Genetic counselling may come from a qualified genetic counsellor but other specialists may also offer advice on genetic issues, including paediatricians, a clinical geneticist or a doctor who specialises in medical genetics.

Services for expectant parents

Genetic counsellors can provide a very valuable service for expectant parents who have received abnormal tests results and told that there is a risk that their baby will be born with a birth defect or genetic disorder. Counsellors may also be beneficial for parents who have a family history of genetic conditions and are weighing up whether or not to have children of their own. Often, expectant parents are given options by medical staff and they can then discuss the options with a genetic counsellor, which can help them reach a decision that they are happy with and find ways of coping with their decision, whether it is continuing or terminating the pregnancy.

Other services

Genetic counselling may be recommended for many people and in some cases patients with a family history of conditions, such as cancer, will be advised to see a genetic counsellor to discuss your options if tests have revealed that you have a high risk of developing the disease.

Training to become a genetic counsellor

There are two main routes to becoming a genetic counsellor: you can either train as a nurse or midwife and then complete a minimum of 90 hours of counselling training and a genetic course (this must include at least 30 hours of training) or you can apply to do a Master’s degree in genetic counselling, with this route aimed at people who have undergraduate qualifications in psychology, genetics, biology or sociology. There are currently two postgraduate programmes recommended by the Association of Genetic Nurses and Counsellors, which are offered by the University of Manchester and Cardiff University.

There are many children in the UK living with physical and mental disabilities. Some children are born with serious health conditions, while some develop disabilities when they get older. There are many different types of disability; these include:

• Physical disability
• Sensory disability, including blindness and deafness
• Mental health disorders
• Learning disabilities
• Chronic diseases and conditions

What kind of help do disabled children need?

Disabilities affect an individual’s ability to carry out everyday activities, which is why disabled children may require more help and support than other children. Children may need help getting washed and dressed, they may need their meals preparing for them, they may need help getting to school and they may need help with their schoolwork. Children with disabilities such as blindness and deafness and physical disabilities may require special living conditions and equipment, which can help them to live more independently.

Children with learning disabilities may need a different kind of help and support. They may need additional help with their school work and activities such as reading and writing. Children with behavioural problems may struggle to deal with their emotions and this may require parents to spend time talking to the child and helping them to find ways of effectively managing their emotions.

Support at school

Disabled children should be given additional help at school to allow them to fulfil their potential, which often comes from special teachers and keyworkers. There are specialist schools for children with disabilities but many parents choose to send their children to mainstream schools. If you have concerns about your child, you should not hesitate to discuss these with the teachers and if you feel that sufficient measures are not being taken to support your child, you can talk to your local authority. Support at school should cater for all aspects of school life, from helping children in wheelchairs to get around the school to helping children who struggle with academic work to improve their reading, for example.

Sports and leisure

Lots of children love playing sport and getting involved in exercise but this can be difficult for children with disabilities. Schools and community facilities should take steps to promote inclusion and make sport accessible to disabled children. Nowadays, there are many different activities and sports that are geared towards children with disabilities and many communities now have their own disabled teams and clubs. At school activities should be inclusive and children with disabilities should be encouraged to join in and have fun; sport has a range of benefits and it can be a really successful way of integrating disabled children and teaching other children about disabilities and how they affect people.

Support for parents

As well as financial support, which is available from the government, there is also emotional support and advice available from different charities and organisations for parents of disabled children. Caring for a disabled child can be very difficult, especially if they have a condition which requires round the clock care. If you are struggling or you simply want to find out about disabilities or talk to somebody about how you feel and what you are going through you can contact Carers Direct or Parentline Plus. There are also community support groups where you can go to talk to other parents and share your experiences; for details of these services, you can go to the government’s DirectGov website.

Common childhood illnesses

Children are prone to illness and most illnesses are fairly mild. Common illnesses amongst children include:

• Colds
• Sore throat
• High temperature
• Chicken pox
• Eczema
• Ear infections
• Glue ear (this is a condition which occurs when there is a build-up of sticky fluid in the middle ear)
• Coughs

If your child has a cough or cold, it is a good idea to keep them off school or nursery for a couple of days to prevent the illness spreading to other children. Chickenpox is also highly contagious and you should keep your child out of school until the spots have scabbed over. This usually takes around 7-10 days, after which they will no longer be infectious.

