Earlier diagnosis of a rare condition and better coordinated care will help improve the quality of life for people with rare diseases and their families, according to the first ever UK plan on rare diseases, published for consultation by the Department of Health.
The consultation document recommends using specialist centres to make exact diagnosis – this will make sure people are treated earlier and in some cases this could save lives. The document also acknowledges that all doctors should have the right training to be aware of the possibility of a rare disease and recommends that the care of patients with rare diseases should be better coordinated. For example, the national service for patients with epidermolysisbullosa, an inherited skin condition provides a ‘onestop- shop’ so that patients do not have to attend separately to see the dermatologist, the dietician, the chiropodist and the dentist etc. This saves patients time, money and hassle by avoiding multiple visits to different clinics and hospitals. Health Minister Lord Howe said: “These proposals will benefit patients and help the NHS to be more efficient and coordinated, as well as save money. A recent unpublished study has shown that better care of patients with rare neuromuscular diseases could save the NHS £31 m per year by avoiding emergency admissions.” Dr Jane Collins, chief executive at Great Ormond Street Hospital, commented: “We welcome the consultation into rare diseases. Taken together, rare diseases are a significant issue in children’s health; 75% of rare diseases affect children and 30% of children with a rare disease die before their fifth birthday. Children with rare conditions are a significant part of our work, at Great Ormond Street Hospital, both in terms of the numbers we see and the research we do. Developments in medical science and technology mean that we need to press forward with research into diagnosis and better treatments.” The consultation on rare diseases was launched following the European Council’s recommendation that every member state of the EU should develop a national strategy on rare diseases. Responses to the consultation will inform the final plan, which is due to be produced by the end of 2013. The UK participates in rare disease research at European level and will be actively involved in the new International Rare Disease Research Consortium (IRDiRC).
