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"Working together we can secure the best use of scarce expertise and resources, maximising the health gain for all those with rare conditions" Alastair Kent OBE, Chair of RDUK


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Rare Disease Day 2011 - Westminster Reception

 Earl Howe, Alastair Kent, Jayne Hughes, Professor Sir John Burn, Julian Huppert MP

On February 28th over 150 patients, family members, clinicians, researchers, commissioners and interested individuals from the rare disease community attended the House of Commons to mark the 4th annual Rare Disease Day event and the launch of our report Improving Lives, Optimising Resources: A Vision for the UK Rare Disease Strategy. This event was hosted by Julian Huppert, former scientist and MP for Cambridge. Attendees also took the opportunity to meet with nearly 25 MPs and Peers also in attendance as well as MP assistants who were attending for those that couldn’t make it.

Before Julian Huppert MP officially started the proceedings, Liz Kendall MP, the Shadow Health Minister, read out a letter on behalf of Ed Miliband MP, leader of the Labour Party. In his letter he highlighted the role politicians must play in overcoming health inequalities to ensure all patients have equal access to medicines, treatments and social services. He concluded by praising attendees for their ‘inspiring efforts’ and wishing all the best for the work ahead. The full letter can be seen here. Liz Kendall MP also praised the work of Rare Disease UK (RDUK) and recalled her days of working with Alastair Kent, Chair of RDUK, on a project on how developments in genetic technologies could affect the NHS, at the Institute for Public Policy Research, prior to becoming an MP.

After further networking, Julian Huppert MP welcomed all guests and thanked everyone for coming. He explained that his interest in rare diseases was sparked by his scientific background and explained that the aims of Rare Disease Day are to raise awareness of rare diseases and emphasise them as a health priority to government. He drew attention to the frequent delays in diagnosis patients with rare diseases experience and highlighted the importance of bringing together all stakeholders to work together to improve the situation. He added that ‘it’s not about rarity, it’s about people’. He confirmed that the Department of Health would be working on their strategy and the need for that strategy to be effective. Finally he encouraged attendees to take advantage of the opportunity to comment on the Health and Social Care Bill to ensure their opinions were heard.

Our second speaker was Jayne Hughes, mother of Amy and founder of Amy and Friends, a support group for Cockayne syndrome. Jayne spoke of her experience as a mother of a daughter with a rare disease. Amy was born unusually small and continued to grow and put on weight very slowly after birth. Concerned, Jayne took her to see a geneticist but no diagnosis was made. At the age of 11, Amy’s health started to deteriorate rapidly. She became unsteady and walked with a stoop, her speech, eyesight and hearing all worsened and she developed a tremor. Jayne took Amy to multiple specialists to try and get a diagnosis but received little help. Jayne explained how, at her wit’s end, she began researching herself on the internet and came across Cockayne syndrome, a premature ageing disorder, which seemed to perfectly sum up Amy’s symptoms, but a test for Cockayne syndrome came back negative.

When Amy was 15, and still without a diagnosis, Jayne took her story to the local newspaper. A doctor in Boston, USA, saw Jayne’s story and contacted her to suggest she attend his clinic as Amy’s symptoms sounded to him like Cockayne syndrome. Thanks to donations from readers of the paper, Jayne was able to take Amy to a Cockayne syndrome conference in Boston. Jayne described how on arrival at the conference, it was obvious to everyone that this was the condition Amy had. She had the blood test, and after 10 years, was finally diagnosed with Cockayne syndrome.

On her return home, Jayne searched for Cockayne syndrome families in the UK, and through setting up Amy and Friends has since found almost 100 families. She now organises an annual Cockayne syndrome retreat for families which enables everyone to come together, discuss Cockayne syndrome and their experiences and gain support from each other.

