by | March 15, 2012

A life worth living – the film

By Action Duchenne trustee  Jon Hastie

This week saw the completion of the final cut of my road-trip movie, A Life Worth Living: Pushing The Limits Of Duchenne. After a series of pre-screenings with sponsors and close friends, where we received some great feedback about the film, director Annie and editor Rinku have worked hard to bring it all together. You can see the 2 minute trailer here: 

The film is now looking great – and we’re now finalizing the DVD with subtitles, artwork, etc. to create a professional product which we can sell to raise money for research and support for adults living with Duchenne. We anticipate the DVD to be available from our website in late April.

Next up, we will be entering film festivals to further raise awareness of the project and Duchenne in general. This film aims to inspire a new generation of people with Duchenne to show what is possible. But it is also for the rest of the world, and just how valuable life is and the remarkable feats that can be achieved by disabled people with the right support and opportunities.

For me, the making of a life worth living has been life changing. At the beginning of the movie I say that I want to inspire a new generation of Duchenners to push the limits of what they can achieve. Little did I realise how much the journey and the people I met would inspire me as well. Back in August 2010, when it all started, I had already achieved two big life goals – getting a Ph.D., and securing paid employment. But I was still depending on my parents for care and support. It was not until I met the stars of the film that I found the inspiration and strength to push for Independent living. Now I’m in my own flat, and I’m loving my new found freedom. I truly hope that other people can get from this film even just a small measure of the inspiration that producing it has given me.

A Life Worth Living is no ordinary road movie. It’s a fun, inspiring, poignant and surprising rock ’n roll journey that takes us into the lives of guys who, against all the odds, show us just how valuable life is.

You can keep track of the project at www.alifeworthlivingfilm.com

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by | March 15, 2012

APPG for Muscular Dystrophy Inquiry session: Newborn Screening for Duchenne muscular dystrophy – the patient and family perspective

By Andy

March 13th 2012

Chair: Dave Anderson MP (Chair of the APPG for Muscular Dystrophy)

Giving evidence on the panel:

  • John Burke
  • Phillippa Farrant
  • Jane Field
  • Jeanette George

This session was a follow-up to previous APPG sessions on this subject in response to the submitted application to role-out newborn screening across the UK. The discussion centred around families’ experiences of the diagnosis procedure. The panel consisted of families that had been diagnosed at different times – Murray Field at 7 and a half years, Dan Farrant at 8 months, and Alex George and Seth Burke (both through the Welsh new born screening process) very early.

All agreed that there was a greater need, at whatever age the diagnosis was given, for NHS staff to be better educated about rare diseases like Duchenne. They also agreed that there should be a process for families to go through once diagnosis was given, including information, psychological support and a single neuromuscular care advisor assigned to the family for continuity and help. In short, that diagnosis is an incredibly challenging time for families and diagnosis support and pastoral care is far from adequate in many cases.

Surrounding the issue of consent, John Burke made an impassioned case for a far higher degree of information given to parents before they were asked to give consent to the test. At the moment he felt that many families did not know what they were giving consent to and that the ramifications of the results of these tests were not fully understood. Therefore, for informed consent to be given for newborn screening, a family should be given a booklet or leaflet describing the diseases that the test was for well before birth. This was agreed upon by the rest of the panel.

However, on the subject of whether newborn screening was a good idea, the panel were divided. Most felt that it would help with planning for the child’s and families future – as well as giving them an opportunity to know whether or not to go ahead with having more children. Jane Field felt that, after seven and a half years of ‘not knowing why there was something wrong’ and false diagnosis, an early diagnosis would have allowed for her to explain Murray’s problems and be far more aware of the challenges that he was facing. The research into new treatments (such as Exon skipping) which would be effective for newborn children was also taken into account.