Treating common illnesses

Colds and coughs are often caused by viral infections and there is no cure, however painkillers (always follow the instructions on the label and check with a GP or pharmacist before giving children painkillers) will help to ease the symptoms and you can strip your child off and dab them with a damp cloth to bring their temperature down. If your child has a very high temperature or they have a temperature which cannot be brought down by medication, you should seek medical help as soon as possible. Many infections, such as ear infections, can be treated using antibiotics. If your child is unwell, do not hesitate to take them to your GP.

Meningitis

Sometimes, illnesses can be very serious and it is important that parents and carers are aware of the symptoms associated with life-threatening conditions, including meningitis. Meningitis is a very serious, potentially life-threatening illness, which occurs when the meninges (the membranes surrounding the brain) become inflamed. Symptoms include:

• Fever (a temperature of over 38 degrees in babies under the age of 3 months and 39 degrees for babies over this age)
• Cold hands and feet
• Vomiting
• Blotchy skin
• Bulging fontanelle (in babies)
• Red or purple spots on the skin (if the spots do not fade or turn white when you place a glass on them, call 999)
• Stiff neck
• Drowsiness and floppiness
• High pitched, persistent cry

If you notice any of these symptoms, it is important to dial 999 as soon as possible. Meningitis should always be treated as a medical emergency.

Preventing illness

It is almost impossible to prevent children from getting ill, and they will often pick up coughs and colds at school or nursery. However, there are steps you can take to reduce the risk of your child getting ill:

• A healthy diet, rich in fruit and vegetables to boost their immune system
• Plenty of exercise to keep them fit and healthy
• Keep your home warm and clean
• Encourage them to cover their mouth when they sneeze and throw away dirty tissues
• Wrap them up warm when they go outside in the cold
• Keep up to date with vaccinations and health check

Each cell in the human body has 23 pairs of chromosomes, with one chromosome from each of the 23 pairs inherited from the father and one inherited from the mother. The chromosomes contain all the genetic information for that individual person and the information is contained in the genes.

Genes are the reason that we inherit characteristics from our parents, for example our hair colour or the colour of our eyes, a highly interesting topic in the area of medical genetics. Sometimes, there are different forms of genes, known as alleles and this is the case when parents have different colour eyes; for example, if one parent has blue eyes and one parent has brown eyes, this means that their child will end up with a brown allele and a blue allele. As brown alleles are dominant, the child will have brown eyes. The blue allele is recessive, which means that a child must inherit a blue allele from both parents to have blue eyes.

Medical genetic conditions can also be passed on through families, which occur when a genetic mutation is passed on from parents to child. Whether or not a child will inherit a genetic condition depends on two factors: whether the gene for the specific condition is dominant or recessive and which genes the child inherits from their parents.

Recessive inheritance

Recessive inheritance means that a child must inherit two copies of a specific gene to have a genetic condition, which means that both parents must have a copy of the mutated or abnormal gene and are therefore carriers. If the child only inherits one copy of the faulty gene, they will be a carrier of the disease but if they inherited two copies of the gene they will have the condition. If both parents carry a copy of a faulty gene, there is a 25 percent chance that their child will suffer from the condition. An example of a recessive condition is cystic fibrosis and if a child suffers from cystic fibrosis, this means that they have inherited a copy of the faulty gene from both of their parents.

Dominant inheritance

Dominant inheritance means that a child must only inherit one copy of a faulty gene to suffer from a dominant condition and if one of the parents has a copy of the faulty gene, there is a 50 percent chance that it will be passed on to their child. Type 1 neurofibromatosis is an example of a dominant condition, which can be passed on if either the father or the mother has a copy of the abnormal gene.

Many different health conditions and disorders have a genetic basis, such as cancer, which is caused by a single mutation in a gene or multiple mutations in a group of genes.

Some genetic disorders are inherited, which means the condition is passed on through a family and the risk of a child being born with an inherited condition is determined by their parent’s genetic information. If both parents are carriers of a disease, there is a high risk of their child being born with that disease.

In some cases, genetic disorders are caused by abnormalities with the chromosomes. A common example of a chromosomal disorder is Down’s syndrome, which is caused by an additional copy of chromosome 21.

Examples of genetic disorders

Chromosomal disorders: examples of chromosomal disorders include Down’s syndrome and fragile X syndrome.