Jayne explained how she and the other families were heartened by the news that a treatment for Cockayne syndrome had been being trialled in the US, France and the Netherlands and had proven successful in mice and healthy humans. Unfortunately, however, just three weeks prior to Rare Disease Day, they received the news that the drug company had gone into liquidation causing their bubble of hope to burst.

Jayne highlighted the importance of Amy and Friends in enabling families to provide support for each other and meaning that they ‘never walk alone’.

Next we heard from Professor Sir John Burn, Head of the Institute of Human Genetics and Professor of Clinical Genetics at the Centre for Life in Newcastle. Professor Burn began by saying that although individual conditions may be very rare or even unique, experiences of the patients affected by them and their needs are often similar. He said that it is possible to turn even common diseases rare by further breaking them down, and that the health system in general is not very good at dealing with rare or unique conditions. He emphasised that rare diseases collectively are not rare, and that we are dealing with ‘big stuff’.

Professor Burn described how an increase in the bureaucracy involved in conducting research has hindered the advancement of knowledge of rare diseases. He gave the example of research he had been involved in when a patient of his who had cyclindromatosis, a genetic predisposition to numerous tumours of skin appendages, asked if there was any way she could help with furthering knowledge of her condition. This question and the desire to assist enabled Professor Burn to meet her family and get together other patients to participate in research. This lead to the mapping of the gene involved. It has since been discovered that this gene is involved in the cancer pathway, so has implications on common disease too. Nowadays, Professor Burn said, research in this manner wouldn’t be possible due to R&D restrictions. He added that these regulations need to be streamlined and bureaucracy reduced to ensure that rare disease research is optimised.

Alastair Kent

The third speaker was Alastair Kent OBE, Chair of RDUK. Alastair further highlighted the importance of the issue of rare diseases, stating that they are not a trivial problem and in fact affect 3.5 million people in the UK; the equivalent of the population of Birmingham and the whole of the North East. He added that RDUK has found that almost half of all rare disease patients wait over a year for a diagnosis, with more than one in 10 waiting over 10 years. At the very least this represents 1.6 million years of unmet patient health need, an issue which needs to be properly addressed.

Alastair then discussed the RDUK report Improving Lives, Optimising Resources: A Vision for the UK Rare Disease Strategy which covers research, prevention and diagnosis, commissioning and planning, patient information and support, and the delivery of coordinated care for rare disease patients. This report contains 27 broad recommendations and over 85 specific recommendations on what should be included in a UK strategy for rare diseases. Some recommendations can be implemented immediately, others will take longer, but all are achievable and all will improve the lives of those affected by rare diseases.

Over 1000 people contributed to the production of the report, and Alastair thanked all those who had been involved in the process. He added that some examples of excellent practice do exist, and that the challenge now is to make more good things happen for rare disease patients. This will require determination and working together to ensure that an effective strategy is developed.

Alastair then said that it gave him great pleasure to launch the report and hand it over to Earl Howe, the Parliamentary Under Secretary of State for Quality at the Department of Health.

Earl Howe accepts RDUK report from Alastair Kent

Having accepted the report from Alastair, Earl Howe said that he welcomed and supported Rare Disease Day, and was appreciative to RDUK for giving the rare disease community a voice. Earl Howe said that it is vital that the rapid advances in medical sciences are translated into effective diagnostic tests and treatments for rare diseases, and that we must create a system that is fully able to exploit science and technology and enables the UK to remain one of the world leaders in research.

He highlighted the issues of fragmented care and lack of communication, among others, and emphasised the importance of building on the examples of good practice that exist. He commended the RDUK report for its financial realism using money more wisely, and confirmed that the Department of Health will consider the recommendations in the development of their response to the EU Recommendation that requires member states to develop a strategy by 2013.

Earl Howe concluded by saying that rare disease patients should be treated equitably to those with more common conditions, emphasising the commitment in the NHS Constitution that ‘no-one should be left behind’, and that he is determined to ensure that a high quality NHS service exists for all patients, including those with rare conditions.