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What is Cystic Fibrosis?

Cystic fibrosis is a genetic defect usually passed on from parents, whom maybe carriers without presenting symptoms themselves. The specific gene affected is responsible for coding a specialised protein that controls the secretion of chloride across epithelial cell walls and the corresponding absorption of sodium and water. The gene can be defective in a variety of different ways, but the specific fault is no indicator of the conditions potential severity.

The poor control of chloride and sodium across the cell walls lining the lungs means the protective mucus coating these walls is more viscous and stickier. More bacteria are caught in the sticker mucus, but its thicker consistency makes it hard to clear from the lungs. The trapped bacteria that cannot be effectively cleared leads to higher frequency of infection and corresponding bouts of inflammation.

The impairment of normal lung function is the most noticeable and life threatening aspect of cystic fibrosis, however the genetic defect affects all mucosal epithelial cell walls around the body. This negatively impacts the normal operation of the sinus’, intestines, pancreas and liver.

What causes Cystic Fibrosis?

Cystic fibrosis is a hereditary condition linked to a recessive gene, meaning that both parents must be in possession of the affected gene to make developing the condition possible. Even if both parents carry the defective gene there is still only a 1in 4 chance of their child developing the condition. However, given that cystic fibrosis is the most common, life shortening, hereditary condition amongst Caucasians it is calculated that approximately 1 in 20 people likely carry this defective gene. This produces a disease frequency in the population of roughly 1 in every 3,300 people.

The hereditary genetic nature of this condition is also demonstrated by its distribution amongst the global population. As mentioned above it predominately affects the Caucasian population, with incidence of the disease being approximately ten times higher than in the Asian population.

What are the symptoms of Cystic Fibrosis?

Being a genetic condition some early signs of cystic fibrosis are detectable from birth, such as babies born with distended stomachs due to meconium blockages. Most symptoms commonly associated with respiratory function develop much later and a specific diagnosis of Cystic fibrosis is usually reached by their first birthday. The severity of symptoms can vary widely between individuals, even when the defect to the cystic fibrosis gene (CFTR gene) is identical. Some of the symptoms may include the following;

  • Distended abdomen
  • Excessively dry skin
  • Inflammation of the nasal cavity, including polyps.
  • Reoccurring dry coughs
  • Respiratory wheezing with audible crackles.
  • Overuse of accessory breathing muscles with hyper inflated chest.
  • Elevated rate of respiration (breaths per minute)
  • Sharp retractions of the abdominal walls with each breath.
  • Bulbous swelling of finger tips, called clubbing.
  • Cyanosis, lips and nail beds turning blue with serious hypoxia.

As cystic fibrosis affects multiple body functions at the molecular level there are a considerable number of ‘knock on’ effects. The following are some of the complications that may potentially arise from the presence of cystic fibrosis;

  • Sinusitis
  • Bronchiectasis
  • Pancreatitis
  • Vitamin deficiency
  • Liver failure
  • Rickets
  • Osteoporosis
  • Scoliosis
  • Kyphosis

How is Cystic Fibrosis Diagnosed?

A doctor can confirm a diagnosis of Cystic Fibrosis following a detailed investigation of the child’s symptoms, medical history and using specific tests to rule out other possible conditions. If you suspect your child has Cystic Fibrosis you should seek an assessment with your doctor. Once diagnosed we can assess their current level of lung function and target treatments accordingly.

For more information on how physiotherapy can help treat Cystic Fibrosis, or to book yourself an assessment, please contact us via email at office@physio.co.uk or ring us on 0330 088 7800.

What would a physiotherapy assessment for Cystic Fibrosis involve?

At Physio.co.uk, we want to gain as much information as possible about your condition to ensure we give you the best treatment. In your first appointment with us, our physiotherapists will carry out an assessment which has two parts:

Subjective

A discussion between you and our physiotherapist to find out what symptoms you are experiencing, and how your condition is affecting you and your lifestyle.

Objective

An assessment to discern the presence of any pain, your current breathing pattern, respiration rate, lung volume and a series of special tests to identify the presence of any mucus retention and lung function impairment.

There can be great variation in the symptoms displayed, depending on the progression of the condition and any complicating factors. The assessment process will be important in identifying your current symptoms and needs, so that treatments can be targeted and effective.

What would physiotherapy treatment for Cystic Fibrosis involve?

At Physio.co.uk, Our physiotherapists will ensure you specialised treatment for your Cystic Fibrosis. Depending on the severity and duration of your condition, your treatment may involve:

  • Secretion clearance:
    • Effective / productive coughing techniques.
    • Postural drainage in sitting and lying.
    • Manual assistance, including percussion, vibrations and shaking.
  • Breathing technique retraining:
    • Controlling respiratory rate
    • Diaphragmatic breathing
    • Controlling / reducing breath volume
    • Relaxation breathing exercises
  • Education and Advice:
    • Illness cause and progression.
    • Effects of environmental and allergen factors.
    • Medication management
    • Recognising signs of possible Asthmatic episodes.

At Physio.co.uk you will experience a personalised treatment session. Each appointment will be aimed at returning to your everyday activities and what you enjoy. It will be important to note that the respiratory physiotherapy we apply should be closely incorporated with other health care professional’s management of the client’s dietary, medical and counselling needs.

How can I arrange a physiotherapy assessment for Cystic Fibrosis?

If you have been diagnosed by your doctor as having Cystic Fibrosis and are suffering from symptoms affecting your breathing and lung clearance, you would benefit from an assessment with one of our experienced respiratory physiotherapists.

You can contact us directly to arrange an assessment and we can advise you if further treatment is recommended, and give you advice on self-management. To arrange an appointment please email office@physio.co.uk or call 0330 088 7800.

Summary

At Physio.co.uk, our respiratory physiotherapists can provide specialist assessment and treatment for people with Cystic Fibrosis. We can apply a range of therapy techniques and advice to manage your symptoms and maintain the best possible level of lung function and comfort. We can also advise on activity modification to make daily living easier. Along with advice for you and your family on appropriate self-management techniques to maximise your functional ability between therapy sessions.

For more information on how physiotherapy can help treat Cystic Fibrosis, or to book yourself an assessment, please contact us via email at office@physio.co.uk or ring us on 0330 088 7800.




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