What do you need to bear in mind if you look after a child with primary immunodeficiency?

Primary immunodeficiencies are a group of genetic disorders in which the immune system functions improperly. There are more than 300 different types of primary immunodeficiency illnesses (PI), from fairly minor illnesses to other more serious ones that may prove fatal if not treated properly.

Regardless of the age at which the illness begins, it should be considered a chronic process for life. The initial symptoms resemble common illnesses (sinus infection, ear infection, fever, etc.) and this can lead to a delay in their diagnosis.

The following warning signs may cause suspicion of an immune deficiency:

1. More than two serious sinus infections in the space of a year.
2. More than two x-ray confirmed cases of pneumonia in the space of a year.
3. Serious skin infections and/or recurrent deep abscesses.
4. Stunted or delayed weight and height gain despite feeding correctly.
5. Two or more serious infections.
6. More than eight serious ear infections in the space of a year.
7. Fungal infections in the mouth after the first year of life.
8. Complications after being vaccinated and/or infections from microorganisms that normally do not cause illness.
9. Infections that do not get any better with normal treatment and require intravenous antibiotics to eradicate them.
10. Family history of illnesses in which the immune system functions improperly.

These infants are more susceptible to recurring, lingering, serious and unusual infections. At the same time, they are more likely to suffer from autoimmune diseases, allergies and abnormal tissue growth.

For this reason the necessary precautions must be taken to prevent infections. The strictness with which these measures must be applied will depend on the seriousness of picture presented and will have to be agreed with medical personnel:

• Correct hand hygiene is required, especially before eating, after going to the toilet or taking part in outdoor activities.
• Toys and personal belongings should be cleaned often.
• Avoid contact with people with infectious symptoms (fever, cough, sneezing, etc.).
• Use disposable tissues.
• Avoid crowds.
• Avoid smoking areas.
• Take precautions with pets and other animals.
• Take precautions during exposure to sunlight.
• You must ensure correct hygiene of foods to avoid poisoning.
• Avoid raw or under-cooked food.
• Avoid drinking water from an unknown source or that has been kept in the same container for a long time.
• The administration of live attenuated vaccines (rotavirus, oral polio, MMR, chicken pox, etc.) should be avoided, always following your paediatrician's advice.
• Family members should keep up to date with vaccinations.
• Follow your paediatrician’s treatment plan correctly.

The treatment chosen is up to your paediatrician and will depend on the type of PI and other factors. Most infants will, however, need the following treatment:

• Treatment with intravenous or subcutaneous gamma globulin.
• Prophylaxis with antibiotics, antivirals or antifungal medicines.
• Early and aggressive treatment of infections.

There are currently excellent collaboration channels between the biggest PI organisations, which provide optimum connections between medical staff and scientists (ESID - European Society for Immunodeficiencies), nursing staff (INGID - International Nursing Group for Immunodeficiencies) and patients (IPOPI - International Patient Organisation for Primary Immunodeficiencies).

In Catalonia, the Associació Catalana de Dèficits Immunitaris Primaris (ACADIP - Catalan Association for Primary Immunodeficiencies) aims to support patients and their families, and to campaign for the scientific community to increase research into new PI treatments. You can find further information on the association’s website: www.acadip.org.

