person. There are a number of possible causes for genetic defects. It may be caused by a mutation in a gene, affecting its function; or by an abnormal chromosome number, and other causes. The vast majority of these disorders are quite rare and affect one person in several thousands or millions. The group is composed of different kinds of genetic disorders such as Williams Syndrome, Achondroplasia, Pradar Willi and Velocardiofacial Syndrome.

 

In ITP, the platelets in the blood are destroyed faster than they can be replaced by platelets produced by the bone marrow. With a shortage of platelets, the child is prone to bruising and bleeding. The danger is when the child develops a bleed in the brain, or bleeding in the internal organs after a relatively minor fall.

The bone marrow is responsible for the production of 3 main cell lines: red blood cells, white blood cells and platelets. Various immune problems or external triggers can cause a child’s bone marrow to fail to produce either all or a certain type of blood cells: (a) low red blood cells (anaemia) – without these oxygen-carrying cells, the child will appear pale, lethargic or even breathless; (b) low white blood cells (neutropenia) – without these germ fighters, the child will be prone to severe life-threatening infections because of a weak immune system. (c) low platelets (thrombocytopenia) – without these for blood coagulation, the child will suffer from easy bruisability and bleeding.

Children as young as infants can develop kidney failure. When the kidneys fail to excrete unwanted toxic metabolites and excess water at a sufficient rate, both fluid and dangerous waste products accumulate in the body. When the kidneys completely cease to function, the child is in end stage renal failure (ESRF) and requires lifelong dialysis, unless a kidney transplant can be arranged.

This is a disease involving the kidneys in which there is leakage of a large amount of proteins from the kidneys into the urine. This results in a disruption in the distribution of the body’s fluid balance and a child with Nephrotic Syndrome will appear swollen in the face, abdomen and the limbs due to fluid accumulation. Most will require long-term steroid medication and many will suffer from their side effects.

Hypothyroidism means that the patient has inadequate thyroxine, a hormone responsible for normal metabolic and organ functions. This can be due to either congenital or acquired causes. If untreated, patients may suffer from slow mentation, a slow heartbeat, poor growth and coarse facial features. Thyrotoxicosis is the opposite of hypothyroidism in which there is an over-production of thyroxine. They usually present with irritability, deterioration in school performance, loss of weight despite a good appetite, excess sweating, palpitations and nervousness. There may also be a prominent thyroid gland appearing as a lump at the neck.

A child with asthma has a hyper-reactive bronchial airway that goes into spasms and produces copious secretions. This will cause airway obstruction, resulting in wheezing and breathlessness. With appropriate treatment, many people with asthma live a near normal life with minimal lifestyle restrictions. However, there are a number of children who have severe chronic asthma. They cough and wheeze frequently, especially when exposed to certain environmental triggers (such as dust and cigarette smoke) and even with just physical exertion, for some of them.

IDDM is a disease in which the body does not produce a sufficient amount of a hormone, produced by the pancreas, called insulin. This hormone is necessary to control the body’s sugar (glucose) level and this lack of insulin results in a high blood glucose level. This causes multi-system disturbances in the body, eventually affecting the skin, nerves, blood vessels and eyes, especially if the blood sugar is not well controlled. The child with IDDM usually presents with excessive thirst, frequent passing of urine and rapid weight loss. If not detected and treated early, they may deteriorate further into Diabetic Ketoacidosis (DKA), which is a medical emergency, and may even slip into a coma. These children require daily long-term treatment with multiple insulin injections, and frequent finger pricks to monitor their blood sugar. However, despite treatment, both short and long term complications may still arise.

This refers to problems inherent in the muscles, which in turn affect a child’s ability to move. There is a spectrum of disorders, with one of the most severe being Duchenne’s Muscular Dystrophy (DMD). Some affected children have never learnt to walk, while some gradually get weaker and lose their ability to even stand or walk. Most of them are either wheelchair-bound or bedridden. As a result of prolonged immobilisation, these children may develop pressure sores, muscle contractures and wasting, and spinal deformities over time. One of the most severe complications is when they become too weak to even use their muscles to breathe adequately and eventually enter into respiratory failure. Without proper respiratory support, many at this stage will suffer from frequent chest infections and eventually succumb to this illness.

Inflammatory Bowel Diseases, such as Crohn’s disease and Ulcerative Colitis, are characterized by inflammatory changes in the gut, resulting in symptoms such as chronic diarrhoea, which may be bloody, painful or contain mucus; frequent abdominal pain; malabsorption of food causing severe weight loss, inadequate nutrition and poor growth. The onset of illness usually occurs in older children. There is no known cause for the disease. Most will require long-term medication.

{yahoojp}2017-06-24 {clubrainbow.org}