February 22, 2012

Guest post – Rare Disease Day

A guest post from Dr Rafael Yanez, Royal Holloway, describing their Rare Disease Day event next week.

By Dr Rafael J. Yáñez-Muñoz

Senior Lecturer in Genetics, Royal Holloway, University of London

I work on genetic therapies for rare diseases at Royal Holloway, University of London. February 29th will be international Rare Disease Day, an awareness Day for which we have organised a number of events for the general public at Royal Holloway (www.rhul.ac.uk/rarediseaseday).

Rare diseases are a major health concern even if most of us are unaware of their impact. A rare disease will affect fewer than 1 in 2,000 people, and may be even unfamiliar to your GP. Most of us will have heard of cystic fibrosis or sickle cell anemia, but there are about 7,000 rare diseases. Whether you know or not, it is likely that someone on your street, in your child’s classroom or at work is affected by a rare disease. As few people are affected by each single disease, they are of little interest to the pharmaceutical companies and not much resources are devoted to finding cures. Support for people affected is mostly provided by family-led patient associations that work tirelessly to provide help and advice and fund research on the relevant disease.

However, all together rare diseases affect 6% of people in Europe and take 20% of health care costs. There is a growing realisation of their importance and last year an International Rare Disease Research Consortium (IRDiRC) was set up by the European Union, the US and Canada with the ambitious goals of developing diagnostic methods for most rare diseases and curing 200 of them by 2020. In the UK the Royal College of General Practitioners has recently declared rare diseases, with a particular focus on motor neuron disease, a clinical priority.

Gene and cell therapies offer the strongest hope of a cure for many rare diseases. Several of them, including severe combined immunodeficiencies (“child in a bubble” diseases), X-linked adrenoleukodystrophy, haemophilia and Duchenne muscular dystrophy have either been cured or seen very encouraging results in clinical trials of genetic therapies. All in all, it seems that the tide is turning and rare diseases are starting to get some of the attention, support and clinical success that are long overdue. To sustain these efforts it will critical that the main research funders in the UK prioritise rare disease research and make a  more significant contribution to funding research for rare diseases.

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February 21, 2012

NHS Update

By Eilidh

The last few weeks have seen lots of activity in the campaign against the proposed NHS changes; with Action Duchenne joining health professional groups in calling for the Health and Social Care Bill to be dropped, over 150,00 people signing an e-petition opposing the bill,  influential blog Conservative Home coming out against the bill, (saying it could cost the Conservatives the next election), and the controversy around yesterday’s ‘summit’ at which key groups opposing the bill weren’t invited to.

It’s been great to see so many groups clearly stating that they want the bill to be dropped, with our position recognised by the British Medical Association.

With 58% of people in a survey published today saying they don’t understand the government’s planned changes to the health service, and two thirds saying that they didn’t trust the government’s handling of the NHS, it’s clear that we aren’t alone in being seriously concerned about the bill and it’s impact.

The BBC has produced a helpful guide to the the proposed changes.

Tomorrow, there is a a really important NHS vote in Parliament, as MPs will vote on whether or not to demand the publication of a government report into the risks facing the NHS.

Please take two minutes to sign 38 Degrees action to ask your MP to vote to make sure the report is released.

 

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February 21, 2012

Disability Law Service

By Nick Clark, The Disability Law Service 

Got a problem? Get advice – Disability Law Service

Hi there, my name’s Nick Clarke and I’m the London Development Officer at the Disability Law Service. Eilidh and I met recently and we had a chat about how Disability Law Service might be helpful to people with Duchenne. We thought it would be good to post a short description of Disability Law Service and the ways me might be useful to you.

The main thing that Disability Law Service can offer you is one to one advice from a lawyer.  The types of law we know about are disability discrimination, community care, mental capacity and welfare benefits. It’s probably useful to say a bit about what each of these areas is:

Disability Discrimination: under the Equality Act disabled people should not be treated unfairly or discriminated against at work, or when using shops or services or in further and higher Education. If you need things done differently because of your Duchenne’s you have the right to ask for reasonable adjustments. This could be something like wheelchair access or different working hours or extra support.

