Rare diseases

Neonatal respiratory distress syndrome (NRDS, also known as hyaline membrane disease) is a life-threatening condition where a baby’s lungs are unable to provide enough oxygen for the rest of the body. NRDS usually only affects premature babies born before their lungs are fully developed. It is a common complication of premature birth, affecting 50% of babies born before 32 weeks and usually requiring admission to an intensive care unit so that a ventilator can support the function of the lungs while they recover and complete their development.9

The outlook for babies with NRDS has improved dramatically in recent years because of advances in treatment and a better understanding of the condition; deaths from NRDS are therefore now rare.

Cystic fibrosis is an inherited condition resulting from a faulty gene that causes internal organs - especially the lungs and digestive system- to clog up with mucus, resulting in frequent severe infections, poor growth and health problems such as diabetes and infertility.

In the UK, around 1 in 25 carry the gene concerned and the disease affects over 8,500 young people, of whom 50% can expect to live beyond the age of 38.10

There is no cure, but many therapies exist that can make the condition easier to live with. Drugs can help to clear and control infections in the lungs and digestive system, such as bronchodilators, antibiotics, steroids and inhaled enzymes to break down the sticky mucus in the lungs. Pancreatic enzymes can help the digestive system break down and absorb food, fat soluble vitamins (A, D, E and K) and nutritional supplements help to compensate for poor digestion, and insulin is often required to stabilise blood sugar levels. Bisphosphonates are sometimes prescribed to treat the osteoporosis that can occur, and it is particularly important for patients to be up to date with all the required vaccinations. People with cystic fibrosis should make sure they have an annual flu jab, as they are more susceptible to complications as a result of infection.

A wide range of regular physiotherapeutic interventions is also available, along with airway clearance techniques.

9 http://www.nhs.uk/conditions/osteoarthritis/pages/introduction.aspx - Accessed 14/06/10
10 http://www.cks.nhs.uk/patient_information_leaflet/Cystic_Fibrosis - Accessed 15/06/10