Single gene disorders: these are disorders that are caused by abnormalities with a single gene; examples include cystic fibrosis, Huntington’s disease, sickle cell disease and muscular dystrophy.

Birth defects: many birth defects have a genetic basis; examples include neural tube defects and cleft lip and palate.

Familial cancer: some people have genes which mean that they have a high risk of developing a certain form of cancer, which is why numerous people in the same family may develop a specific form of cancer, for example a mother and her daughters may develop breast cancer.

Testing for genetic disorders

Genetic testing can be carried out for a number of reasons, including:

• if a patient has family history of condition and wants to know if they have a high risk of developing the condition
• if parents want to find out if they are carriers of a disease and there is a risk of passing on the condition to their child
• if a person is worried about family history of cancer
• if a person has medical problems or learning difficulties and doctors suspect that these problems may be associated with a genetic condition

Test results may be given alongside genetic counselling, as the results may not be good news. Genetic counselling is offered by specialists in medical genetics and is available on the NHS.

Genetic testing is a means of finding out if a person is carrying a specific genetic mutation, which is associated with a medical condition. The results of the test will only be useful if the mutation is known to cause a specific condition, with some disorders caused by genetic mutations but the individual mutation not yet identified. In many cases, where the mutation has been linked to a specific medical condition, testing can be used to identify the gene in an individual and this can determine whether they will develop the condition or whether they are a carrier and could pass the condition on if they have a child.

Some disorders are caused by specific mutations, while others are caused by any form of mutation in a gene, which means that some conditions are easier to diagnose than others. Cystic fibrosis, for example, is caused by a small range of mutations, while Marfan syndrome can be caused by hundreds of different mutations in a gene.

Gene sequencing

Gene sequencing is a process of decoding genes using the letters in the DNA code, which can be a very lengthy, time-consuming process. Gene sequencing may be used when a condition like Marfan syndrome is suspected. Scientists in the laboratory have to use gene sequencing to check right through the entire gene, which contains 200,000 DNA letters, to look for any mutations.

Diagnostic testing

Genetic testing can be used to diagnose genetic conditions, determine the risk of developing a genetic disorder and estimate the risk of passing on a genetic disorder. Genetic testing is usually a very simple process, with a blood sample or a tissue sample taken and sent off to a laboratory for analysis. The sample contains DNA, which is an individual’s genetic information. The DNA will be analysed to check for genetic mutations and determine the risk of an individual developing a genetic disorder.

Often the results of genetic tests are given alongside genetic counselling, which is professional advice offered by medical genetics professionals and specialists. Sometimes the results do not represent good news and it is important that patients are given advice and support at this time.

Antenatal and newborn screening

Antenatal screening tests are offered to all pregnant women. Pregnant women do not have to have the tests but they are usually recommended for women over a certain age and those with family history of genetic disorders or inherited conditions. Screening tests are usually carried out during the early stages of the pregnancy and can be used to test for conditions including:

• Down’s syndrome
• sickle cell disease
• thalassaemia
• spina bifida
• cystic fibrosis

The blood spot-screening test is a very simple test, which is carried out on newborn babies. It can be used to test for conditions including:

• cystic fibrosis
• sickle cell disease
• phenylketonuria (PKU)
• medium-chain acyl Co-A dehydrogenase deficiency (MCADD)
• congenital hypothyroidism

Genetic conditions can affect people of all ages and they may affect any system in the body. Medical genetics is concerned with diagnosis of conditions and risk estimation for family members or parents who are thinking of having children.

What is the aim of medical genetics services?

• to promote independence and independent living
• to support people who have been diagnosed with genetic disorders or told that they have a  high risk of developing a genetic condition
• to provide information and advice about treatment options, having a family and many other subjects related to genetic disorders

What are genetic disorders?

Genetic disorders are disorders or conditions caused by abnormalities which affect the DNA. Diseases can be caused by abnormal versions of a gene, known as gene variation or the alteration of a gene, known as genetic mutation. Types of genetic disorder include:

• chromosomal abnormalities
• familial cancer
• single gene disorders
• birth defects

Examples of genetic disorders include:

• cystic fibrosis
• Down’s syndrome
• Turner syndrome
• Duchenne muscular dystrophy
• Huntington’s disease
• neurofibromatosis
• Williams syndrome
• sickle cell disease
• Alzheimer’s disease
• cancer

Working in medical genetics

Clinical geneticists in the UK generally work in specialist regional centres. Their work is different to traditional clinical medicine because of the potential impact of a diagnosis on one or more family members. The work of a clinical geneticist is varied and constantly changes thanks to advances in science and technology. Research into genetics is ongoing and scientists are discovering new things all the time, as the human genome is mapped out. Most of the work undertaken by clinical geneticists involves outpatient treatment. However, sometimes work on wards is required. In order to work in medical genetics, you need a wide range of clinical skills, excellent communication skills and a solid understanding of genetic mechanisms and the human genome map.

