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Luke Allen Maples, 2003-2005 (CF)

 
Olivia Grace Maples, born September 2005 (CF)

 
Jordan Lynn Maples, born February 2005 (CF)

Cystic fibrosis symptoms

Cystic fibrosis is a "multi-system" disease, meaning that it affects many body organs. However, most of the symptoms are to do with the lungs and the digestive system, including:

• very salty-tasting skin;
• persistent coughing, at times with phlegm;
• frequent lung infections;
• wheezing or shortness of breath;
• poor growth/weight gain in spite of a good appetite; and
• greasy, bulky stools.

Lungs

In a healthy person, there is a constant flow of mucus over the surfaces of the air passages in the lungs. This removes debris and bacteria. If you have cystic fibrosis, this mucus is excessively thick and sticky and cannot perform this role properly.

The sticky mucus also provides an ideal environment for bacterial growth. This can put a person with cystic fibrosis at risk of getting bacterial chest infections and pneumonia. If these infections are not treated early and properly, they can be very difficult to treat.

Digestive system

Cystic fibrosis also affects the digestive system. In a healthy person, the pancreas produces chemicals (enzymes) which pass into the gut as food leaves the stomach. These enzymes break down the fat.

If you have cystic fibrosis, the pancreas does not produce enzymes. Without these enzymes, the fat in food is not properly digested and it is difficult to gain weight. The faeces contain an excess of fat and are oily and very smelly.

Other conditions associated with cystic fibrosis include:

• polyps (small growths) in the nose
• diabetes, because cystic fibrosis can damage the pancreas
• infertility in men, because the tube that carries sperm, the vas deferens, may become blocked
• fertility problems in women, because cystic fibrosis may cause nutritional problems and underweight women are more likely to have irregular menstrual cycles
  

Causes

Cystic fibrosis is an inherited, or genetic, condition.

Cystic fibrosis occurs because of a faulty gene called the cystic fibrosis transmembrane conductance regulator - or CFTR gene. Cystic fibrosis is an autosomal recessive disorder. This means that in order to develop the condition you need to inherit two cystic fibrosis genes, one from your mother and one from your father. If you inherit only one cystic fibrosis gene, you are called a carrier and do not have symptoms.

When both parents are carriers, with each pregnancy there is a:

• 1 in 4 chance of having a child with cystic fibrosis
• 1 in 2 chance of having a child who is a carrier
• 1 in 4 chance of having an unaffected child

There are several different types of genetic mutation which are associated with different degrees of severity of the disease.

Diagnosis

About one in five people with cystic fibrosis are diagnosed at birth, when their gut becomes blocked by extra thick meconium (the black tar-like bowel contents that all babies pass soon after birth). This bowel blockage may need surgery.

Just over half of people with CF are diagnosed as babies. This is because they are not growing or putting on weight as they should due to the digestive system not breaking down the fat content in food.

Neonatal screening

Newborn babies are routinely screened for cystic fibrosis using "blood spot screening". About five days after your baby is born your midwife will prick your baby's heel using a special device to collect some drops of blood. The blood sample is also tested for two other conditions, low thyroid function and phenylketonuria.

Sweat tests

If blood spot screening indicates that your baby may have cystic fibrosis you may be offered a sweat test. People with cystic fibrosis have a large amount of salt in their sweat, and measuring the amount of salt in the sweat can help determine whether or not your baby has cystic fibrosis. A small amount of sweat will be collected from the skin on your baby's arm or leg. You will be given the test results usually later the same day.

If the sweat test indicates that your baby has cystic fibrosis, your doctor will discuss available treatments. You and your baby will be referred to a team of health professionals which often includes a specialist doctor, a specialist nurse, a dietitian and a physiotherapist.

Treatment

There is currently no cure for cystic fibrosis. There is a lot of research under way to try to find a cure for cystic fibrosis lung disease through gene therapy. Current treatments aim to control the symptoms and have two main aims:

• to improve nutrition by providing supplements containing enzymes to help digestion
• to reduce chest infections with frequent physiotherapy and either occasional or continuous antibiotics
  

Physiotherapy

If you have cystic fibrosis you will need daily chest physiotherapy, which involves vigorous massage to help loosen the sticky mucus. Parents of a child with cystic fibrosis are taught by hospital staff how to do this. Older children and adults with cystic fibrosis can be taught to do this for themselves.

Enzyme therapy

With each meal or snack, most people with cystic fibrosis need to take replacement enzymes such as pancreatin (eg Pancrex). These supply the missing pancreatic enzymes and allow proper digestion. People with cystic fibrosis normally need vitamin and mineral supplements too.

Other cystic fibrosis-related therapy

There is a range of other possible treatments, according to each person's condition. These may include:

• antibiotics to counter lung infections
• mucolytics such as dornase alfa (Pulmozyme) to make the sputum less sticky
• dietary vitamin supplements, especially A, D and E
• asthma therapy
• insulin for diabetes
• in severe cases, a lung or heart and lung transplant operation

People with cystic fibrosis may also need help to overcome fertility problems as well as counselling to help cope with the psychological aspects of the illness.