Researchers have calculated that the cost of the rare disease Friedreich's Ataxia is between £11,000 and £19,000 per person per year. Their work has shown that the costs of rare diseases need to be worked out rather than basing estimates on the costs of other conditions.
Clinicians supported by the BRC are working closely with patients, clinical researchers and Ataxia UK to develop a holistic approach to ataxia care and research. Supported by infrastructure funding from the BRC, they have been able to design more effective research studies and recruit large numbers of patients to participate in clinical trials. The NIHR recently held up as an example of good practice, the close partnership working between Dr Paola Giunti from the UCL Institute of Neurology and UCLH and the charity Ataxia UK.
Results of this latest research into the cost of the disease were published yesterday, on Rare Disease Day, in BioMed Central’s open access Orphanet Journal of Rare Diseases. The journal has called for a better understanding of resource allocation as an important way of reducing the effect of the neurological disease on people’s lives.
Rare Disease Day aims to raise awareness of rare diseases and their impact on people’s lives. Diseases are classified as ‘rare’ if they affect less than one in 2,000 people. Lack of scientific knowledge means that these diseases can be difficult to diagnose and treatment options are limited.
Friedreich’s Ataxia is a rare inherited disease that causes nervous system damage and movement problems. The spinal cord and peripheral nerves degenerate, becoming thinner, and the cerebellum, the part of the brain that coordinates balance and movement, also degenerates. This damage results in awkward, unsteady movements and impaired sensory functions.
This disease, which affects one in 50,000 people, is caused by mutations in the gene encoding the protein frataxin. Although rare, Friedreich’s Ataxia is the most frequent of the inherited ataxias affecting a person’s ability to control their muscles. Symptoms usually begin in childhood, and affected people need continual monitoring to assess with developing problems.
Dr Giunti explained:
“The costs of more common progressive diseases such as Parkinson’s Disease are known but it is not really possible to base budget allocations of one disease on the expectations of another without understanding the differences in need.”
People with Friedreich’s Ataxia need specialists, nurses and carers, and there are direct and indirect medical costs, home modifications and loss of earnings to be considered. The UK spent £11,000 per patient on medical care and the figure increases to £19,000 if including educational support, respite care, and other support in one year.
There are also hidden costs as many people with Friedreich’s Ataxia are children and young adults who are predominantly cared for at home by their families.
Dr Paola Giunti continued:
“Our results show that the needs of people with Friedreich’s Ataxia are different, with different costs, to people with Parkinson’s Disease and that a ‘one size fits all’ strategy is unlikely to provide the best care to people with rare diseases.”
Dr Giunti was recently featured in the NIHR booklet 'Clinical Research Infastructure Collaborations' where she maintained: “The partnership between researchers, patients and patient support groups helped develop a stronger support framework in the guise of the Ataxia Centre and that is extremely valued by patients and is at the forefront of translational research at an international level.”
To view the journal paper click here.
To read 'NIHR: Engaging with Medical Research Charities'
To find out more about Rare Disease Day, please visit www.rarediseaseday.org
