SAS Urban Survival Handbook (121 page)

Traits for genetic disorders may be carried by either parent. Sometimes, through mutation of the genetic material, a child can be born with a disorder that has never been seen in the family before. Whatever the origin of the condition a person may inherit, it may directly affect their health, their fitness and susceptibility to disease throughout their life.

When considering having children, couples with known genetic disorders, or who have genetic problems in their family history, should seek medical advice about the likelihood of disorders occurring in their children.

The couple may find professional counselling of great help. This is obviously an emotionally-traumatic situation and professionals are able to help with the short- and long-term problems that may arise. They are also in a position to provide support over time and instigate communication with many counselling groups.

This is by no means a comprehensive list of ‘inheritable’ diseases—but indicates how serious and complex they may be.

CYSTIC FIBROSIS

Cystic fibrosis may be evident from birth, although it may not be detected for months or even years. It is caused by a defective gene. The main manifestations are repeated infections of the lungs and the failure of the body to make use of food. A child may ‘fail to thrive’. A sticky mucus secretion, may be present in the nose and throat, the air passages and sometimes in the intestines. Faeces may be pale, shapeless and strong-smelling. Males and females may later suffer from infertility.

Early diagnosis and treatment are VITAL to avoid complications like pneumonia, bronchitis and lung damage. Antibiotic drugs and physiotherapy can be of great help.

A special protein-rich, high-calorie diet should be devised with added vitamins to encourage the digestive system to function more normally. Current medical care means that, although there is still a risk of permanent lung damage, the quality of life for those affected is now far higher than it would have been a few years ago.

HAEMOPHILIA

A disorder caused by a deficiency of a blood protein, known as factor VIII, which is essential to blood clotting. Haemophilia is the result of a defective gene, carried by females but almost always passed on to males.

Haemophiliacs tend to experience recurrent bleeding, not always caused by injury, usually into the muscles or joints. Bleeding episodes may be painful, although the severity varies greatly.

Early diagnosis and control of severe bleeding episodes is vital to avoid crippling deformities of the joints. Bleeding is usually controlled with concentrates of Factor VIII, either as a preventative measure or as treatment when bleeding has just started.

Being a genetic disorder, it’s quite likely that a haemophiliac will have a close male relative also suffering from the condition (although in a third of cases there is no history of it). Haemophiliacs and their female relatives should seek genetic counselling before starting a family. Haemophiliacs should avoid strenuous contact sports and opt instead for gentler forms of exercise, such as walking and swimming.

HUNTINGTON’S CHOREA

A rare inherited disorder affecting the central nervous system, manifesting itself in middle age. There is a 50-50 chance that a parent may transmit the relevant gene to a child.

When the condition becomes apparent, walking, speaking and hand movements gradually become difficult. Spasmodic and jerky movements may escalate, possibly followed by mental deterioration and severe behavioural problems—often requiring hospitalization.

There is no known treatment, though tranquillizers may calm the nervous system. Genetic counselling is essential for those at risk, if they intend to start a family.

MUSCULAR DYSTROPHY

A muscle disorder of unknown cause. Muscular dystrophy may appear at birth, in infancy or as late as the child’s fifth or sixth year. The most common form is duchenne muscular dystrophy, the result of a recessive gene that is carried by females and passed to males.

Once the disorder becomes apparent, there may be a slow but progressive degeneration of the muscle fibres. It is usually diagnosed by the patient’s appearance and movements.

As yet there is no ‘cure’ for muscular dystrophy, although many cases benefit from surgery to the heel tendons to improve walking ability. The affected person should be encouraged to remain physically active, to keep healthy muscles in ‘working order’. They should avoid becoming overweight. The parents and brothers or sisters should seek counselling before having more children or starting a family.

SICKLE-CELL ANAEMIA

A blood disease, occurring mainly in black people and, sometimes, in people of Mediterranean origin. It causes the red blood cells to become abnormal, resulting in a life-threatening form of anaemia. In the UK alone, about one in 200 people of West Indian origin and one in 100 of West African origin have the disease. Approximately one in ten has the trait (in other words, carries the disease), which may be passed on when two carriers have a child.

The first signs—shortness of breath after exertion, jaundice, pallor, headaches and fatigue—may appear after the age of six months. The symptoms may be triggered by a childhood illness, dehydration as a result of prolonged diarrhoea and vomiting, or very cold weather.

Sickle-cell anaemia attacks various parts of the body. Children may experience pains, ‘tender’ bones, and blood in the urine from kidney damage. Brain damage may cause seizures, unconsciousness or stroke. Some children may develop a life-threatening form of anaemia. From puberty there is a risk of blood poisoning, if the spleen stops working. There is also an increased risk of pneumonia. Treatment includes immunization against pneumonia, and penicillin, antibiotic drugs, painkillers and folic acid supplements.