Modifiable risk factors

• Proper monitoring of tension lowers the chances of suffering a stroke and other cardiovascular diseases. Hypertension is, in fact, the main risk factor for stroke after age (it is estimated to be the cause in between 25 and 50% of cases). 
• Follow a healthy diet, limiting salt and fats, processed meats, and industrial pastries . The Mediterranean diet is a good choice because, as well as being balanced and providing the necessary nutrients, it has a low content of saturated fatty acids, is rich in antioxidants and reduces the possibility of obesity, bad cholesterol (a risk factor for stroke) and diabetes. It is also advisable to eat fish, legumes, fibre, fruit and vegetables on a regular basis.
• Doingsport on a regular basis helps avoid obesity and diabetes and prevents cardiovascular disease. Everyone is advised, where possible, to do 30-60 minutes of moderate (walking quickly) or intense (running) aerobic physical exercise five days a week.
• Proper monitoring and treatment of diseases such as diabetes may decrease the risk of stroke and other vascular diseases. While chronic microvascular complications involved in diabetes (retinopathy, nephropathy, and neuropathy) are associated with poor long-term glycaemic control, macrovascular complications (ischemic heart disease and stroke) are determined mainly by other cardiovascular risk factors. We also need to monitor weight and obesity, which promotes high blood pressure, dyslipidaemia and diabetes.
• Nicotine causes cholesterol plaques in the arteries and can cause them to clog, so it is recommended to give up smoking. 
• Excessive alcohol consumption is also harmful: it causes hypertension and cardiovascular disease. This is why you are also advised to limit alcoholic beverages.
• Controlling heart disease, specifically atrial fibrillation: changes in heart rate, as is the case in atrial fibrillation, may cause thromboembolism in the brain (a type of stroke) or in other organs.
• Take your pulse is a campaign run by the Department for Health of the Generalitat de Catalunya, la Fundació Ictus (Stroke Foundation) and the Consell de Col·legis de Farmacèutics de Catalunya (Council of Associations of Pharmacists of Catalonia). If you feel strong, rapid palpitations without having done any previous physical activity, you are recommended to go to the doctor.

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The lack of effective removal of mucus initiates and exacerbates the lung disease cystic fibrosis and gives rise to the inability to prevent and eradicate the bacterial infection effectively.

In cystic fibrosis, inhalation therapy improves:

• The properties and mobility of the mucus
• The hydration of the airway surface
• Mucociliary clearance and pulmonary function

Aerosol therapy

Aerosol therapy is a treatment method based on administering substances in aerosol form by inhalation. An aerosol is a stable suspension of solid or liquid particles in the air, like oxygen.

The main advantage of aerosol therapy is that the aerosol is deposited directly on the respiratory tract, which allows greater concentrations of the substance converted into aerosol form to reach the bronchi and lungs, and with fewer side effects than if the blood stream is used. 

Types of nebuliser therapy most used in cystic fibrosis

A nebuliser is a device used to administer drug solutions or suspensions, in liquid form, via inhalation through a mask or a pipette (depending on the patient’s personal preferences and the indications of medical personnel).

Nebulisers may be classified according to the type of compressor that they use to generate the particles to be inhaled. Models that are easy to assemble and disassemble for patients are preferable.

There are currently three types of nebuliser:

• Pneumatic or jet nebulisers are the ones that are most used in clinical practice and come in different sizes. The nebuliser generally functions using compressed air or oxygen that enters through a small hole. The increased speed of the air causes a fall in pressure, which sucks the liquid to be nebulised through a feeding tube towards to outlet at great speed and in small drops.
• Ultrasonic nebulisers. Their function is based on applying a high frequency electric current to a quartz glass, which gives rise to a vibration that is transmitted to a liquid medium, which then transmits it to the substance to be nebulised and thus is able to produce steam or mist. Once the aerosol has been produced, it is pushed by a flow of air towards the patient. 
• Mesh nebulisers. In these devices, the aerosol is created by passing the liquid through a mesh.

Using nebulisers

Nebulisers comprise a nebulisation chamber, where the liquid to be nebulised is introduced and the aerosol created, and an energy source to allow the nebuliser to function.

One of the risks associated with using nebulisers is pulmonary infection, so the reservoir needs to be cleaned properly each time it is used.

Once nebulisation is complete, all the pieces need to be disassembled in order to clean them with hot water and soap. They must then be cleared, dried completely by air and stored in a dry place.

It is recommended that the first dose of a new drug is administered at the hospital to check that it has no adverse effects.