John Burke believed that new born screening created issues surrounding bonding. Therefore, he advocated the possibility of testing after a year or so, given the inability to start care before the child becomes symptomatic and the lack of evidence on the advantages of starting before this stage. However, he also held that new treatments, better pastoral care surrounding diagnosis and a greater deal of information about the test would influence his opinion in the future.

The review of the application is ongoing and a report is due out in the next few months.

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by | March 15, 2012

Daniel’s Fight for Wheelchair Services – An Update

By Daniel (on twitter @DanielvsNHS or check out his blog)
This is an update to a previous article I wrote for Duchenne Campaigns in October of last year.
In the previous article I detailed my fight with Gloucestershire Wheelchair Services to get a suitable powered wheelchair and the fact that I had finally handed my fight to PALS, quite a lot has happened since then, but unfortunately I still have no new wheelchair and am confined to my bedroom.
First I’ll start with some good news, between the following four charities, The lions club Cheltenham, The Act Foundation, The Joseph Patrick Trust and Equipment for Independent living, I have been promised £3500 towards a new wheelchair, this is very generous especially in todays economic climate and I am greatly appreciative.
I have also managed to find the ideal chair to meet my needs, the chair is an ex-demonstration Frontier X5, at £9000 not the cheapest chair on the market and I doubt getting a brand new one would ever be possible.  The chair has great suspension and large low pressure tires to cope with any bumps without jarring, it reclines practically flat which is essential for my particular medical needs and has a great, highly sensitive, joystick which allows for very small movements to control the chair.
Now back to Wheelchair Services, PALS managed to get them to agree to allowing me to apply for an INNF, at first we thought this would be a good option, but on further investigation it became obvious that we would be turned down should we apply as I would have to prove my needs were ‘exceptional’ which they aren’t, Wheelchair Services should be able to provide a suitable chair for people with DMD.
After hitting that brick wall I was supplied with an advocate from the Muscular Dystrophy Campaign, they have a lot of experience fighting for people in similar situations and also have access to a large law firm should the need arise.
My advocate, David, started contacting Wheelchair Services at the end of October 2011, he has had a similar experience to PALS and myself so far, Wheelchair Services take a long time to reply to any emails, getting them on the phone is nearly impossible and they tend to be extremely stubborn.
David and I quickly decided that a wheelchair voucher would be my best option, I could then top that up with charity funding to get the best chair possible, I had already been turned down for a voucher when I had asked Frances, lead OT of Gloucestershire WCS, as my medical condition may deteriorate in the next five years.  David was hopeful we could challenge this, he spent a long time playing phone tag with Frances and waiting for responses to emails, eventually he came to the conclusion that Frances would not budge or help in any way.
After talking with his colleagues he found the name of someone higher up in Gloucestershire NHS who might be able to help, Rosi Shepherd, it took him some time to get hold of her but she did seem more amenable at first, she contacted Wheelchair Services and came back with the arguments they had already given us.  We countered with a letter from an RGN who has worked with me for several years and the fact that historically there is no evidence to suggest that my needs will change within five years (I had my previous chair for fourteen years), the reply was interesting, they changed tack suggesting I may improve within five years, they want an assessment by another wheelchair service and they would not consider my nurses letter “as it contradicts with our opinion”.  Shortly after this email they said they would like to assess me for a new chair with a different seating system, I have agreed as I am still trying to cooperate with them, I have stipulated that I don’t want Frances involved and that I want to record the meeting, lets see if they are willing to be cooperative too.
I doubt the latest chair offered will be suitable, and even if it is their policy of on-pavement only use and artificially limiting a chairs speed to four miles per hour would put my safety at risk and restrict my independence.  In the end I can’t see us getting anywhere unless we get a law firm involved, this will cause things to drag on even longer, but if I win it will hopefully help others in a similar situation too, I will not give up the fight and maybe, with a lot of luck, I will be able to go outside this Summer.

