Doctors often have difficulty identifying the symptoms because they are so rare.
Support groups have also identified a shortage of diagnosis and treatment facilities as another cause of delay. The survey of 20 support groups in the UK, representing more than 3,000 families, has been published to launch Rare Disorders Awareness Week. For many of these disorders there are treatments available which could at least alleviate, if not cure, the condition. Not to provide this is both shortsighted and more costly in the long term. There are more than 8,000 conditions worldwide which are classed as rare disorders.