Nebuliser therapy is given to patients and caregivers and they are educated in handling, use, cleaning and maintenance of different devices, as well as in how to prepare the medication, focusing on and emphasising correctly following the treatment plan.

Steps to follow to administer nebulised medication

• Wash your hands
• Prepare and administer the medication correctly and safely: dose, drug, day, expiry date.
• Prepare and check the nebuliser.
• Fast-acting bronchodilator (salbutamol inhaler with spacer chamber). Bronchospasm should be avoided.
• Wait 15 minutes and then inhale the prescribed medication.
• Once the therapy is finished, good hygiene should be followed and the mouth rinsed to avoid infections and bad breath.

What do you need to bear in mind if you look after a child with pulmonary hypertension?

It is important to take into account the following:

• Being familiar with the symptoms
• Having a balanced diet
• Adapting to physical activity
• Preventing infections

Pulmonary hypertension requires highly specialised treatment, therefore, each case needs to be treated in reference units with a multidisciplinary team.

Nursing staff equip the child’s main carers and, depending on their age, the child, with the knowledge, skills and aptitudes they need to manage and treat the condition at home.

Possible signs and symptoms

Although the main symptom is difficulty breathing, initially following exercise and later when resting, the symptoms in paediatrics are non-specific and depend on the age of the child and the evolution of the illness:

• Breastfeeding babies: they may show signs of tiredness when feeding, frequent vomiting, irritability, slow growth and weight gain, quicker breathing and heart beating faster than normal; chest pain may manifest in crying fits and bluish discolouration of skin, mucous membranes and fingers (cyanosis).
• Pre-school children: the most common symptoms are fatigue with ease and lack of breath during physical effort; the skin and lips may have bluish discolouration,
• In children older than ten years and advanced cases: swelling may appear on the ankles and legs, the liver is enlarged and swelling of the finger and toe tips (acropachy).

To improve the signs and symptoms, we recommend

• Having a balanced diet
  • Both being overweight and being under-nourished can affect the control of this illness, limit daily activities and increase breathing and heart complications and infections.
  • Diet should be varied, low in salt and saturated fats and high in fibre, prevent constipation to avoid over exertion.
• Adapting to physical activity
  • Intense physical activity may increase pulmonary artery pressure. Activities that bring on symptoms should therefore be avoided and you should look out for signs of fatigue.
  • Adaptation to exercise should be slow and gradual. Increase frequency and intensity from slight to moderate depending on how the infant tolerates it.
  • Any activity that causes dizziness or shortness of breath should be immediately stopped.
• Preventing infections
  • Infections worsen the child’s general condition and aggravate the symptoms of the illness:
    • Hand hygiene: hands should be washed regularly.
    • Oral hygiene: clean teeth after every meal.
    • Vaccinations: respiratory infections are poorly tolerated and must be treated early. Seasonal vaccinations of flu and pneumococcal pneumonia are recommended for both the patient and their cohabiting family.

Look out for the following warning signs and, if they appear, see a doctor:

• Difficulty breathing which leads to frequent interruptions during intake of breath.
• Unexplained weight gain (900 g a day or > 2 kg a week)
• Increased swelling of the ankles, feet, legs or abdomen
• Extreme fatigue or decreased tolerance of physical activity
• Shortness of breath that does not improve with rest

What do you need to bear in mind if you have multiple sclerosis or you are caring for someone who does?

Current evidence is insufficient to give advice on preventing multiple sclerosis. It is, however, advised that your have a healthy lifestyle and carry out activities as normal. Multiple sclerosis affects women more than men, often appears in young adults and is the second biggest cause of non-traumatic disability.

When agreeing with the patient to start them on a drug to treat symptoms or multiple sclerosis itself:

• They should be given very specific education about the action of the medication, the possible side effects, as well as how to administer and store it in order to guarantee that the treatment plan is followed and stuck to.
• Although the establishment of background treatment as soon as possible allows good control of the evolution of the illness, sometimes outbreaks sometimes occur that need to be assessed and, where required, treated at a day hospital for three days, completing the appropriate follow-up to check recovery.