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by | March 12, 2012

Liberal Democrat Conference and the NHS Bill

By Andy

Last weekend saw the Liberal Democrat Conference take place in Gateshead. The conference came at a difficult time for the Deputy Prime Minister Nick Clegg who has been under a great deal of pressure over the NHS bill from the public and his own party.

Four debate topics were proposed on Saturday, with the so-called ‘Shirley Williams Motion’ being chosen. However, an amendment was introduced which called for the conference to vote on whether to “delete the call for support of the bill in current form”.  After a 45 minute debate, the motion was carried by 314 to 270, but, significantly, with the amendment made.

This somewhat confused approach by the Liberal Democrats has led to them being characterised as neither for nor against the Bill. It further mounts pressure on the Lib Dem leader, with his party belying his wishes to support the Shirley Williams Motion in full and publically stating that they do not agree that the health bill has been significantly improved.

Two hours after this vote Nick Clegg spoke, in his conference speech, of how the NHS bill was better for Liberal Democrat intervention and highlighted the particular work of Shirley Williams. Arguing against those who believe the NHS bill will lead to unnecessary privatisation, he said “Competition will be the servant of health care, not the master, because this is a coalition Government. This is a Bill for patients, not profits…it is a better Bill because of the Liberal Democrats.”

After Nick Clegg’s speech, speculation began over where this left the Liberal Democrats. Charles West, the Liberal Democrat MP for Shrewsbury, held that this vote would empower MPs and peers to reject the Bill completely, while Andrew George MP called for the government to listen to Lib Dem members and for the Bill to be withdrawn. Labour MPs also got involved with Harriet Harman calling for the Deputy Prime-minister to “listen to his members…and drop the Bill” and Andy Burnham MP asked for Liberal Democrats to put aside party politics and work together to protect the NHS. Deputy leader Simon Hughes tried to temper this division by suggesting that ‘the conference reflected the mood of the party and the country…We want to see the final product before we agree to it.”

The Bill shall now head back to the Lords for the third reading and the possibility of further amendments.

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by | March 8, 2012

Where now for the NHS?

By Eilidh

After months of campaigning, thousands of letters written, 171,215 of us, (currently), signing an e-petition, (which despite being well over the threshold of 100,000 signatures hasn’t been granted parliamentary debate), 14 months on, it looks like the Health and Social Care bill bill will be gaining royal assent in the next few weeks.

Where now for the campaign to #savetheNHS ?

There is still a fight under-way. Last night, over 3000 health professionals, medical unions and campaigners gathered for a ‘Save our NHS‘ rally at Central Hall Westminster.

Speakers addressed key concerns around the reforms – prioritising private patients, the risk of health insurance, the strain of current spending cuts and how the current obsession with the market in healthcare would undermine the joined-up care which is so vital, particularly to patients with complex needs.

Jo Brand, once a psychiatric nurse, told of her concerns that under the reforms the poorest and and most vulnerable will have nowhere to go.

Andy Burnham, the shadow health secretary, spoke to the end of the rally, stating that Labour would hold a debate and vote on dropping the bill next Tuesday.

Yet with the parliamentary progress on the bill seemingly now inevitable, we have to ask ourselves as campaigners, what next?

As the guardian article yesterday noted, the passing of the bill doesn’t mean the end of the campaign, we’ll carry on campaigning, working with organisations like 38 Degrees, (order your free posters here), writing to our MPs and sharing our stories about why we need to #savetheNHS and protect this national treasure for future generations.

At the #saveourNHS rally last night

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by | March 8, 2012

NHS Reforms – The Risk Register Debate

By Andy

Risk registers assess the possible risks which policy changes run. They survey the possible outcomes of policy changes. Previously, regional, local, policy-specific and transitional risk registers have been published.

On 22nd February, Labour called for a debate on the refusal to release the risk register for the Health and Social Care bill. On the morning of this debate, senior figures in healthcare signed an open letter to ministers demanding the publishing of this review – “which would enable the public to understand the potential hazards that the health and social care bill presents”. Chris Graham, the UK Information Commissioner, also wrote an article about the need for the release of the register.

