Up The Farway Tree

CF WEEK:   8th - 14th May

This week is national Cystic Fibrosis Week so I thought I should perhaps dedicate a post and take the opportunity to raise some awareness!

What is Cystic Fibrosis?

CF is one of the UK's most common life threatening, genetic condition, which means you are born with it.  1 in 25 of the population carry the CF gene but you need to have two copies to have the condition.  If both your parents are 'carriers' of the gene there is a 1 in 4 chance they will both pass on the faulty gene and you will have CF.  If you inherit one gene you are called a carrier and do not have the disease.

How does it affect the body?

The faulty gene is one that controls a certain protein (called CFTR) in the body which controls salt and chloride movement in and out of cells.  When this isn't working properly it causes mucus to be sticky and thick - this occurs mainly in the lungs, digestive system and sinuses.  It also causes the sweat to be very salty. People with CF can be affected in different ways and to different degrees of severity because other 'modulator' genes can result in the faulty CFTR protein working more or less effectively  - it's not very straightforward!

Lungs:   In the lungs the thick sticky mucus is the ideal breeding ground for bacteria.  Repeated chest infections cause damage over the years, causing formation of lung cysts ('Cystic') and scarring ('Fibrosis').  The lungs develop chronic infection, which causes ongoing damage and inflammation.  On top of this people with CF have 'acute exacerbations' where they have more severe infection.  The symptoms in lung disease are chronic cough, producing mucus, chest pain, shortness of breath and sometimes coughing up blood.  The damage over the years eventually causes so much damage that the lungs can no longer work properly and the person has 'respiratory failure'.  It is at this stage that transplant is considered.  

Digestive System:   The pancreas normally produces enzymes which digest food but in CF the channels are blocked with mucus and the enzymes can't get through, so food cannot be absorbed.  This results in malnutrition and weight loss.  In the bowel itself the thicker mucus can sometimes cause obstructions - called DIOS - this causes painful cramps and a swollen stomach.  Acid reflux also results from chronic coughing.

Liver:  Rarely people with CF have liver disease (around 8%)  thought to be due to blockages in the small liver ducts.  This can be severe and some people require a liver transplant.

Sinuses:  The sticky mucus breeds bacteria causing chronic infection and inflammation.  This results in pain and pressure over the sinuses.

Joints:   People with CF can suffer from CF arthritis.   It is not well understood but thought to be related to an over active immune response causing inflammation in the joints. 

Diabetes:  Over the years the pancreas becomes more damaged and has problems releasing enough insulin to control blood sugars.  A significant proportion of people with CF develop CF Related Diabetes, often in their 20s, and require insulin.

Osteoporosis:   Most people with CF have thin bones and it might be related to malabsorption issues in early life.  This makes them more prone to breaking bones - often ribs due to excessive coughing.

Male infertility:  Males with CF do not have the tube that carries sperm (the vas deferens) so are usually infertile.  They can however have children using certain IVF techniques.

Treatments

The CF treatment regime can be harsh and time consuming - and something that has to be carried out every day for life!  People are at varying levels on the treatment scale, although it is a progressive illness, so most people will gradually have more treatments added over the years.

A possible regime of medications for one day would include:

• Digestive Enzymes - taken with all meals/ snacks.  I take 25/day - some people take over 100/day.
• Prophylactic Antibiotics - oral tablets to prevent infection and control chronic infection
• Vitamins A, D, E and K - we don't absorb these properly so need supplements
• Anti-reflux (e.g omeprazole) - to prevent reflux and also help digestive enzymes to work
• Calcium and Bisphosphonates - these are to help bone strength
• Steroids - these can be used in acute situations but sometimes people need them long term
• Insulin
• Ursodeoxycholic acid - for those with liver disease - used in early stages to prevent progression
• Pain killers - most people with CF have a selection of pain killers - for sinus, chest or joint pain.
• Salt tablets - taken for vigorous exercise or in hot climates to prevent excess salt loss through sweating
• Nebulised Antibiotics  - taken twice daily to prevent/control infection
• Nebulised Hypertonic saline - makes the mucus less sticky  - up to 4 x day
• Nebulised Dnase  - breaks down the mucus to make it thinner, taken once a day.
• Nebulised ventolin/inhalers - a lot of people with CF have some asthmatic like symptoms and need nebulised bronchodilators and a variety of inhalers.
• Laxatives and drugs to break down mucus in bowel
• Oxygen is used in later stages of CF when the lungs cannot provide enough for the body's needs.  At this stage some people may require non-invasive ventilation, which is a special mask that helps them breath over night or during infections.

My medication cupboards with about 6 weeks of drugs - post transplant.  Remember that pre transplant you would need to add another at least another three nebulised drugs, four inhalers,  30 x 1 litres bottles of over night feeds, oxygen cylinders, boxes of IV antibiotics with all the accompanying needles/syringes etc.  It didn't fit in these wee cupboards before!

Intravenous Antibiotics - these are used for more acute and severe infections.  The drugs are given into a vein, usually 2-3 times/day.  Patients are often trained to administer these at home, either through a line in their arm or a indwelling device surgically implanted under the skin, which goes into a large blood vessel and can be accessed when IV medications are needed.   Some people only rarely need these drugs but most need a few courses a year, and as infections become more frequent it can be more than 6 times a year.  (Pre transplant I would only have about 2 weeks between courses of IV's)

Physio - this is probably the most time consuming treatment.  Carried out at least twice a day but often more, and as illness progresses, sessions become longer.   Most patients can use breathing techniques and a variety of aids  - these are usually devices you blow through to help open the airways and allow mucus to be cleared.  Sessions can be a quick 10 mins if chest is clear to well over an hour otherwise.  Pre transplant I could spend about 4 hours a day doing physio and my chest was never clear!  Exercise is also important and is part of the physio approach.

Nutritional - despite enzymes, people with CF are often underweight as they are burning up calories fighting infection but struggle to get the benefit of calories they take in.  They will often need high calorie drinks and are encouraged to follow a high protein, high fat diet.  In more severe cases they may need over night feeding, where extra calories are fed into the stomach overnight - through a nasogastric tube (passed down nose) or PEG tube (surgically inserted directly into stomach).

Post transplant - mostly need the same tablets as above but usually don't need physio and nutritional supplements.  Continue on nebulised antibiotics to prevent infection but don't need the mucus thinning drugs because the new lungs do not have CF sticky mucus.  Will be on long term steroids and usually two immunosuppressant drugs for life.   Often need drugs to lower blood pressure and cholesterol which rise due to medications used after transplant.

What is the outlook for people with CF?

Around 50% will not live beyond their late 30's  - however this also means that there are people living into their 40's and 50's ...and some older!  Life expectancy has improved dramatically over the years.  It was probably still in the teens when I was born and has increased steadily due to new treatments.  However too many people are still dying very young and there is a lot of research still needed.    Life expectancy after transplant is difficult to predict because current statistics are based on transplants 10 years ago - with around 50% surviving 10 years.  Transplants today may last longer and there are people still going strong who had transplants over 15 years ago.

The Future

Research is ongoing into new treatment, new antibiotics to treat emerging resistant infections and better overall care across the UK.   There has been a lot of work on gene therapy, looking at replacing the faulty gene but this is still not in a usable form.  They are able to replace the CF gene in mice and have done this in human lungs - but they need a safe way of getting this into the lungs longer term and a way of making it last.   Research continues and hopefully we will continue to progress with treatments over the coming years.

Any other questions - please leave me a comment!!