People who do not know whether or not they carry the sickle-cell gene MUST find out. A couple who both carry the gene or have the disease should obtain counselling before having children. Although the survival rate in under five-year-olds is still poor, improved methods of treatment have increased the chances of longer-term survival. Thirty years ago the disease was usually fatal to children. Today, some sufferers are able to have children of their own.

BACK/JOINT PAINS

The most common causes of ‘time off work’ are musculoskeletal strains, which include back pain and sports injuries. These warrant a visit to the doctor and may be soothed by painkillers and alleviated by physiotherapy. Some resolve themselves, spontaneously. Most back strains can be avoided, by not overstraining when lifting heavy weights—keep your back straight and bend your legs when you must move weighty objects.

RHEUMATOID ARTHRITIS

More common in women than in men, it may begin insidiously and can lead to joint deformity. Most of the connective tissues may be affected, but the worst damage is usually done to the joints.

SYMPTOMS
Stiffness, pain and swelling in the small joints of the hands and feet, followed by problems with the larger joints, such as hips and knees. There may be diminished movement of the joints and muscle wasting. Tissues round the joint may become inflamed. Many of the internal organs may be affected, including the lungs, heart, kidney and eyes. The central nervous system is also at risk.

ACTION
Seek medical attention to reduce the pain. Anti-inflammatory drugs, physiotherapy and (very rarely) steroids may help. The best advice is to start treatment early to head off the risks of disability.

OSTEOARTHRITIS

Affects almost everyone past the age of 65. There is a degeneration of the joint surfaces, especially where there has been a previous injury or deformity. The incidence increases with age and obesity. Women tend to be more prone to the disease than men.

SYMPTOMS
Pain is induced by movement, particularly in the evenings. Small joints of the hands are the first to become affected, in most cases, but may be followed by pains in the spine, knees and hips. As the condition progresses, there may be stiffness, immobility and even joint deformity.

ACTION
Reducing the pain is the first priority. It may be necessary to use a walking stick or walking frame to reduce pressure on the joints. If the feet are affected, there are special shoes which may make walking easier. If overweight, weight loss would be advisable. In serious cases, joints may be fused or replaced surgically.

RESPIRATORY PROBLEMS

Respiration is the process by which oxygen reaches body cells and carbon dioxide is emitted from the body. Although it may seem simple, it involves a highly complex set of organs which are prone to disease, damage and infection. Respiratory disorders can affect the air passages, causing obstruction, or affect the lung tissues.

If there is no apparent external cause for severe breathing difficulties—airborne dust, fumes or a crushing injury—there are several other immediate possibilities. If the victim is not actually choking (see
Save a life!
) and does not have a history of respiratory illness, seek urgent medical attention, especially if blood is coughed up. The cause may be:

Oedema
A dangerous build-up of fluid in the lung. This is most likely if the person is already ill with heart disease or kidney failure. Certain drugs, such as steroids, or hormone therapy may also cause fluid misplacement in the body. Seek urgent medical attention.

Pulmonary embolism
Severe difficulty in breathing, dizziness, sharp pain in the chest when breathing, blood coughed up, rapid pulse rate may indicate that a small blood clot is restricting the flow of blood between the heart and lungs. Tends to affect women—after pregnancy or after surgery. Seek urgent medical attention.

Ventricular failure
Most likely to occur when there is a severe problem with the heart, causing fluid to build up in the lungs. The heart would be treated first in this sort of emergency. Seek urgent medical attention.

ASTHMA

Bronchial asthma is a very distressing condition, normally associated with childhood—although it may persist into adulthood. Characterized by recurrent attacks of breathing difficulty, usually with wheezing. Most asthmatics have their first attack when they are small children—but it is possible for asthma to develop later in life.

SYMPTOMS
Include mild or acute breathlessness, panicky wheezing, apparent inability to breathe in, coughing, sweating, inability to speak, rapid pulse and great anxiety. In rare cases, the attack may be severe enough to cause a blue facial pallor. Such an attack may be life-threatening. Seek urgent medical attention.

ACTION
Most asthmatics carry medicines, usually in the form of an inhaler. They may need help to use the inhaler. It consists of a small aerosol with a mouthpiece. It is usually necessary to take two full puffs. The drug should dilate the constricted bronchioles in the lungs in 15 minutes—allowing air to enter the lungs. If the attack has been unusually severe, seek medical attention.

REMEMBER
Some farms of asthma may be due to external causes, such as breathing in a harmful substance or a substance to which the person is particularly sensitive. There may not be any history of attacks. Many asthmatics have common allergies, such as hay fever or sensitivity to house dust. Attacks may be brought on by anxiety, stress or sudden emotional upset. Most ‘grow out of’ the condition by their early twenties. Even if the condition persists, there are very effective therapies and treatments.

PNEUMONIA

Inflammation of the lungs due to an infection, usually carried by viruses or bacteria.