Cystic Fibrosis

What is Cystic Fibrosis?

Cystic Fibrosis is one of the most common serious genetic diseases; its highest incidence is among Caucasians (affecting 1 in 3,000). There are about 7500 people in the UK today with the disease. Life expectancy is increasing; the average is now 31, compared with just a few months in the 1930s. There is no cure, but prenatal screening (chorionic villus sampling and amniocentesis) is available when both parents are known to be carriers - both parents must be carriers for a child to inherit cystic fibrosis; there is a one in four chance of the child having the disease. Research is under way to develop gene therapy, to replace the faulty gene in sufferers, however current treatment aims to minimise the
symptoms, and deal with the frequent lung infections, which are the most common cause of death.

It is a mutation in the gene called Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) which is responsible for cystic fibrosis (500 different mutations have so far been discovered to lead to the disease). As a result, the body produces a non-functional CFTR protein, which disrupts the normal flow of salt and water from the cells of the exocrine glands - the organs affected are the lungs, the pancreas, and the reproductive system. The complications of cystic fibrosis stem from the large amounts of very sticky mucus that are produced in these areas.

The name refers to the cysts (fluid filled sacs) and scar tissue (fibrosis) typically occurring in the pancreas; this is caused by the channels through which digestive enzymes are meant to pass becoming clogged with mucus. The digestive problems associated with the impaired function of the pancreas can generally be controlled with supplements and medication, though children are sometimes underweight and of small stature. The pancreas is also responsible for insulin production; 15% of adults with cystic fibrosis eventually develop diabetes, though it tends to be relatively mild.

An individual born with the cystic fibrosis gene will usually be diagnosed in the first year, although occasionally symptoms do not become evident until adolescence, or even later. The symptoms and their severity vary from person to person, but may include:

• Excessive salt in sweat, dehydration
• Chronic cough, possibly with blood streaking
• Wheezing
• Frequent Bronchitis and other airway infections
• Thick mucus secretions in the lungs
• Chronic sinusitis
• Asthma
• Nasal polyps (growths inside the nose)
• Failure to put on weight
• abdominal swelling, pain and flatulence
• Frequent, foul-smelling stools
• Failure of newborn to pass stool
• Fatigue

Late onset of puberty, inflammation of the pancreas, cirrhosis (a liver condition), and infertility may also be associated with cystic fibrosis.

Diagnosis is generally made by means of a physical examination and a sweat test, which shows high levels of both sodium and chloride. Genetic testing is also available.

Treatments

Conventional treatment

An individual with cystic fibrosis will be under the care of a specialist doctor, who will prescribe the appropriate medication and therapy to control the symptoms.

Most people suffering from cystic fibrosis need some form of mucus clearance therapy (bronchial drainage), for both immediate relief and the long-term health of the lungs. This may need to be carried out several times each day. In chest physiotherapy, the patient's back and chest are clapped in six different positions, for 3-5 minutes per position, to release the mucus, which is then coughed up. The Vest is a machine that pumps air into a vest, compressing and releasing the chest wall, forcing the mucus .out of the lungs. The Flutter is a small, hand-held device, which the patient blows into slowly; rapid fluctuations in air pressure lead to mucus in the lungs being dislodged. PEP (Positive Expiratory
Pressure) involves blowing hard against a resistance, which opens the airways, allowing air to circulate and move the mucus. IVP (Intrapulmonary percussive ventilation) - bursts of air are administered to the lungs, which has a hammer effect, opening the airways and allowing the mucus to escape.

Combinations of drugs also help control the excessive mucus production; these are Usually misted and inhaled:

Bronchiodilators - widen the breathing tubes

Mucolytics - break down the mucus

Decongestants - reduce the swelling of the breathing tubes

The enzyme Dnase is also used to 'eat' the cellular material in the mucus.

Antibiotics are given, either intravenously or inhaled, when the lungs become infected as a result of breathing in bacteria, which thrive in the mucus.

Inhaling a simple sugar, xylitol, has been shown to activate the body's natural antibiotics, by lowering the salt concentration of the cells in the lungs. (Proceedings of the National Academy of Sciences, 10/10/2000: A patient with severe respiratory failure may need a lung transplant. Over a third of patients who under go this surgery are alive and doing well eight years after the operation.)

Ibuprofen - this anti-inflammatory drug has been seen to be most effective when given in high doses to patients under the age of 13.

Oxygen therapy is used, both in hospital and at home, to increase the patient's oxygen intake. Oxygen is supplied though a nasal tube, or a face mask.

To control the digestive problems the following medications may be prescribed:

Pancreatic enzymes, such as lipase, are often taken in pill form with meals, since the body's digestive enzymes are prevented by the mucus from reaching the stomach.

Enemas and mucolytic agents are used to treat blockages in the intestines.

