Wednesday 6 June 2012
Milestone reached in the fight against rare diseases
The Muscular Dystrophy Campaign fights for what is most important to people affected by muscular dystrophy and related conditions, from influencing the way research is conducted to campaigning for quicker diagnosis. We have long pioneered the best ways to research, diagnose and treat rare diseases, which is why we have shared our views with the Department of Health on the new UK plan for rare diseases which was launched in February.
The plan tackles some of the problems in the research, diagnosis and treatments of rare disease. We are delighted that many of the changes for which we have campaigned are included in the plan.
The plan aims to enhance the quality of life for individuals with a rare disease - those that affect fewer than 5 in 10,000 of the population - by providing better coordinated care. We are pleased that the plan recognised that, with better co-ordinated care, the NHS could save the £31million per year by avoiding unplanned emergency admissions for people with muscular dystrophy and related conditions, as we highlighted in our Invest to Save report.
You can read the plan on the Department of Health website.
Improving the diagnosis process can help reduce distress caused to people waiting to hear whether they have a rare disease and lessen the time it takes to get answers.
Commenting on his experience of the diagnosis process, Mark Field from Droitwich said:
Our son Murray was diagnosed with Duchenne muscular dystrophy in 2005, three years after we first noticed his symptoms. Those three years were filled with misdiagnoses, tests and worry. Having a quick diagnosis would have meant Murray's condition could have started to be treated three years earlier. I am delighted that the UK Plan for Rare Diseases addresses the need for quick diagnosis and backs the Muscular Dystrophy Campaign's fight to get the best diagnosis and treatment for Murray and people like him.
Whilst we welcome many of the suggestions made in the plan, we are backing the call from the Association of Medical Research Charities that specialised funding for studies into rare diseases is needed. We have written to the Department of Health with suggestions about how the plan could be improved to benefit people with neuromuscular conditions.
For more information about the UK Plan for Rare Diseases, please get in touch:
020 7803 2853