Today, 28th February 2015 is Rare Disease Day. It is a day to help increase awareness of rare diseases and the impact of rare diseases on peoples lives. It is organised by EURORDIS, which is a non-governmental patient-driven alliance of patient organisations representing 667 rare disease patient organisations in 61 countries.
Watch the official Rare Disease Day video here:
You can find out more information on the Rare Disease webpage, but what is a rare condition? In Europe this is classed as a condition that affects less than 1 in 2000 people. In the EU it is believed 30 million people may be affected by a rare condition; it is believed there are about 6000 out there.
Eighty percent of these conditions are thought to be genetic where the other 20% are caused by infections, environmental factors and allergens.
The problem with rare disease is in the title; they are rare and therefore they can be hard to diagnose and spot. People can go for years with symptoms and often a misdiagnosis. This can be frustrating, isolating and hard to accept. Not all patients have the same symptoms and this can add to the problem. Research and funding can be hard to come by due to the rareness of some of the conditions so it is very important to increase awareness and understanding.
In our job as metabolic dietitians we look after a variety of patients with rare conditions, including ones where diet is the treatment or part of the treatment. Louise has talked about one of the conditions we look after in her blog post – fish odour syndrome but there a many others. These include disorders of amino acids (e.g. Phenylketonuria, Maple Syrup Urine Disease, Tyrosinaemia, Homocystinuria) and protein metabolism (e.g. Urea Cycle Disorders, Organic Acidaemias), fat metabolism (e.g. Medium chain acyl-CoA dehydrogenase deficiency) and carbohydrate metabolism (e.g. Galactosaemia, Glycogen Storage Disorder).
To promote awareness I helped man a rare diseases stand yesterday raising the awareness of this day and explaining to others examples of rare diseases we look after. The header picture for this post shows some of the specialist dietary products some of our patients have on prescription and need, to manage their rare conditions.