On Tuesday 7 February 2017, Action Duchenne hosted a Scottish roundtable at the David Lloyd centre in Edinburgh. It provided an excellent opportunity for Scottish families to meet with leading clinicians, hear from Scotland’s Public Health and Sport Minister, Aileen Campbell and give a greater understanding of the medical research taking place which is helping improve the quality of life for those living with Duchenne.
Our wonderful speakers included Aileen Campbell MSP, Scotland’s Minister for Public Health and Sport, our CEO, Diana Ribeiro, Dr Jarod Wong & Dr Shuko Joseph from the University of Glasgow, Alan McNair from Scotland’s Chief Scientist Office, Sue Hogg & Claire Turnbull from the Children’s Hospice Association Scotland, Sheonad MacFarlane the Chair of Muscular Dystrophy UK (MD UK’s) Scottish Council and our DMD Registry Curator, Angela Stringer. The roundtable was expertly chaired by John Miller, Action Duchenne’s (AD) Scottish Advocate.
To start proceedings John Miller highlighted the significant progress made since 2008 for all those living with Duchenne muscular dystrophy (DMD) in Scotland, made possible by the relationships we have built with the Scottish Government, inclusive of politicians from across the political spectrum. This work started from June 2008 when Action Duchenne’s petition set in our then strategy ‘Make Muscle Wasting history’ received a positive response from the then Public Health and Sports Minister, Shona Robison MSP and the then First Minister Alex Salmond MSP. This was because the Scottish Government wanted to hear how we believed access to medicines and standards of care could be improved in Scotland.
At a meeting on September 17th 2008 with Shona Robison MSP, John Miller raised a number of important issues for the DMD community to improve the quality of life for those living with DMD outlined below.
Matters raised in meeting
- Grants on Housing adaptations
In 2008 they were means tested for families with disabled children. Furthermore, even if you had an ISA the interest was used to reduce the grant.
- Wheelchair Services
The services were in a state of total disarray and it was extremely difficult to obtain a powered wheelchair due to the substantial costs involved.
- 24/7 support for those affected by DMD
John highlighted that in Denmark there is 24/7 support for those living with Duchenne and would it be possible to emulate this in Scotland.
- Centres of Excellence
John discussed the Centres of Excellence at Great Ormond Street in London and the Victoria in Newcastle, where Scottish families were disadvantaged in the context of cost and lack of a general referral system to use the level of consultants available in those institutions.
Summary of improvements
- The Housing Act (Scotland) updated and introduced on April 1st 2009
80% of the total cost for housing adaptations for disabled people would be paid for by the Scottish Local Authority mandatory grant, with the possibility of 100% for the most vulnerable people, with means testing abolished. This ended the postcode lottery for housing adaptation grants in Scotland.
- Wheelchair services
More funding was provided for wheelchair services in Scotland with the Scottish Government pledging £16 million of funding. This was broken down as funds of £2 million in November 2008, £6 million on 1st April 2009 with a further £8 million to follow.
4a Centres of Excellence/ Scottish Muscle Network (SMN)
The Public Health Minister funded the SMN and appointed two lead clinicians, Dr Karen Naismith and the SMN’s Senior Programme Manager, Dr Karyn Robertson and invited John Miller to arrange meetings with the two lead clinicians.
4b The then CEO for AD Nick Catlin arranged for Dr Karen Rafferty who had been seconded to AD from Professor Kate Bushby’s genetics team to work with John Miller at the meetings he arranged with the Scottish Muscle Network (SMN).
4c From these meetings and support and funding by the Scottish Government the S.M.N. has blossomed, ably led by the two lead clinicians. We now have all the necessary support in all the Scottish Cities for those affected by DMD. Although these cannot be described as Centres of Excellence we are moving in the right direction and Scotland is moving towards the 24/7 model of care for those living with DMD that Denmark has.
5. Independent Living Fund
We have seen further improvements in the care for those living with DMD in Scotland, so they can live more independent lives, as in 2016 the Scottish Government announced following the closure of the UK-wide version of the Independent Living Fund, they would protect the £47.2 million a year fund and provide an extra £5 million a year of funding in Scotland.
The roundtable began with a talk from Aileen Campbell MSP whose passion to ensure the Scottish Government supported all those living with DMD in Scotland were clear for all to see. In her speech she praised the work we do as key to the health and social care policies the Scottish Government carries out, due to our knowledge and experience.