If you believe you have been discriminated against we can provide you with Employment and Goods and Services advice. Remember to contact us early though, as you need to make a claim within 3 months (less one day) in employment cases, or 6 (less one day) months for goods and services cases.

There is also the Equality Duty, which applies to all public authorities (like PCT’s, universities, councils and government departments). This duty requires them to look at the impact of their decisions on disabled people and if they are for example ignoring the needs of people with Duchenne’s they could be challenged using this law. Again you need to make a claim within 3 months of their decision.

Community Care: If you need help from social services with things like personal care, shopping and cleaning you should be entitled to a community care support from the council, although they can require you to contribute to the cost of any services they provide.

The NHS can also provide a range of community care services to people with health care needs.  This difference with NHS support is that unlike Council help, it is free.

If you are not happy with any of the services you receive from your local authority or NHS then you can make a formal complaint, if you are not satisfied with its response you can then go to the Local Government Ombudsman or the Health Service Ombudsman.  You may be able to take a case to Court. We can give you advice about what the best thing to do is based on your circumstances.

Mental Capacity is about whether a person has the capacity to make a choice or decision about their life. The Mental Capacity Act provides principles that are applied when deciding whether or not a person has the capacity to make a particular decision. It also has rules for how to obtain lasting power of attorney (allowing you to deal with someone else’s affairs), the Court of Protection and how to obtain information on behalf of persons lacking capacity. We can give you advice on concerns about mental capacity.

Welfare Benefits: There are many benefits and each has its own qualifying rules. If you have applied for a benefit and been turned down, or your benefit has been unfairly reassessed or taken away you only have one month to appeal. We can advise if you have grounds for appeal and the best way to approach the tribunal.

You can call us to book a telephone appointment with a lawyer. We are a national charity and so you can call us from any part of the country. If you prefer you can write or email us. We also have lots of factsheets on our website with easy to understand information about all the areas of law we know about plus other subjects such as blue badges, trusts and driving licences.

Disability Law Service

Monday to Friday 10am – 5pm

Telephone: 020 77919800

Email: advice@dls.org.uk

www.dls.org.uk/advice

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February 9, 2012

Focus on Care Advisor Roles in Northern Ireland and Scotland

By Eilidh

This week I’ve been to the Northern Ireland, for a member’s roundtable on Sunday and the All Party Group on Muscular Dystrophy on Tuesday, followed by Edinburgh for the Cross Party Group on Muscular Dystrophy yesterday.

Both meetings focused heavily on the importance of Care Advisor posts, with important updates given to families about recruitment.

Northern Ireland

Ahead of the All Party Group, on Sunday night, Dean and I held a roundtable meeting at the Malone Lodge Hotel. Eighteen family members attended to discuss issues and concerns that they wanted to highlight at Stormont.

The All Party Group meeting was to form the second session of the inquiry into Neuromuscular services being undertaken by the group, the last session heard from clinicians, with this session to focus on patients and parent’s experiences.

While issues brought up included transition, information sign posting at diagnosis, and the need for a dedicated centre of excellence for Duchenne treatment, much of the meeting focused on the continued absence of a care advisor in Northern Ireland.

Despite agreement at the last APG that families would have the opportunity to input into the job description before recruitment began for this vacant post, no information had been received by any of the members of the group. Members also reiterated the importance of this vital role being split over two posts, to avoid gaps in support during periods of illness/absence.

MLA Robin Swann brought up our concerns about the care advisor post immediately at the start of the meeting, and together with chair MLA Conall McDevitt undertook to ensure that families would have input into the job description currently being drafted.

At the meeting we heard from a number of different people, living with or caring for people with, neuromuscular illness, many of whom had Duchenne.  All speakers emphasised the need for better joined up care, delivered by multidisciplinary teams.

Scotland

Yesterday  I attended the Cross Party Group at Holyrood with National Advocacy Council member John Miller. The group heard from representatives of the health boards who updated us on the planned move from two Care Advisors, (one full time and one part time), to three full time roles.

