Rare Disease Day falls on the last day of February each year and is marked by more than 90 countries around the world.
Rare diseases are those that affect only a small percentage of the population. The definition therefore covers a broad range of diseases, from more well-known diseases like Cystic Fibrosis and Tourette’s syndrome, through to less well-known diseases like Hamburger disease and Gigantism.
In 2019, Rare Disease Day focuses on bridging the gaps in coordination between medical, social and support services. By bringing these elements closer together, it is hoped that life will be made easier for those people around the world who live with a rare disease, as well as their families.
Progress has already been made, and bridging the gaps has led to the development of new public health policies as well as scientific breakthroughs in diagnostics and treatment.
However, the sheer number and diversity of rare diseases means that the problem remains a large one. The continuing lack of information and scientific knowledge may often result in a delay in diagnosis, and so the approximately 1 in 20 people who live with a rare disease often continue to suffer. This is compounded by the fact that relatively common symptoms can ‘hide’ underlying rare diseases, and so misdiagnosis followed by ineffective or even inappropriate treatment is an all too familiar story.
Unfortunately some patients with rare conditions and their families do still find themselves having to fight in order to obtain help and support because there is a lack of understanding of their condition. Although rare diseases are often difficult to diagnose, and the constellation of symptoms difficult to link, doctors and other treating professionals have a duty to consider all reasonable options in order to make the correct diagnosis.
If you have concerns that your diagnosis of a rare disease has been missed or delayed, or your treatment was mismanaged, then please contact a member of our national team for a free, confidential discussion about your options.
Carolyn Lowe, Partner (Oxford/Milton Keynes) 01865 781019 firstname.lastname@example.org
Karen Reynolds, Partner (Derby/Stoke on Trent/Birmingham) on 0845 274 6830 email@example.com
Jane Williams, Partner (Leicester/Nottingham) on 0845 272 5724 firstname.lastname@example.org
One rare disease may affect only a handful of patients in the EU (European Union), and another may touch as many as 245,000. In the EU, as many as 30 million people may be affected by one of over 6000 existing rare diseases.