She spoke of the need for charities, clinicians and the Government to work collaboratively to increase access to rare disease drugs. This collaborative work is on show in the Tripartite Agreement between AD, MD UK and Scotland’s Chief Scientific Office who provided funds of £75,000 per year for three years to the tripartite agreement.
This partnership led to the award of a clinical academic training fellowship to Dr Shuko Joseph at the University of Glasgow and a three year project to better understand bone deterioration for the 2,500 people living with Duchenne Muscular Dystrophy (DMD). Expert research has been carried out on bone health due to the links Dr Shuko Joseph built with the SMN’S clinical lead Mariana di Marco, inclusive of the links Action Duchenne’s Scottish advocate, John Miller had built over a number of years.
Aileen spoke briefly about the Scottish Government’s work to help those in Scotland with rare diseases, including DMD, as outlined in its report: ‘It’s Not Rare to Have a Rare Disease: The Scottish Implementation Plan’.
Aileen also highlighted that the Scottish Government has successfully increased access to medicines for those living with DMD and significantly increased funding for treatments and access to drugs for those living with rare diseases through the New Medicines Fund. This was set up in 2014 replacing the Rare Conditions Medicine Fund. It provided funds of £20 million in 2013/14, £40 million in 2014/15 and £80 million in 2015/16.
Following her talk, John Miller briefly spoke about the importance of effectively lobbying MSPs and the Scottish Government, which in his role as our Scottish Advocate he has been at the heart of.
Jim Eadie MSP raised a motion for a dedicated debate peculiar to DMD John Miller Action Duchenne’s Scottish Advocate lobbied a sufficient number of MSPs to support the motion to allow a debate to take place on 20 November 2012. 12 MSPs spoke on behalf of the motion in the debate. The transcript of the debate can be found here and a live recording of the debate can be found below.
After this in praise of the lobbying work AD was doing, on March 3rd 2014 a motion was put forward by Jim Eadie MSP and signed by over 40 MSPs across the political spectrum praising the work of AD and John Miller in his role as our Scottish Advocate. A link to this can be found here.
In October 2014 due to the hard work carried out by Robert Watson and John Miller on improving respite care for young adults living with DMD the Labour MSP, Jackie Bailie led a debate in the Scottish Parliament entitled ‘Absence of suitable hospice and respite facilities for young adults’. 12 MSPs from across the political spectrum contributed to the debate made possible by the work we had carried out over a number of years building up relationships with Scottish MSPs. The debate raised the importance of providing age appropriate hospice facilities for young adults affected by DMD, giving this cause the prominence it deserves and it is something we continue to speak out on. The transcript of the debate can be found here and the video of the debate can be opened by clicking the below image. If you are struggling to open the video please download Adobe Flashplayer, the link to which can be found here.
John also touched on the Clinical Academic Fellowship, which AD CEO and then Head of Research Diana Ribeiro and himself played a key part in setting up, with the fellowship aimed at increasing research capacity and clinical expertise for Duchenne Muscular Dystrophy in Scotland using the new MRI scanner at the Imaging Centre of Excellence scanning at the Glasgow Queen Elizabeth University Hospital. This scanner which is the first of its kind in the UK will be used to advance critical clinical research. Further details can be found here.
Those attending were then provided an expert update from our CEO, Diana Ribeiro, on clinical trials and the significant expansion of clinical trial capacity in the UK from 2005 to the present day, leading to significant progress through cutting edge science to help improve the quality of life for those living with DMD. One stand out figure was that in 2005 there was only 1 clinical trial in the UK, whilst in 2016 this number was 25, with many more clinical trials opening in 2017. Those already opening for recruitment include Brain DMD.; a clinical trial into myostatin-inhibitors by Pfizer; Ezutromid looking into Utrophin upregulation by Summit and Rimeporide by EspeRare focused on heart function for those living with DMD.
After this, attendees were given the chance to hear from Dr Jarod Wong and Dr Shuko Joseph from the University of Glasgow who are beneficiaries of the Clinical Academic Training Fellowship. They spoke of their work looking in to the bone health of those living with D.M.D. between the ages of 5-16. Further details about the study can be found here. They both made clear that the main reason for their research was to build future clinical trial capacity, especially when it comes to slowing down the progress of muscle weakness for those living with DMD.
One area they focused on was that those with DMD are much more susceptible to bone fractures due to a number of factors, which the study would look at. The research so far has led to a greater understanding of secondary osteoporosis and its therapy in DMD and greater knowledge of bone weakness for those on the North Star Database. The funding from the tripartite agreement has led to the availability of a range of innovative imaging techniques and biochemical markers which has enabled changes in bone health over time to be properly examined.
