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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 - Scottish Parliamentary Reception

On Tuesday 22nd February, over 110 delegates gathered in the Main Hall of the Scottish Parliament to mark Rare Disease Day 2011 in Scotland. The event was attended by a wide range of individuals including representatives of patient support organisations such as the Myasthenia Gravis Association, Action Duchenne, Turner Syndrome Support Society, Ataxia UK and AGSD UK. We were also pleased to welcome representatives of NHS Scotland, NHS National Services Division, pharmaceutical companies and the Scottish Medicines Consortium. A special thank you must be extended to the large number of guests with families affected by a rare disease who were in attendance. We are extremely grateful to Jackie Baillie MSP, Shadow Cabinet Secretary for Health and Wellbeing, for taking the time to host the event particularly during the busy period in the run up to the Scottish Parliamentary elections.

Guests at Holyrood

Ms Baillie welcomed delegates to the third annual Scottish Parliamentary Reception organised by Rare Disease UK. Ms Baillie expressed her surprise that rare diseases affect over 300,000 people living in Scotland and that across the UK 1 in 17 people will be affected by a rare disease at some point in their lives. In light of these figures, Ms Baillie acknowledged that collectively, rare diseases are not rare at all. As Convenor of the Cross Party Group on Learning Disability and a member of the Cross Party Group on Muscular Dystrophy, Ms Baillie explained that she had an awareness of the problems of the National Health Service in Scotland but also acknowledged the positive work in the field of rare diseases in Scotland, such as the Scottish Muscle Network. The Scottish Muscle Network has recently been reviewed by the National Services Division, which showed that benefits of the network included increased life expectancy and quality of life for Duchenne muscular dystrophy patients, improved care for patients with other neuromuscular diseases, and delivery of significant benefits to the NHS in Scotland. Ms Baillie emphasised the importance of using these examples of good practice to shape services for rare diseases in the future. Ms Baillie welcomed RDUK’s report Improving Lives, Optimising Resources: A Vision for the UK Rare Disease Strategy and acknowledged that the 27 broad recommendations of the report should be strongly considered by the current administration. Ms Baillie kindly introduced the first of the evening’s speakers, Ms Karen Ferguson.

Jackie Baillie MSP

Karen Ferguson, is the founder of Confer, the Scottish charity for neurofibromatosis. Karen told delegates of her own personal experience of neurofibromatosis and the difficulties she encountered when her son, now 25, was first diagnosed. The neurofibromatoses, as Karen explained, are rare genetic disorders of the nervous system that primarily affect the development and growth of the nervous system. These disorders cause non-cancerous tumours to grow on nerves (neurofibromas) and produce other abnormalities such as skin changes (café-au-lait patches) and bone deformities (scoliosis). Karen discussed the educational difficulties, such as learning difficulties, speech difficulties and developmental delays associated with neurofibromatosis and acknowledged the failures by the education and social care system in addressing the needs of families with neurofibromatosis.

Karen shared her personal experience of the education system and the challenges she faced as her son was growing up. Whilst acknowledging that there has been positive change in recent years, Karen highlighted that it is still the case that many children with the condition are not afforded sufficient support and understanding during their school years and that it is a constant struggle for parents to ensure adequate support is provided. As neurofibromatosis is rare, often it is the case that teachers are unaware of the condition, or not wise to the extent of learning difficulties that can be involved. Karen also explained that many young adults with neurofibromatosis are not given suitable guidance after leaving school, often being encouraged to attend college to achieve qualifications that will not help them succeed in finding suitable employment.

Karen gave emphasis to the need for a coherent strategy for employment support for those with neurofibromatosis. Without this support, Karen highlighted that often those with the condition enter the workforce only to be unable to cope with the demands of the job and fall out of work. In this situation the emotional adjustment required can often be too much to cope with for people with neurofibromatosis and the impact on their family can be very significant. Karen ended her speech with a hope for the future, that an effective strategy be put in place to ensure that individuals with neurofibromatosis are afforded sufficient support in education and employment.

Alastair talking to Karen Ferguson

Our second speaker, Dr Lindsay Mitchell took to the lectern to discuss the situation effecting patients with paroxysmal nocturnal haemoglobinuria (PNH) in Scotland. Dr Mitchell began by telling the audience a little about this very rare condition, a potentially life-threatening disease of the blood characterised by complement-induced intravascular haemolytic anaemia (anaemia due to destruction of red blood cells in the bloodstream), red urine (due to the appearance of haemoglobin in the urine) and thrombosis. Patients with the condition experience extreme tiredness, shortness of breath, and palpitations. Patients may also report abdominal pain, difficulty swallowing and pain during swallowing, as well as erectile dysfunction in men.