The risk register was brought up in Prime Minister’s Questions before the debate, with the Prime Minister pointing out that in Labour’s briefing notes for the debate, it recognised that Andy Burnham, the shadow health secretary, blocked the publication of a ‘strategic risk register’ in 2009. Andy Burnham began the debate on Wednesday afternoon – a debate which the deputy speaker described as the worst-tempered debate he has chaired. Burnham argued that publication of risk registers differ from case to case, and this is very different to the one that he blocked in 2009. He went on to argue that in these ‘extraordinary times… [of] imposing top-down reorganisation of the NHS…the public have a right to know what the risks are’. He went on to accuse Andrew Lansley of hypocrisy, as the health secretary has often advocated an ‘open and transparent NHS’.

Lansley argued that this risk register was ‘high-level’ – and therefore should not be published. Such high-level risk registers offer a ‘snapshot of the potential problems facing the service at any one time…outlining all possible risks…however outlandish and unlikely’. He argued that the publishing of such assessments would corrupt the quality of advice. Indeed, Lansley held that if such high-level registers were published it would precipitate potential problems, rather than mitigate them.

The request, which was for the ‘transition risk register’, was made in Autumn 2010. Charles Skidmore MP has pointed out, would mean that the risk register, if released, would be the one from November 2010 and not the up to date ‘strategic risk register’ from February 2012. This, he argued, would lead to the release of an irrelevant and simplistic document which would only lead to misinformation. Furthermore, under Section 57 of the Freedom of Information act, the Secretary of State can refuse the publication of information if it refers to the formulation of policy.

On the other hand, it was argued that the risk register was a right of the tax-payers that are paying for reforms that they did not vote for. It would allow the public to make a more thorough and informed decision on these reforms. Moreover, risk registers are not merely ‘worst-case’ scenarios; theoretical risks are often given ‘likelihood’ ratings. Therefore, Lansley’s argument that the release would ‘scaremonger’ the public was, itself, an exaggeration. For the supporters of the disclosure of the register, not publishing the register shows that the government has something to hide. That is, either they have not thought through the reforms thoroughly enough, or that the risks are numerous and high – as Frank Dobson MP put it: “I believe the Government will finally conclude it’s foolish of them not to publish this register because everybody assumes they must have something to hide”.

The vote, taken on the 22nd February, ended with the bill being overturned by a majority of 53 and therefore, the risk register will not be released. Andy Burnham, speaking after the vote, held that this was not the end of the matter: “It is clear they are going to try and fight it: they are going to go to the High Court, go all the way, to go beyond the Bill (passing)”. The refusal to publish the bill is now being scrutinised by the information rights tribunal. A decision by this tribunal is due out next week.

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by | March 8, 2012

Welfare Reform Bill Update

By Andy

On the 7th of February I posted an overview of the Welfare Reform Bill. At this point, the Lords had made seven amendments to the Bill. These amendments had been overturned, with the government using parliamentary rules known as ‘financial privilege’ to prevent the Lords reinstating these amendments. The government were then looking to pass the bill in Spring.

On the 14th of February, the House of Lords backed plans to limit the ‘bedroom tax’ on social housing tenants with spare rooms. Peers voted to exempt disabled people, war widows and foster carers who could not find other alternative accommodation from the proposed cuts. These amendments would have been expected to cost around £100m. The bill was then sent back to the Commons.

Lord Strathclyde warned that the Lords should not send amendments back to the commons which would be ruled to affect the Commons’ financial privilege. An attempt to avert ‘parliamentary ping-pong’ was made with amendments dropped following certain assurances by the government – for example, the limiting of cuts to top-up payments made to the parents of disabled children was dropped by Crossbencher Baroness Meacher as the Government pledged to review how the transition to the welfare system made provisions for severely disabled children. Despite all this, the exemption of specific groups of people was proposed.