In very severe cases, surgery may be necessary.

Gene therapy - The aim of gene therapy is ultimately to cure cystic fibrosis by replacing the defective CFTR gene with the intact version in the affected tissues of the body. The genes are to be transported by a 'vector', which is most commonly derived from a virus. Laboratory experiments have demonstrated that this works in principle, but identifying which cells in the body should be targeted, and delivering the new gene to them, remains a challenge. An alternative to replacing the whole gene is just replacing the relevant fragment, or minigene.
This technique is known as SMaRT, and is being developed at the University of Iowa.

Complementary Therapies

Nutrition
The patient's diet must be carefully designed to provide the extra calories and nutrients that may be necessary as the body is not digesting or absorbing food effectively - cystic fibrosis patients need up to 50 percent more calories, achieved by maintaining a diet rich in fat and protein. This is particularly important during chest infections - extra energy is needed to fight the infection, and to compensate for the extra effort of breathing; protein is needed to repair the damaged tissue.

Another consideration is avoiding foods that encourage mucus secretion, such as dairy products. Foods that reduce mucus and inflammation include: garlic, onions, watercress, horseradish, mustard, parsley, celery, pickles, lemon, and the oils in nuts, seeds, and fish.

When taking antibiotics, it is helpful to take acidophilus, which replaces 'good' bacteria in the digestive system.

In addition to the pancreatic enzyme supplements mentioned above, supplementing the diet with certain vitamins and minerals is recommended for most cystic fibrosis patients, as they are often deficient due to poor digestion. Among the most important are:

The B vitamins - aid digestion, and tissue repair

Vitamin C - for tissue repair, and good immune function

Vitamin K - necessary for digestion (alfalfa extract is a good source)

Vitamin A - for tissue repair, and immune system

Vitamin E - antioxidant; may also help prevent neurologic disease

Selenium, beta-carotene - antioxidants, needed for tissue repair

Zinc - important for the immune system

Essential fatty acids (eg, evening primrose oil) - relieves inflammation

Herbal Medicine
Until the late nineteenth century, all medicines were derived from plants. Many medicines are still based on plant remedies (aspirin, for example, is similar to a substance found in the bark of the willow tree), however herbalists claim that one of the benefits of treating patients with the whole plant is that in addition to the curative substance, it contains elements which prevent side effects. The herbs may be taken individually or combined, as tablets, capsules, tinctures or teas.

Herbs beneficial to cystic fibrosis patients include:

To help break down mucus:
Thyme (thymus vulgaris), Indian tobacco (lobelia inflata), anise (pimpinella anisum), hyssop (hyssopus officinalis), licorice root (glycyrrhiza glabra), rosemary (rosemarinus officinalis)

For acute infection:
Coneflower (echinacea purpurea), goldenseal (hydrastis canadensis), thyme (thymus vulgaris), wild indigo (baptisia tinctoria)

National Institute of Medical Herbalists
56 Longbrook Street
Exeter
EX4 6 AH
01392 426 022

Homeopathy
Homeopathy is based on three principles:

1 The principle of similars ('like cures like'):
Homeopathic remedies treat illnesses with a substance that produces, in a healthy person, symptoms similar to those displayed by the person who is ill; according to Hahnemann it is because nature will not allow two similar diseases to exist in the body at the same time. The mainstream immunisation programme is based on a similar principle: a vaccination infects the person with the actual disease; the difference with homeopathy is that the latter uses a remedy that will produce similar symptoms to the disease - for example Allium Cepia, which is a remedy created from red onion, is used for watery eyes and runny nose.

2 The principle of infinitesimal dose:
Homeopathy works the opposite way to conventional medicine, in that a minimum dose is required for effect. Hahnemann believed that the more a remedy was diluted the more potent it became, the more specific its effects were and the longer it lasted. It is believed that homeopathic remedies are diluted to such a degree that no atom of the original substance is left in the final remedy. How the remedies work is not well understood and this has brought some criticism from physicians. Homeopaths believe the answer is to be found in the domain of quantum physics: the water and alcohol mixture remembers that the substance was once there; they claim that continued dilution and shaking or 'succussion' can imprint the electromagnetic signal of a substance in the water. According to Richard Gerber 'homeopathic remedies are subtle energy medicines which contain the energetic frequency of the plant, mineral or animal from which they have been prepared'.

3 The principle of specificity of the individual:
The treatments are individualised: each individual has a symptom profile and it is quite likely that two persons with the same condition will be given different medicines. Practitioners look at the whole not just the condition. They will ask a series of questions about the medical history, moods, likes and dislikes, diet, chronic disorders or traumas of the patient in order to draw up a list of symptoms; they pay special attention to unusual symptoms. The choice of remedies depends more on the patient's individual reaction to illness, mentally and emotionally, than on the signs and symptoms characteristic of the disease - for instance, if a patient has headaches, it is not the headaches that will be treated but the person with the symptoms that will be treated. The remedy that fits all the symptoms of a person is called 'similimum' for that person.