I brought up the points made in Belfast, and asked if there may be an opportunity for patients and parents to input into the job description of this new post, and potentially to be involved in the interview process. Members of the panel agreed this was something that would now be considered.

After the meeting, John and I met with MSP Jim Edie, who is helping raise interest at Holyrood for the upcoming, ‘Rock and Roll Half Marathon’, in Edinburgh  – you can sign up on our website,  hopefully we’ll have a few MSPs taking part!

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February 7, 2012

The Welfare Reform Bill – An Overview

By Andy

The Welfare Reform Bill is the Coalition’s attempt to tackle the perceived ‘welfare dependency culture’, whilst also cutting £18bn every year. The basic argument made by the government is that those currently on welfare are being given no incentive to seek work as welfare is far too generous – as Iain Duncan Smith put it in March 2011 “we will make sure it pays more to be in work than it does to sit on benefits” (See the Prime Minister’s reasoning here: http://www.thesun.co.uk/sol/homepage/news/4100910/David-Cameron-says-hell-fight-all-the-way-for-benefits-cap). This bill also seeks to simplify the ‘complex’ benefits system(http://www.dwp.gov.uk/policy/welfare-reform). The main aspects of the bill are:

• Universal Credit – a ‘simplifying system’, creating a single payment instead of multiple benefit allowances and tax credits.

• Replacing Disability Living Allowance with Personal Independence Payments.

• Reducing housing benefit entitlement for social housing tenants whose accommodation is larger than they ‘need’ (the “under-occupation” clause).

• The uprating of Local Housing Allowance rates by the Consumer Price Index, rather than local rent levels.

• The reforming of the Social Fund, which provides crisis loans to vulnerable people, into a grant to councils which is not ring-fenced – and therefore can be spent on anything the councils see fit.

• The limiting of the payment of contributory Employment and Support Allowance to a 12-month period.

• Capping the total amount that can be claimed by a household to £26,000.

On the 1st February the seven Lords amendments (unprecedented in modern times) to the Welfare Reform Bill were overturned. These amendments were an attempt to lessen the impact of the Bill (See http://www.guardian.co.uk/society/blog/2012/jan/31/welfare-poverty). Other concessions , however, have been made to the original bill: the period required to qualify for receiving Disability Living Allowance was cut from six to three months and the component of the Disability Living Allowance which pays for transport and travel costs will be retained for those in residential care homes. Yesterday, Iain Duncan Smith offered three more concessions. The first, offers to help families affected by the £26,000 welfare cap for nine months “grace period” by finding a job or moving house. The second is the discretionary fund that will be set up to aid local authorities to deal with ‘difficult cases’ – so that families are not forced to move at a time when they cannot. Thirdly, parents seeking support from the Child Support Agency will not be charged if they fall within the lowest income bracket.

The fall-out and opposition to this bill has been large and diverse, from the bishops and crossbenchers in the Lords e.g. Baroness Grey-Thompson, Lord Mackay and Lord Ashdown to numerous charities, think tanks and MPs. The Housing Future Network (HFN) argue that the ‘under occupancy’ rule will lead to single people on job seekers’ allowance losing around £14 per week – 30% of their disposable income. This, in turn, may lead to overcrowding of certain areas, community dislocation and a danger of rent arrears. On the ESA time limits, Chief Exec of Macmillan Cancer Support said that “thousands of cancer patients – still recovering from their illness…will see their income drop by up to £94 per week from April”. The Responsible Reform Report (http://www.ekklesia.co.uk/files/response_to_proposed_dla_reforms.pdf) outlines the much needed help that DLA provides and the drastic losses that may occur if these £9.2bn cuts to services and benefits go through. Indeed, those families with children on a lower rate of DLA (categorised in a lower bracket) are looking at a weekly reduction of nearly £30 per week.

Now that all seven of the amendments by the Lords have been overturned, the coalition have deployed ‘financial privilege’ – which asserts that the Lords cannot make decisions on bills that have large financial implications – therefore more amendments seem unlikely. The government is now looking for the bill to become law by the end of this parliamentary session in May.