Dr Mitchell explained that blood tests can be done to diagnose the condition before explaining her involvement with the condition. Early in her career as a Consultant Haematologist, Dr Mitchell encountered a 19 year old patient who was so ill, she was convinced that she may die in front of her. This particular case led to Dr Mitchell’s interest in the condition and her involvement with Professor Hillmen and Dr Kelly based in Leeds. Through this involvement, a Scottish PNH clinic has been established at Monklands Hospital in Airdire allowing patients from across Scotland to meet with Professor Hillmen, Dr Mitchell and Dr Kelly on a quarterly basis.

Dr Mitchell also discussed the treatment available for PNH which can dramatically improve the standard of living for patients. Dr Mitchell described the experience of a particular patient, an engineer with a high level job and a young family who fell ill with PNH and was unable to continue with her role and was often too weak to take her children to school. After a fight to secure funding for treatment (at present PNH treatment is funded through the National Service Divisions Risk Share Agreement, and it is at the discretion of Health Boards as to whether or not patients are accepted for treatment), this particular patient received treatment and saw a dramatic improvement in her condition. She is now able to take her children to school and is currently, with the help of Genetic Alliance UK, taking steps to form a patient support group for PNH patients in Scotland. Dr Mitchell finished by asking for RDUK’s help in calling on the Scottish Government to ensure funding for treatment for all PNH patients in Scotland.

Next we heard from Alastair Kent OBE, Chair of RDUK who re-emphasised that rare diseases collectively aren’t rare and will in fact affect a very large number of people at some point in their lives. He talked about RDUK’s report Experiences of Rare Diseases: An Insight from Patients and Families which found that nearly half of all rare disease patients have to wait over a year for a diagnosis, with 20% having to wait up to five years, and one in 10 waiting over 10 years. This, Alastair said, represents at the very least 80,000 years of unmet patient need.

Alastair reminded the audience how the UK government had committed to developing a strategy for rare diseases when it signed the Council of Minister’s Recommendation in June 2009 which requires each EU member state to develop a strategy by 2013. He added that although in the UK health is a devolved responsibility, it is important that all the home nations work together to develop an effective strategy for the UK as a whole. RDUK’s Improving Lives, Optimising Resources report has five chapters looking at research, prevention and diagnosis, commissioning and planning, patient care, information and support and delivering coordinated care. It sets out 27 broad recommendations and over 85 specific recommendations targeted at relevant organisations to improve the experiences of those living with, or working in the field of, rare diseases. Alastair said that some of these recommendations can be implemented easily and with little associated cost, others may take longer but this should not be an excuse for not addressing the issues.

He added that implementation of the recommendations in the RDUK report would bring significant benefits to the NHS in Scotland by ensuring a more effective use of resources and that patients don’t rattle around the system ‘like bees in a bottle’. Alastair told us that this report is based on the largest ever consultation about rare diseases in the UK and over 1000 people contributed to its development. He highlighted that the report also includes examples of good practice in Scotland, such as the Single Gene Complex Needs Project, and said that it is important that these are built on to ensure good things can happen for all those affected by rare diseases. He ended by saying that RDUK looked forward to working with the Scottish government to implement the proposals, thanked all those that contributed to the report and presented it to Will Scott, from the Scottish Government’s Long Term Conditions Unit.

Dr Lindsay Mitchell, Will Scott, Karen Ferguson, Jackie Baillie MSP, Alastair Kent

Will began by passing on apologies from the Cabinet Secretary for Health and Wellbeing, and praised the RDUK report saying that it is all the more powerful as it is routed in patient experience. He added that the Long Term Conditions Unit in Scotland views RDUK as a partner to achieving the aims of the strategy. He then went on to highlight numerous examples of good practice in Scotland, on which further models should be based.

In terms of research, he gave the examples of the Scottish Muscle Network working in collaboration with Treat-NMD; and of the Chief Scientist Office, part of the Scottish Government Health Directorates, which supports and promotes high quality research aimed at improving the quality and cost-effectiveness of services offered by NHS Scotland and securing lasting improvements to the health of the people of Scotland. He added that there are also many registries of rare disease patients in Scotland which can assist in research, such as the Scottish Renal Registry.

Will gave details on the Scottish government’s approach to anticipatory care which is hoping to improve the diagnosis of rare disease patients, as well as the managed clinical networks which create better linkages between all professionals involved in a particular condition and can again speed up diagnosis.

He spoke of the work of the National Services Division (NSD) who is responsible for the commissioning of specialist services in Scotland, and welcomed those NSD representatives in attendance. He added that there is also a role for the four regional planning groups in commissioning, and that there must be partnership between charities and the health department.

Will stressed the importance of appropriate psychological and emotional support for rare disease patients and said that the Long Term Conditions Alliance Scotland will shortly be publishing a report on this. In terms of coordination of care, he said that valuable lessons on care coordinators and care plans can be learned from the Single Gene Complex Needs project.

He ended by saying that the Scottish government has published its Quality Strategy and this creates a good basis to work with RDUK to take forward the recommendations.