In response to a number of questions from the audience they said that a key part of the evaluation they are carrying out relies on the views of those living with DMD, their families and carers, so they can play a key role in improving bone health and reducing fractures.
After this extremely informative presentation we heard from Alan McNair, the Senior Research Manager for Scotland’s Chief Scientific Office (C.S.O.). Like those preceding him Alan sung the praises of the tripartite agreement which has led to further vital research into D.M.D.. He was also keen to state that rare diseases are not rare.
He went on to discuss how the CSO support collaboration between itself and different charities, including Action Duchenne, to improve research and levels of care when it comes to rare diseases, as part of the CSO’s Health and Social Care Research Strategy. He made it clear that the CSO aims to collaborate with patients’ groups, as the CSO wants the patient to be at the heart of all the work they do.
We then heard from Sue Hogg, the Director for Children and Families at the Children’s Hospice Association Scotland (CHAS). She provided us with a timely update on the work of CHAS with a focus on palliative care based on their report on the subject, which can be found here.
Sue highlighted research CHAS had carried out in the 15,404 children and young people in Scotland who have life limiting conditions. One shocking figure the research uncovered was that 25-26% of those with such conditions in Scotland come from the most deprived backgrounds and therefore palliative care in Scotland needs to be developed in a way that access to services for children and young adults from deprived backgrounds is prioritised. This is a goal we support.
There were ten key recommendations for palliative care which came out of the report and Sue focused her presentation on the need for age specific care for those in between the ages of 16-25, which CHAS’s Transition Manager Claire Turnbull then spoke in some more detail on. This is something that John Miller our Scottish Advocate picked up on in a question, where he talked about the lack of support whether it’s in employment or in the health service for those living with D.M.D. who are of that age. This is an area AD is concerned about and will be campaigning on.
We ended the roundtable with a reminder that behind all the research being carried out there are human stories which should not be forgotten, which is especially important to us as we see ourselves as representing the DMD Community. This was made possible based on the personal stories of rare disease diagnosis and siblings’ experience provided by Sheonad MacFarlane the Chair of MD UK’s Scottish Council and our very own Angela Stringer.
Sheonad MacFarlane spoke passionately about her experience as the parent of two girls, the youngest of whom Eilidh has Spinal Muscular Atrophy type 2 meaning she has been in a wheelchair since she was 18 months old. She spoke movingly of how when she was first given the diagnosis, there was a moment when she grieved for the life her daughter would not have, rather than the life she would lead. Sheonad then went on to talk about the importance of retaining a positive attitude.
She also highlighted that it is often the siblings who suffer a lot and yet too often this suffering is ignored. Due to Eilidh’s condition she is restricted in the time she can spend with her eldest daughter and siblings often end up becoming young carers even though they may not realise this.
Angela Stringer then provided a deeply personal insight into her son Jonathan who recently died at the age of 28. She told us that when she first heard he had DMD. it was like her world had come crashing down, but she made herself go out and see friends and family. She learned who her real friends were as they went out of the way to ensure her son Jonathan was able to see as many of his friends as possible. She was also keen to stress how Jonathan had lived a fulfilling life for 28 years and showed that those living with DMD can live a life full of joy.
The roundtable ended with a range of questions from the audience which included the need to ensure DMD is diagnosed earlier and that it would be helpful to have one place which contains all the information they require for looking after their sons and ensuring they have access to the best treatments available.
Gary Fegan, whose son Cormac has access to Translarna due to funding provided by NHS Lothian said:
“The regional round table isn’t just a Duchenne muscular dystrophy information session, it provides a valuable opportunity to meet with other families and hear from those who indirectly impact how Duchenne is managed. From the children’s charities or government ministers it’s an invaluable afternoon. Being able to interact and socialise with the Action Duchenne team is a real bonus as well as being enjoyable too.”
Everyone at Action Duchenne would like to thank all those that participated in the day, particularly our speakers.
The presentations from all the speakers from the Scottish roundtable meeting of 7 February 2017 can be found here.
Glossary of terms
Action Duchenne – AD
Muscular Dystrophy UK – MD UK
Duchenne muscular dystrophy – DMD
SMN – Scottish Muscle Network
CSO – Chief Scientific Office
CHAS – Children’s Hospice Association Scotland
ScOT-DMD research study update