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February 1, 2012

All Party Parliamentary Group on newborn screening for Duchenne muscular dystrophy 25th January 2012

By Andy

Chair: Baroness Thomas of Winchester  Present: Lord Walton of Detchant

Expert Panel:

Dr Juliet Ellis, Freelance Biochemist, Honorary Senior Lecturer, The Randall Division, King’s College London.

Dr Stuart Moat, Director Wales Newborn Screening Laboratory, University Hospital of Wales, Cardiff.

Professor Francesco Muntoni, Chair of Paediatric Neurology, Institute of Child Health, Dubowitz Neuromuscular Centre, University College London.

I began interning with Action Duchenne on Tuesday the 24th January. Therefore, it was with a sense of trepidation that I entered Westminster on Wednesday the 25th January to take notes on the All Party Parliamentary Group meeting on the application for nation-wide new born screening for Muscular Dystrophy.

Having done a fair amount of research and been given a summary of the issues surrounding new born screening for muscular dystrophy, I felt quite well prepared. However, the complexity and subtleties of the many elements of this topic, the depth of discussion and the passion with which this highly emotive issue was approached was both challenging and reassuring.

The meeting began with an outlining of the application process and the history of newborn screening in Wales and the UK. There was then a brief on why the application was currently not recommended by the UK NSC.

The discussion focused on the impact on families, test reliability, medical advantages of newborn screening, current UK NSC criteria for screening, funding, education and the problems surrounding informed consent. These were all addressed in thorough and informed exchanges.

Overall, the great deal of practical, physical and psychological benefit (and opportunity for future research) to new born screening for family and patient was convincing. However, it was also highlighted that implementation required developments in many areas. Reliable nationwide (in NHS laboratories) testing, far better patient and family support and education for GPs, the public and the families involved (especially prior to giving consent) must run parallel with this application.

This process, as Dr Ennis pointed out, at it’s very quickest, could potentially only begin to be implemented in five years. There is a need to develop many other aspects of the process surrounding diagnosing and supporting patients and families effected by Duchenne before a nation-wide newborn screening could be implemented without serious difficulties occurring.

However, as stated, the passion and fervour with which all participants approached this discussion left me in no doubt that these issues, and others that may appear, will be dealt with through an on-going dialogue with the careful implementation of this policy as its goal.

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January 31, 2012

Action Duchenne Joins Health Professional Groups in calling for the Health and Social Care Bill to be dropped

By Eilidh

Press Release 31st January 

Action Duchenne has announced its opposition to the Health and Social Care Bill due to be debated again by the House of Lords from 8th February.

The Health and Social Care Bill represents the biggest change to the NHS since its inception, at a time when public health services are facing additional financial challenges.

Action Duchenne claims that the proposed changes and loss of statutory responsibility for neuromuscular services by the Secretary of State for Health and Primary Care Trusts will result in a threat to services for complex, chronic health conditions like Duchenne Muscular Dystrophy. With no legal responsibility to provide the standards of care specified by the National Commissioning for Neuromuscular Conditions, patients with complex illnesses will not be given the continuity and range of care services required.

The charity also claims that the reform will increase competition and impact communication amongst GP providers, resulting in fragmented and delayed services. Treatment of chronic health conditions will also be affected as GPs review prescribing costly new drugs as they face increased pressure to make savings.

Many professional health organisations, including The British Medical Association, the Royal College of GPs, Royal College of Nursing, Royal College of Midwives and Chartered Society of Physiotherapy have already publicly opposed the bill.

Nick Catlin, CEO of Action Duchenne said, “We are calling for the Health and Social Care Bill to be dropped. We believe that it will worsen the current standards of care for people living with complex neuromuscular conditions, preventing the necessary integrated health and social care that complex conditions like Duchenne Muscular Dystrophy require. 

“We have long campaigned for a national coordinated network of specialist centres that people can access, as well as a statutory body to ensure the recommended standards of care are provided. 

Early diagnosis of neuromuscular conditions, referring to specialist centres and the ability to fund clinical trials are all vital to combat this life wasting disease. The new Bill is a recipe for delayed diagnosis and chaotic and disjointed care as the health service looks to reform service delivery and reduce costs.”