Symptoms

The symptoms of multiple sclerosis can vary greatly, so you are advised to consult specialists when you feel:

• Fatigue. If it appears, it is a good idea to plan moments of activity with moments of rest.
• Sensitivity to temperature changes.You are advised to avoid extreme temperatures and, if you get a fever, lower it as soon as possible.

Although there is no scientific evidence that allows us to make concrete recommendations to prevent or change the course of the illness, there is a whole host of advice about diet, habits and physical exercise that patients and, in general, the entire population, should bear in mind:

• You need to have a healthy lifestyle.
• You should have a balanced and varied diet.
• Exercise.
• Do not smoke, as tobacco is associated with worsening in the progression of the illness. 

You are also advised, should you suffer fatigue, to continue daily activity and stay active, combining moments of activity with moments of relaxation as well as to seek energy-saving strategies.

Vitamin D has an important role to play in relation to the illness, which is being researched intensively. Often, people affected present a deficiency of this vitamin, so you are advised to take a supplement under instructions and supervision by your specialist.

Multiple sclerosis is a complex and chronic illness, so it is recommended that those around the person affected are given adequate and comprehensive information. It is also a good idea to have access to ongoing advice whenever necessary.

The family or professional carer, where necessary, may need training and practical advice on topics such as diet, hygiene and the patient’s mobility.

Other related health information

Health education in the diagnosis, at the beginning of the treatment and for the mobilisation of the disabled patient.

What do you need to bear in mind if you have ampullary epidermolysis or you are caring for someone who does?

The best thing is if the patients, their families and their caregivers receive comprehensive health education, especially when they are first diagnosed, during the baby’s first few days, when skin lesions can already begin to occur.

The education aimed at preventing the evolution and complications of the disease will be given by professionals from the following disciplines:

• Dermatology
• Plastic surgery
• Nutrition
• Paediatrics
• Rehabilitation and occupational therapy
• Community and hospital nursing
• Psychiatry
• Psychology

Skin affected by ampullary epidermolysis is very sensitive to the slightest pressure or friction, which then causes a blister to form. To avoid damage, bear in mind the following recommendations:

• Do not apply any adhesive products to the skin, such as plasters, stitches, electrodes, adhesive dressings, etc.
• Intravenous channels should be attached using gauze and cohesive bandage on top, without touching the skin, or with a silicone plaster. If pressure needs to be applied, Vaseline should be placed on the pressure point.
• The patient should always be lifted with open hands, without causing any friction or pressure.
• Their surroundings should be protected, adding cushions and pillows to avoid unnecessary blows.
• A water mattress may be used with a foam, latex or memory foam support.
• Nappies should not be too tight, and the skin should be protected from fiction using gauze or cotton.
• Clothes should preferably be cotton, as it breathes more easily and is easier to put on. Avoid rubber, zips, labels and other details that may rub the skin. Seams should be put on inside out.
• The skin should be protected from sunlight and keep an eye out for spots and freckles.
• Keep the skin as hydrated as possible.

Other related health information

• Treatment of injuries (dressings and healing materials)
• Treatment of skin complications
• Treatment and decontamination
• Treatment of nutritional and gastrointestinal complications
• Treatment of pain
• Infection control
• Rehabilitation treatment 

What do you need to bear in mind if you have amyotrophic lateral sclerosis or you are caring for someone who does?

In order to improve the respiratory difficulties in patients, ventilation therapy can be used through non-invasive ventilation.

Ventilation therapy refers to breathing support using a ventilator, usually at night during sleep, to achieve:

• A decrease in respiratory effort (feeling of fatigue)
• Improved quality of life for patients with ALS  

Ventilation is carried out non-invasively, by means of a patient-adjusted mask (nasal or full face) connected by a tube to the ventilator or respirator.