There are over 2000 homeopathic remedies, they are made from plant, minerals, metals or animals and their Latin name indicates the substance they were created from. The remedies are extremely pure; they come in the form of lactose tablets, powder, granules, or as a liquid. Parts of the original substance are dissolved in alcohol to create the mother tincture (MT) and shaken ('succussed') several times. 1 drop is mixed with various ratios of distilled water: 1 in 10 (x dilutions), or 1 in 100 (c dilutions), for example 2C (2CH in Europe) dilution means that 1 part of mother tincture is mixed with 99 parts of water and alcohol then shaken (1C), then 1 part of this liquid is mixed with another 99 parts and shaken (2C).

Remedies should be taken at least half an hour after taking food or drink, it is advisable to avoid strong-tasting substances such as peppermint (mint-free toothpaste is available at health food stores), eucalyptus, camomile, camphor, coffee and tobacco. Granules or tablets should be dissolved under the tongue for best results and it is advised not to touch them with fingers as they will lose their properties.

Long-standing complaints are believed to take longer to treat than ones that developed recently, and symptoms may often get worse before they begin to get better. This reaction is called 'the healing crisis'.

Examples of remedies which may be prescribed for cystic fibrosis patients include:

Antimonium tart - for rattling, unproductive cough

Carbo vegetabilis - for difficulty breathing

Laurocerasus - for collapsed lung

British Homeopathic Association
15 Clerkenwell Close
London
EC1R 0AA
Tel: 020 7566 7800
http://www.trusthomeopathy.org

Psychotherapy
Some children with cystic fibrosis experience severe anxiety and depression. Different forms of psychotherapy are used to help children, including psychodynamic therapy (exploring past and present life events, and emphasising change and development), cognitive behaviour therapy (recognising that thoughts cause behaviour, and overcoming 'automatic' negative thoughts), and play therapy.

Hypnotherapy can also be a useful tool in controlling pain; the therapist may teach the patient how to enter a light trance, which can reduce painful symptoms.

United Kingdom Council for Psychotherapy
167-169 Great Portland Street
LONDON
W1W 5PF
020 7436 3002
http://www.psychotherapy.org.uk

Acupuncture

Acupuncture is only one element of traditional Chinese medicine, which also includes herbs, acupressure, exercise and diet. Acupuncture grew out of ancient Chinese philosophy of the yin and the yang. The yin, the female principle, is passive and dark and is represented by the earth; the yang, the male principle, is active and light and is represented by the heavens. The forces of yin and yang are thought to act in the human body as they do throughout the natural universe as a whole. Disease or physical disharmony is caused by an imbalance or dominance of one of these two forces in the body, and the goal of Chinese medicine is to bring the yin and the yang back into balance with each other, thus restoring health.

An imbalance of yin and yang is thought to obstruct the vital life force, or the chi, in the body. The fundamental energy of the chi flows through 14 main meridians, or pathways, in the body, each in turn is associated with a major organ (liver, kidney, etc.) or body function. Acupuncture aims to affect the distribution of yin and yang in these channels so that the chi can flow freely and harmoniously. Disruption on a meridian can create illness at other points along it; for example, a disorder of the stomach meridian could be manifested as pain in the gums.

Treatment

The actual practice of acupuncture consists of inserting needles into any of hundreds of points located over the 12 basic meridians and over a number of specialised meridians. The typical insertion is 3 to 10 mm (0.1 to 0.4 inch) in depth; in some procedures insertions may be up to almost 25 cm (10 inches). Once inserted, a needle may be twisted, twirled, or connected to a low-voltage alternating current. The practitioner often inserts needles at a considerable distance from the point on which they are to act; for example, a needle inserted into the pad of the thumb is used to produce analgesia in the abdomen. Similarly, successive points on a specific meridian may affect widely different areas or conditions.

Other acupuncture techniques include moxibustion in which the herb moxa is burnt to create heat to stimulate the acupoints. In cupping, glass cups may be placed over the points in order to draw blood towards them. The practitioner can also gain information about the patient from studying the skin before and after this treatment. Electro-acupuncture was developed in China in the 1950s. A low-intensity pulsing electric current is applied to the needles to stimulate the acupoints and can reach a number of acupoints simultaneously. Laser acupuncture directs a fine, low-energy laser beam on to the acupoint - particularly useful for patients with an aversion to needles.

Acupuncture may help stimulate respiratory function, and improve immunity against infections in cystic fibrosis suffers.

