Rare disease day 2014!

Science 2014-02-28

The 7th annual rare disease day is here! It is a day held each year to empower patients, their families, advocates, policymakers, industry and other healthcare providers to take action and raise awareness about rare diseases. The event started in Europe, and is now global with over 70 countries participating. To date, the day has helped the advancement of national plans and policies relating to rare diseases.


The theme of this year’s day is ‘care’. In the UK emphasis will be placed on implementing the UK Strategy for Rare Diseases, which was launched at the end of last year. Strategies for improving the outlook for patients with rare diseases focus on research, prevention, diagnosis and screening, treatment, care and support, information for patients and professionals, and commissioning and planning of rare disease services.


In Europe the definition of a rare disease is one that affects 1 in 2,000 people; in America a rare disease is a disease that affects fewer than 200,000 people at one time. Worldwide, over 300 million people live with a rare disease, so although rare diseases are rare on their own, as a collective they affect millions of people.

Rare Disease Day 2014


Some rare diseases have no known cause whereas others are linked to genes, infections, allergies, environmental causes, or degenerative and proliferative changes. Genetic abnormalities account for approximately 80% of rare diseases. For people with rare diseases, it can take a long time before an accurate diagnosis is made. Once diagnosed, it may be a struggle to get the appropriate treatment because the disease is poorly understood. Many rare diseases have no cure, so learning to live with the disease is important for patients and their families.


There are over 6,000 recognised rare disorders. These include diseases that most people will have heard of such as cystic fibrosis (CF) or sickle cell anemia, and also diseases that many people will not have heard of such as Prader-Willi syndrome (PWS) or idiopathic juvenile arthritis.


Cystic fibrosis is a rare disease that can result in the lungs and digestive system becoming clogged with thick mucus. Symptoms include a persistent cough and recurring chest and lung infections. Cystic fibrosis is a genetic disease and has no cure. In 1962 median survival for CF was 10 years, now it’s 41 years!


Recent research has brought new hope to CF suffers; the potential new treatmentinvolves delivery of an enzyme that is able to degrade alginate (a bacterial product) and breakdown mucus in the lung. The enzyme activity helps clear the way for antibacterials to reach the surface of bacteria, and reduces the amount of antibiotic needed. In the future, this treatment could improve the quality of life for those with CF.


Sickle cell anaemia is a hereditary blood disorder and is classed as a rare disease. A characteristic of the disease is sickle (crescent) shaped red blood cells, which carry oxygen less efficiently. The sickle cells have a tendency to clog vessels, and are not replaced as quickly as normal red blood cells leading to anaemia. Sickle cell anaemia is caused by a mutation in the haemaglobin gene. Individuals with one copy of the defunct gene and one normal gene, display both normal and abnormal haemoglobin. Interestingly, the prevalence of sickle cell anaemia in Africa and India can be as high as 30%. This is because malaria is common in these regions, and carrying a single sickle cell gene confers ‘fitness’. For those with both normal and sickle red blood cells the symptoms of malaria are less severe.


Prader-Willi syndrome is a rare genetic disorder characterized by low muscle tone, short stature, cognitive disabilities, behavioural problems and chronic feelings of hunger that can lead to excessive eating and life-threatening obesity. The syndrome is caused by abnormalities in 7 genes on chromosome 15. Now that the syndrome is well characterized children are being diagnosed earlier, and the obesity rate in children with PWS has decreased. A mother of a patient with PWS said:“Parents who care 24/7 should have more readily accessible help when needed, and respect for their care and views”


Idiopathic juvenile arthritis is an example of a rare disease with no known cause. The condition affects children under the age of 16 and is characterized by pain and swelling of the joints. It is a chronic condition, which will be life long. Treatment can be given to reduce the swelling, maintain full movement of affected joints and ease the pain. Getting an early diagnosis is important to help halt progression of the disease, and to allow the affected children to lead a normal active life.


Despite the problems faced by those suffering from rare diseases there is hope for the future in the development of new treatments for rare diseases. For example, since the orphan drug act of 1983 more than 2,700 potential treatments have entered the research pipeline, and 400 of these orphan medicines are now FDA approved. Orphan medicines are products intended for the diagnosis, prevention or treatment of life threatening or debilitating rare diseases. The name ‘orphan’ comes from the fact that the pharmaceutical industry has less interest under normal market conditions in developing and marketing drugs for a small number of patients suffering from rare conditions.  A quote from the ‘orpha.net’ website suggests: “There is no disease so rare that it does not deserve attention.”


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