When patients need this therapy, the place and time it is started, whether outpatient or hospital admission, is planned in a personalised way with the consent of the patient and the person caring for them.

Education for the patient and their main carer should begin as soon as possible, both from the point of view of managing secretions and the resulting care, as well as the emotional support they need to receive. This means that during the patient’s admission or outpatient visit, the patient and their carer will be trained in:

• Correct use of a respirator  
• Fitting and adjusting the mask  
• Care to prevent possible skin sores
• Hygiene 
• Looking after the respirator 

The patient and the carer must take care to keep the airway in good condition to allow secretions to be managed. It is important to preserve the ability to cough where possible, but if coughing is no longer effective, the patient and carer will need to start learning how to use mechanical aids (cough assist or mechanically assisted cough). In certain cases secretion suction may also be used.

To improve the quality of life of patients it is important to follow the advice below:

• Nocturnal ventilation: to be carried out daily, but gradual adaptation should be permitted until the patient is able to sleep through.
• After eating, wait between one and two hours before ventilation.
• Assisted cough should be done every day in order to maintain the skills learned by the patient and their carer, which will facilitate quick resolution of the situation if required.
• All scheduled appointments should be attended where any doubts raised will be resolved.
• Possible infections should be prevented: with flu and pneumococcal vaccinations according to medical advice, by going out in the sunniest hours of the day during the winter and the least sunny in the summer, and contact with people with respiratory infections should be avoided.
  • If signs or symptoms of respiratory infection appear (fever, increase or change in secretions, breathlessness, etc.) you should consult the healthcare team immediately.

Other related health information

• Emotional support to patients and carers in ALS
• Advice for preventing sores
• Advice for patients with a tracheotomy
• Advice for patients with problems swallowing
• Documenting the patient’s wishes

What do you need to bear in mind if you have diphtheria or you are caring for someone who does?

Diphtheria is transmitted via the respiratory tract, mainly, and also by direct contact with a sick person or a healthy carrier of the bacteria. The illness may affect the tonsils, pharynx, the larynx, the nasal mucous membrane and, much less frequently, the skin or other mucous membranes. The bacteria forms a thick grey membrane with a dark red swollen area around it, which in the case of the nose and throat may obstruct the respiratory tract.

Some people may carry the bacteria in their nose or throat. If these people are vaccinated they will not develop the illness, but they may transmit the bacterium to other people via droplets produced when they sneeze or cough. The existence of carriers in countries with no cases of the illness is very rare.

Recommendations and treatment for relatives and carers

Communication

• Speak naturally, using simple words and short sentences, without shouting.
• In the first phase after a stroke, ask short, yes/no questions.
• Promote conversations about every-day life and familiar situations to stimulate the patient’s language.
• If necessary, accompany conversations with gestures to facilitate understanding.
• Items such as the radio or television should be turned off to avoid distractions.
• Respect the response time: avoid showing impatience or cutting off the patient.
• In serious cases, you can use alternative means of communication, such as boards with everyday images on them. There are also mobile apps that can help.

Movement

• Do the exercises recommended by the physiotherapist.
• Move joints and avoid incorrect positions.
• When moving a patient, never touch the affected side.
• It is important that the patient be out of bed for as long as possible.
• Pillows should be used to protect zones of friction and position should be changed every four hours.
• Before the patient drives again, a specialist should be consulted.

Sleep and rest

• It is recommended to sleep seven or eight hours a day.
• Provide a quiet environment and provide a point of light so the patient can orient themselves during the night.
• Create a day atmosphere (more active, bright) and a different, night atmosphere (quieter, darker). This helps in understanding the sleep pattern.
• Avoid letting them sleep during the day, except for a short afternoon nap.
• After a stroke, the patient may find themself more tired for a while. It is important to become more active but without forcing it.

