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New approach to care for patients with rare disease

rare diseases dr graham lipman
rare diseases dr graham lipman

Pioneering new centre in Birmingham leads the way in rare disease care Birmingham Health Partners, putting the NHS rare disease strategy into action.

Dr Graham Lipkin is Consultant Adult Nephrologist and leads the Rare Diseases Centre which will be one of the first departments in the new Institute of Translational Medicine (ITM) Birmingham. This is the first comprehensive centre of excellence for rare diseases of its kind in the country, with a radical new approach to care that experts hope will dramatically improve treatment and outcomes for people with rare diseases.

A unique collaboration of expertise and clinical practise

The ITM is a £24 million project from Birmingham Health Partners, which pools expertise and clinical practice from University Hospitals Birmingham NHS Foundation Trust, Birmingham Children’s Hospital and the University of Birmingham. The project is being supported by the Department for Business, Innovation and Skills as well as the QEHB Charity, Birmingham Children’s Hospital’s fundraising team and the University’s Circles of Influence scheme.

The location and nature of the partners mean that the ITM Birmingham and the Rare Diseases Centre within it offers the possibility of genetic research into stratified medicines and future potential for personalising drugs according to an individual person’s genes.

There are more than 6,000 rare diseases and one has to take them on in a logical and organised way. We have a strategy to extend the breadth of disease, by starting off with very rare diseases and gradually pulling in more in a manageable and organised way. The diseases are very disparate but the commonality is that the same model of care works across all of them.

Serving the needs of patients with rare diseases

As outcomes for children with rare diseases has improved, the number of young adults referred has dramatically increased representing a new challenge for adult medicine. The diseases are usually inherited but often these conditions affect many organs of the body and the current medical model of seeing one specialist at a time was inadequate. I noticed quite a long time ago that these patient groups were receiving incomplete and unnecessarily costly care across the NHS. This was leading to unsatisfactory outcomes for patients and their carers.  One mother and her two sons who have a rare kidney disease which also affects hearing and eyesight were having to attend more than 70 appointments a year. Patients were being seen by multiple doctors at different hospitals with no specialist expertise in the condition. It became clear that care for people with rare diseases was fragmented, disjointed and a postcode lottery with little research to improve patient outcomes.

At Queen Elizabeth Hospital Birmingham (QEHB) we started off with very dedicated care arrangements. We employed people I had personally never worked with before, like youth workers and psychologists, and started seeing more patients with rare diseases. This served the needs of the West Midlands very well. The region is a diverse one, and this diversity means we see more rare diseases than other areas of the country might do.

We developed into a one-stop clinic model. We have specialists present along with health professionals and patient support groups who choose our venues to hold meetings. People who have appointments at the centre have all of their tests, scans and investigations pre-booked.

New model for immediate patient care

By integrating all of the relevant specialists and health professionals into one clinic for a given disease and including pre-booked diagnostics tests, there is an immediate benefit to the patients by reducing fragmentation of care and, in the long term, preventing unnecessary complications. There are surveys by Rare Disease UK and the Genetic Alliance that show patients support this model of care and that patient satisfaction is very high. It is also in line with the Department of Health’s rare disease strategy, which was published in December 2013.

Another key benefit is that we can integrate our work with clinical research being done across the three organisations into rare diseases. One of the biggest challenges in this area is getting enough patients together in one place to enable research, and so developing new treatments is very slow and difficult. Patients are desperate for more research and rightly so. But here in Birmingham, basic science research being done at the University of Birmingham can be fed through to either QEHB or Birmingham Children’s Hospital as soon as is practicable, allowing for clinical trials to be set up more quickly, and new developments to benefit patients within a rapid timeframe. There is also the potential to develop registries of patients with different conditions and this provides completely new opportunities for research with the pharmaceutical and biotech industries, making Birmingham a real pioneer in their field.

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