Why is exercise important?

Exercise is important for a number of reasons, including a range of health benefits:

• Increased muscle strength and tone
• Improved circulation
• Improved flexibility
• Reduced risk of obesity
• Improved general health (exercise helps to keep the heart and other organs healthy and fit)
• Development of physical fitness and strength
• Improved bone strength

As well as important physiological health benefits, there are other important benefits of exercise:

• Increased confidence and self-esteem
• Reduced anxiety
• Reduced stress levels
• Sense of achievement
• Social opportunities – the chance to meet new friends and spend time with other children
• Important life lessons – sport has many important life-lessons, such as playing by the rules, working as a team, leadership, learning to lose gracefully and being a good sport
• Positive way to release energy and frustration or anger

How much exercise should my child be doing?

The Department of Health recommends 60 minutes of moderate exercise per day for children. This does not necessarily have to include sports lessons, as it can also include going to the park, walking the dog and playing in the garden. The 60 minutes do not have to be completed in one go. This is a daily guideline so a child may run around for 15 minutes at break, play football for half an hour and them come home and play in the garden for 15 minutes.

Activities and sports for children

There is now huge scope for children in terms of sport and leisure activities. Facilities have improved over the years and many communities now have their own sports teams and children’s sessions at the local swimming pool, as well as a number of different clubs and classes. Children can now participate in everything from football and tennis to judo and salsa dancing. If you want to find out about local sports facilities, use an online search engine, ask around or look out for adverts at schools and local shops.

A healthy diet

A healthy diet should include a large range of different foods and preparing food from scratch is usually much healthier than buying ready-made or fast food. Nowadays, people eat a lot of processed, ready-made foods and these have little nutritional value, as well as being high in fat, salt and sugar.

A healthy diet should include foods from the following food groups:

• Carbohydrates: carbohydrates, along with fruit and vegetables, should provide the bulk of your daily calories. Try to introduce your children to wholegrain carbohydrates from an early age, as these foods, including brown rice and wholemeal bread, are high in fibre and low in fat. Carbohydrates provide fuel for the body; try to go for complex carbohydrates, such as pasta and cereals, rather than simple carbohydrates, such as biscuits and cakes, as they release energy slower.
• Protein: protein is essential for growth and development. Good examples of protein include eggs, meat, poultry and fish.
• Fruit and vegetables: fruit and vegetables are essential for good health because they provide a range of important nutrients, vitamins and minerals. Try to introduce your child to a range of different fruit and vegetables from a very early age.
• Fat: fat is essential but it should be moderated very carefully. Try to avoid fast food and processed foods as these are often high in saturated fats. Instead go for foods which are low in saturated fat, such as margarine and olive oil.
• Calcium: calcium is really important for children because it helps to make bones, teeth and nails stronger. All children should take in plenty of calcium until the age of 18, and good sources of calcium include milk, cheese and yoghurts.

Child obesity

In recent years, rates of child obesity have soared and, in the last decade alone, figures have doubled and now it is estimated that between 1 in 5 and 1 in 6 children aged between 2 and 16 are obese. The main reasons behind the shocking increase in child obesity are poor diet and lack of exercise. Many children have swapped going out to play for sitting in front of a games console and more parents are feeding their children processed, ready-made food rather than healthy, home-made food. Children are also snacking and eating foods like sweets, chocolate and crisps on their way home from school or when they are with their friends, rather than eating healthy snacks.

Childhood obesity is a very serious issue, as it can lead to several serious health issues, including an increased risk of heart disease, strokes, cancer and diabetes. Children who are obese are also much more likely to become obese adults than those who were a healthy weight during their childhood years.

In order to cut rates of obesity, the government has introduced the Change 4 Life scheme to promote exercise and encourage parents and children to keep an eye on their calorie intake.