Hygiene

• Encourage the patient to collaborate in their personal hygiene.
• Whenever possible, use a shower, instead of the bathtub, with a chair inside and a handle on the wall.
• The soap should be neutral and free of alcohol, as this can dry the skin.
• The skin should be dried properly, taking special care with folds. It should then be hydrated and protected.
• Maintain proper oral hygiene.
• Watch bony prominences to prevent pressure sores.

Getting dressed

• Wear comfortable clothes that are easy to put on and take off, such as sportswear with elastic and no buttons.
• Start dressing the patient on the affected side and undressing them on the side that is not affected. It is preferable to be seated.
• To put on trousers (pants), especially if the patient is in bed, it is easier to gather up the trousers, insert one leg at a time and then pull them up.
• Shoes should be closed, with no laces and non-slip soles, which fit the foot well. Shoehorns can make it easier to put on shoes.
• The patient feels the same degree of cold and heat as the carer, so do not give them too many layers.

 Physical obstacles

• Remove obstacles such as carpets or chairs to avoid tripping.
• Adapt the home to the new situation: install bars, a taller toilet or shower, etc.
• Adapt the home to improve patient autonomy and prevent falls. For example: have a high bed (70 cm) to make it easier for the patient to get up and down comfortably.

Leisure and recreational activities

• Maintaining social life and hobbies, while respecting the limitations of the patient, improves self-esteem and avoids isolation.
• Incorporate leisure activities gradually, according to the degree of autonomy and in consensus with the patient.

Sex

• Immediately after a stroke, sexual desire may decrease, but it will gradually recover. If in doubt, consult a doctor.
• Paralysis may make sex trickier, but not impossible.
• Fear of suffering another stroke during sex is generally unfounded.
• It is important to talk to your partner about any fears or worries that may arise.

Return to work

• The return to work must be planned, together with the company, so it is gradual, both in terms of demands and time.
• After re-joining the workplace, the situation should be re-evaluated in case changes or adaptations need to be made to improve patient performance and ability.

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What do you need to bear in mind if you have Coeliac disease or you are caring for someone who does?

Gluten is a protein complex found in cereals. It is made up of two proteins, gliadin and glutenin. It is important that Coeliac patients permanently remove foods containing gliadin and glutenin from their diet. This means eliminating wheat, barley, rye, oats, triticale (a hybrid of wheat and rye) and all derivatives.

Although foods must be removed from their diet, patients with Coeliac disease must follow a balanced diet, ensuring they get sufficient nutrients. To achieve this you need to incorporate a wide variety of foods with different preparation and cooking methods. 

Patients with Coeliac disease should base their diet on dairy, meat, fish, eggs, fruit, vegetables and  pulses, and cereals they can eat, such as corn, rice, quinoa, millet, amaranth, sorghum, teff or buckwheat. Sugar and processed foods should be ingested to a lesser extent.

• Cereals WITH GLUTEN: wheat, barley, oats and triticale
• Cereals WITHOUT GLUTEN: rice, quinoa, millet, corn, amaranth, sorghum, buckwheat and teff

Foods  should be prepared as normal, avoiding cross contamination: boiled, steamed, grilled, fried or baked. Batter and breadcrumbs should be made with flour or bread that is suitable for Coeliacs.

It is important to take care with processed or packaged foods. It is harder to avoid cross contamination in processed foods.

Read product labels carefully when you are buying food that is not fresh. Some foods naturally do not contain gluten, but in their commercially available form they do, as gluten is sometimes added during the manufacturing process. To be on the safe side, it is therefore better to avoid unlabelled products, such as those bought in bulk or handmade products.

It is a good idea to have a space set aside just for storing gluten-free foods. You should also use clean cooking utensils to make sure they have not come into contact with products containing gluten. 

When eating out, take precautions. It is important to make sure that what you eat has not come into contact with any food containing gluten. One example would be oils in which foods containing gluten have been fried.