On the 21st of February, MPs overturned these amendments to limit the ‘bedroom tax’. Work and Pensions Minister Chris Grayling defended these plans saying that spare rooms were ‘a luxury that the social housing sector could not afford’. Andrew Percy MP, rebelled against his government, pointing out that homes are not just public assets, while Frank Field MP called these plans “nasty, mean little measure”.

The House of Lords shall now have another opportunity to scrutinise the Welfare Reform Bill.

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by | March 8, 2012

NHS Reforms Update

By Andy

After the defeat of the publishing of the Health and Social Care transitional risk register, NHS reforms are continuing to cause vast amounts of controversy. In reference to Welfare Reform at PMQs yesterday, Labour MP Dame Joan Ruddock asked David Cameron if he is “proud of his decision to remove disability benefits from a child with cerebral palsy”. The Prime Minister replied with his oft-quoted statement that “we are not cutting benefits for disabled children”. This, as Cathy Newman points out, is something of a half-truth: with some disabled children getting more, others a great deal less. In reference to the Health and Social Care bill certain changes have already been made. Following the Clegg-Williams letter on the NHS, Earl Howe placed safeguards for the amount of private funding for hospitals whilst also limiting the independent regulators (Monitor) powers from full economic regulator to ‘promote competition’ to one that ‘promotes the patients interest’ by removing ‘anti-competitive practices’.

 Monday saw the start of another tempestuous week for the Health and Social Care bill. On Monday the Royal College of Physicians sent out a ballot to all 26,000 members in order to conclusively and formally decide whether to reject the NHS bill. Monday also saw the start of the hearing over the Department of Health’s refusal to publish the risk register. Tuesday saw the bill return to the Lords for another set of debates. Yesterday was the day of the TUC’s ‘Save the NHS’ rally and Friday the Lib Dem Spring conference kicks off with the bill being one of the main issues.

Yesterday saw Unison leader Dave Prentis come out damning the NHS reforms, saying “Introducing competition into the NHS will usher in private companies… Taking the cap off the number of private patients that can be treated by a hospital means that those who can pay will go to the front of the queue. NHS patients will face growing waiting lists … Voters will never forgive, or forget the party that ruins our NHS”; while Len McCluskey, the General Secretary of Unite, said that the NHS was “on the point of privatisation”.  A somewhat confusing diagram has also been doing the rounds on social media all day which seems to depict the formation of the NHS after the reforms. Yesterday afternoon saw the British Medical Association pass a motion of no confidence in the health secretary after a conference of consultants attended by about 200 senior hospital doctors. Over the next few days there will be last-ditch attempts to block the bill before it becomes law – projected to be on the 20th of March.

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by | March 7, 2012

Guest Post – Rare Disease Day

By Diana

Across the UK, there were events to raise awareness and the urgency of providing vital funds for rare diseases. As an alumnus of Royal Holloway, I was delighted to take part in the day’s activities on campus on Wednesday the 29th of February.

I arrived early in the morning to set-up Action Duchenne’s exhibitor stand in the illustrious Founders building. Our banner was ideally placed not only amongst some very worthy causes, but also attracting lots of interest from college, university students, professionals and local parents alike. Later in the afternoon, I gave a talk about living with Duchenne from the viewpoint of our supporters, the focal point being the trailer for John Hastie’s A Life Worth Living Film, which really struck a chord with the audience.

The Bioenterprise section, although separate from the rare disease event itself was really interactive, aimed at the final year students within the School of Biological Sciences who volunteered during the day. There were many inquisitive minds present, quizzing me about the recent advances in genetic medical research and how best to get involved in charity work.

My personal highlight was Helene Raynsford, a fellow former alumni and Paralympics Champion with a rare disease (Ehlers-Danlos Syndrome). Her story was truly inspirational; pursuing your dreams and achieving your potential, no matter what the circumstances.

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by | 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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