Kathy Weddell, mother of a son with Duchenne, and Chair of Action Duchenne’s National Advocacy Council said,

‘Our GP has never had a patient with Duchenne before – when we were first worried about Isaac and I took him to the GP he said ‘run around the park with him a bit more’. Isaac’s care is provided by the excellent well-co-ordinated NHS team based at the local children’s hospital. I don’t want our GP sending us to cut-price competitors, with eleven different specialists in maybe eleven different locations, with no guarantee of a team working together or any continuity over time, and those competitors would inevitably undermine the provision we’ve already got. The real cost of all this won’t just be the extra millions wasted in emergency hospital admissions, it’ll be the life of my son and thousands like him.’ 

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January 23, 2012

It’s time for a better deal for neurology – email your MP

 

By Eilidh

 

 

 

Last week the Neurological Alliance, (the umbrella group for organisations working with people with Neurological conditions), launched a new campaign demanding the government secure better services for those living with Neurological conditions.

Action Duchenne joined other members of the Alliance last week, when NA’s Chair gave evidence to the Public Accounts Committee hearing on neurological conditions services on 18 January 2012. You can watch the PAC hearing here.

In December 2011, the National Audit Office published a ground breaking report into the state of neurological services in England. The report found that despite an £800 million increase in spending on neurological services since 2006, both quality of care and availability of vital services remain patchy.

The Alliance is calling on the government to introduce a national strategy to ensure that every last penny spent on neurology goes towards improving services and tackling the postcode lottery that the millions of people with a neurological condition face.

Please take a few minutes to email your MP and support the Neurological Alliance’s call by asking them to -

  • Sign an Early Day Motion (EDM) calling for a national strategy for neurology.
  • Write to the Secretary of State for Health, urging him to implement the report’s recommendations.

 

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January 20, 2012

NHS Update – groups oppose the bill.

By Eilidh

The Royal College of Nurses, the Royal College of Midwives and the British Medical Association have all this week stated that they now believe that the Health and Social Care Bill has to be scrapped and called on politicians to, ‘Drop the Bill‘.

The Royal College of Nurses called the bill ‘a serious threat to the NHS” due to recent changes such as the increasing number of private patients that could be treated in NHS hospitals, and that “serious concerns expressed by members have not been addressed‘.

The Royal College of Midwives has called for the Bill to be scrapped, with it’s Chief Ex said “Breaking up what we have, embracing the private sector, and injecting full-blown competition and market forces is not what the NHS needs or what health professionals and patients want…We join the growing chorus of voices calling for the bill to be withdrawn, and the proposed reforms stopped in their entirety ”.

The British Medical Association now calls for the bill to be rejected completely.

Chair of the BMA, Hamish Meldrum, wrote in the Guardian this week stating that the Bill must be dropped and that it  “will result in widespread fragmentation of healthcare and work against integration with social care, not to mention the massive cost and destabilisation caused by yet another major reorganisation at a time of huge financial pressures”.

We’re talking to our members about the bill and how we should respond, please get in touch.

 

 

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January 17, 2012

National Meeting – April 21st in Birmingham

On Saturday April 21st at the Birmingham Hilton Metropole, (B40 1PP), Action Duchenne will be holding a key one day meeting for UK Duchenne families and supporters.

The meeting will discuss the implications of  the Coalition Government’s reorganisation of the NHS, and the impact on Standards of Care for Duchenne. We will assess current patient access to International Standards of Care for Duchenne with examples of best practice from Great Ormond Street Hospital in London.

There will be workshops for parents who have chosen to participate in our ‘Letting Go’ project, which is part of Action Duchenne’s exciting new Transition Project.

You can sign up online now, the conference is free and we will be providing creche facilities. It’s your chance to get involved and support Action Duchenne led National Campaigns in Wales, Northern Ireland, Scotland and England. Get your voice heard!

We already have a number of exciting speakers lined up and will be publishing the agenda online soon.

Please get in touch if you have any questions,

Eilidh

Campaigns and Advocacy Manager

eilidh@actionduchenne.org

020 8556 9955 / 07917051446

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