British Acupuncture Council
63 Jeddo Road
London
W12 9HQ
Tel: 020 873 0400
http://www.acupuncture.org.uk

British Medical Acupuncture Society
12 Marbury House
Higher Whitley
Warrington
Cheshire
WA4 4JA
Tel: 01925 730 727
http://www.medical-acupuncture.co.uk

Exercise

It has been suggested (by David M Orenstein, MD, director of the Cystic Fibrosis Care Centre in Pittsburgh, and professor of both paediatrics and physical education at the University of Pittsburgh) that doing some form of aerobic exercise regularly can help improve shortness of breath, mucus clearance heat tolerance and fitness. Exercise is also known to decrease depression. No studies have found any harmful effects on lung function. Blood oxygen levels tend not to drop, but using extra oxygen may be helpful. It is also important to increase salt and water intake if exercising in hot weather. Although exercise burns up extra calories, it also stimulates the appetite; in addition, muscle weighs more than fat, so patients may actually put on weight.

An exercise programme should be developed in consultation with your doctor; some recommended forms of exercise are: walking, jogging, swimming, cycling, stair-stepping, and aerobics.

Massage

Massage is a hands-on technique used to stimulate the body through the skin, the body's largest sensory organ. Massage boosts the circulatory and immune systems and is part of many health systems. Different massage techniques are practised and integrated into various complementary therapies. Gentle massage can trigger the release of endorphins, the body's own painkillers, and induce feelings of comfort and well-being. Stronger massage may help to stretch uncomfortable muscles and ease stiff joints, improving mobility and flexibility. Massage directly affects heart-rate, blood pressure, respiration, digestion and skin tone. It can lower levels of stress hormones which weaken the immune system. The psychological effect is to release tension and reduce anxiety.

Western (or Swedish) massage is generally given to a patient lying on a table. Different degrees and rhythms of pressure are used and a variety of techniques have been developed. Remedial massage focuses on conditions such as muscle strain. Manual lymph drainage (a gentle pumping massage) stimulates the lymphatic system to help eliminate metabolic wastes from the body. Eastern massage, such as shiatsu, uses acupressure techniques applying pressure rather than stroking, aiming to balance energy forces in the body.

Most doctors endorse massage in the light of substantial clinical evidence and patients' experiences. There are general precautions for massage that should be observed; some of them are to seek medical advice if the patient has phlebitis, thrombosis, varicose veins, acute back pain or fever. Swellings, fractures, bruises and skin infections should not be massaged. Massage of the abdomen, legs and feet should not be given in the first three months of pregnancy. Cancer patients should be treated by specifically trained practitioners who have knowledge of which areas to avoid and which techniques are most appropriate.

Massage Therapy Institute of Great Britain
PO Box 2726
London
NW2 3NR
Tel: 0208 2081607
http://www.cmhmassage.co.uk

London College of Massage
5-6 Newman Passage
London
W1P 3FF
Tel: 020 7637 7125
http://www.massagelondon.com

Colloidal silver

Colloidal silver (ultra-fine particles of silver suspended in water) is recognised by some to act as a natural alternative to anti-biotics. Silver has been used to kill germs for thousands of years; though it is not currently approved by, eg, FDA, a silver based slave in commonly used to kill infections in hopsitals, and silver nitrate is used as an eye-drop to prevent infection. Although it is more expensive to produce than pharmaceutical anti-biotics, it has several advantages: pathogens cannot mutate against it, causing resistant super-bugs;
it is completely non-toxic (it has no known side-effects); there is no known interaction with other medication.

Testimonials to the effectiveness of colloidal silver in reducing chest infections in cystic fibrosis patients are plentiful on the internet.

Colliodal silver is available from health food shops. Indicators of good quality products are: colour (it should be pale yellow), additives (there should be none), conductivity, concentration (5-10mg/litre), particle size (less than 0.014microns).

Other therapies which may be beneficial in relieving the pain and infections associated with cystic fibrosis include: Reiki, Qigong, reflexology, chiropractic.

Resources

Cystic Fibrosis Trust
11 London Road
Bromley
Kent
BR1 1BY
Telephone - 020 8464 7211
http://www.cftrust.org.uk

The Cystic Fibrosis Foundation
6931 Arlington Road
Bethesda, Maryland
20814
(001) 301 951-4422
http://www.cff.org

National Association for Alternative Medicine
California Non-Profit Center for Living and Learning
14549 Archwood St.
Suite #211
Van Nuys, CA
91405
http://naam-lung.lle.org/alternative

Cystic Fibrosis UK
A charity which helps people with CF
http://www.ginas.org.uk

Interesting Websites:
- http://www.angelfire.com/ok4/cfgen
- http://www.healingwell.com/cysticfibrosis/
- http://www.curefound.com/alt/

Books:

Orenstein, David M - Cystic Fibrosis: a Guide for Patient and Family ISBN: 0397516533

This site lists many books about cystic fibrosis: http://www.wellnessbooks.com/cysticfibrosis

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