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Petition Improve care, support and treatment for children with rare diseases

3.5 million people in the UK will be affected by a rare disease at some point in their lives. 95% of rare diseases have no treatment and 50% of those affected are children; 1 in 3 do not live to see their 5th birthday. These children can wait years for a diagnosis and some just never receive one.

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Care for children with rare diseases is suffering hugely due to COVID19. The current UK Strategy for Rare Diseases ends this year and work to provide a new and modernised framework has stalled. Sign this petition to urge Government to deliver a comprehensive, modern and measurable rare disease framework before the end of 2020, so the most vulnerable children in our society can get the improvements to care and support they so desperately need. Sign to make their lives better and to show you care.

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Government responded

This response was given on 11 September 2020

The Government is committed to improving the lives of children suffering from rare conditions and plans to introduce a new UK Framework by the end of 2020, followed by nation-specific action plans

Read the response in full

COVID-19 has had, and continues to have, a profound effect on the NHS, patients and their families. It has also had a heavy impact on government business, with new processes and structures needing to be established rapidly and some work pausing to enable civil servants to be redeployed in the short term to support the UK’s response to the pandemic. Despite this, the Department for Health and Social Care (DHSC) and NHS England (NHSE) remain focused on the need for continued momentum in improving the lives of rare disease patients and are committed to introducing a new UK Rare Diseases Framework by the end of 2020 for the benefit of all patients; notably children who live with a rare disease. NHSE is also considering the impact of COVID-19 on rare disease patients, including understanding what services can continue to be delivered through virtual communication technology such as telephone consultation and videoconferences. Where services do need to be delivered face-to-face, NHSE will work with providers to ensure that patients have a safe journey through the hospital to the treatment area.

The United Kingdom Strategy for Rare Diseases, published in 2013, set out a strategic vision for improving the lives of patients and promoted actions to ensure that people living with a rare disease, including children, receive high-quality care. The Strategy is due to expire in 2020 and will be replaced by the future UK Rare Diseases Framework. All four nations have signed up to the Framework development, ensuring that we continue to work collaboratively across the UK with a coherent, national vision. The Framework will be followed by nation-specific actions plans that will detail the specific commitments each government will take to meet the shared principles of the UK Rare Diseases Framework.

We have been working hard to prepare for the introduction of the new Framework and have put stakeholders’ views at the front of our policy development. Following the announcement of a ‘national conversation’ on rare diseases in July 2019 by the then Minister for rare diseases, Baroness Blackwood, a survey was launched to seek views on the major challenges faced by the rare disease community. The survey ran for six weeks from 15 October-29 November 2019, and received over 6,300 responses from patients, their families and carers, patient organisations, healthcare professionals, researchers and industry, including those concerning the challenges and experiences of children with rare diseases and their carers. These responses are fundamental to shaping the new Framework to be representative of the views of the rare disease community and will translate to new commitments fitting the needs of UK rare disease patients to deliver better outcomes.

The UK continues to be at the forefront of research into the causes and treatment of rare diseases. The 100,000 Genomes Project, completed in 2018, has actively accelerated progress in the understanding of the genetic basis of rare diseases. The project has provided benefit to many participants and leading to transformational change in the NHS. Building the existing provision of clinical genetics services, NHS England launched a national NHS Genomic Medicine Service in October 2018. The service includes a National Genomic Test Directory for rare and inherited disease which specifies which genomic tests are commissioned by the NHS in England, the technology by which they are available, and the patients who will be eligible to have access to a test.

The National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) has also made excellent progress on its congenital anomalies and rare disease registry, which will continue to improve our understanding of the causes, diagnosis and treatment of rare diseases. NCARDRS continues to engage and work with rare diseases patients and patient groups to strengthen the collection of rare diseases data and will be an important part of the continued work to be outlined in the new Framework.

The UK has also made important strides in the treatments made available for rare disease patients. The Early Access to Medicines Scheme (EAMS) was launched in 2014 with the aim of giving people with life threatening or seriously debilitating conditions from across the UK early access to new medicines that do not yet have a marketing authorisation, when there is a clear unmet clinical need. Over 1,400 people have benefited from early access to new treatments through EAMS, including people with conditions such as Duchenne muscular dystrophy and haemophilia. Last year Managed Access Agreements have also allowed for access to drugs for patients with rare diseases – such as Brineura for Batten Disease and Spinraza for Spinal Muscular Atrophy. NHSE continues to work closely with the National Institute for Health and Care Excellence (NICE) and the pharmaceutical industry to optimise the numbers of treatments available to patients, including children, with rare diseases.

Department of Health and Social Care

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