Muscular Dystrophy UK – The NEN – North Edinburgh News

Charity to host free Scottish Disability Sports Event for children living with muscle wasting conditions

Muscular Dystrophy UK and Scottish Disability Sport join forces to host a free Scottish sporting event on Saturday 24 August 2024.

The leading charity for more than 110,000 children and adults in the UK living with one of over 60 muscle wasting and weakening conditions is calling on people in Scotland to join the free session.

The event will give children aged under 18 living with muscle wasting and weakening conditions the opportunity to try different sporting activities, such as curling, powerchair football, boccia and swimming.

Children will be fully supported with adaptations, so they can enjoy playing sports, learning new skills, and meeting other children living with a muscle wasting and weakening condition.

There will be an opportunity for people to speak with Scottish Boccia, Powerchair Football Players and representative from Scottish Swimming on the day. Special thanks to Scottish Curling and SPFA for providing equipment.

Paralympian Stephen McGuire, 40, from Hamilton, Glasgow, lives with merosin-deficient congenital muscular dystrophy. From the age of 14 Stephen has used a power wheelchair and has been part of the GB squad for 20 years. He is due to compete in his fourth Paralympian games in Paris (28 Aug – 8 Sept) following his appearances at London, Rio and Tokyo.

He said: “It has always been a dream of mine to compete at the Paralympics, so to be able to compete at my fourth one is incredible. I love competing in sport – sport is my passion. I’ve been hooked ever since, as it’s given me a purpose.

“The sport is really inclusive, you can play Boccia from school level to regional or national level, so I would encourage everyone to give it a try.

“That’s why the Scottish Disability Sport Event is important to help children explore different sports to build up their confidence and abilities. I had the opportunity to speak and demonstrate at some of the events. It’s joyous to see the younger generation getting involved and potentially witness upcoming future Paralympians.”

Jacqueline Munro, Head of Regional Support, Outreach, and Information said: “We’re delighted to have partnered with Scottish Disability Sport once again to offer children aged under 18 the opportunity to try different sporting activities.

“It’s a great opportunity for families to meet others in the muscle wasting and weakening community in Scotland to engage in a fun filled day and find out how Muscular Dystrophy UK can offer support.”

Scottish Disability Sport is the Scottish governing and co-coordinating body of all sports for people of all ages and abilities with a physical, sensory or learning disability.

Joshua Thomson, Events Manager for Scottish Disability Sport said: “Scottish Disability Sport is delighted to be working in partnership with Muscular Dystrophy UK to provide a unique opportunity for children and young people living with muscle wasting conditions.

“All of the sports are being delivered by coaches from Scottish Governing Bodies with expertise and knowledge in working with people with muscular dystrophy and similar conditions.”

The event will take place between 12.45pm– 4.30pm at Grangemouth Sports Complex, Abbots Road, Grangemouth, Falkirk, FK3 8JB. Accessible toilets and changing areas will be available including a Changing Places toilet.

Find out more and register your interest musculardystrophyuk.org/Scottish-disability-sports-event

Call for more fully accessible toilets

Over a quarter of a million people in the UK in need of such facilities
More than 2,400 Changing Places toilets currently available in the UK including 289 across Scotland
Changing Places Awareness Day highlights the need for more fully accessible toilets

Friday (19 July) was Changing Places Awareness Day – the annual event highlights the importance of fully-accessible toilets needed by more than a quarter of a million people in the UK.

Muscular Dystrophy UK and PAMIS, co-chairs for the Changing Places Consortium, are calling for more Changing Places toilets to be made available on the awareness day.

Muscular Dystrophy UK supports more than 110,000 children and adults in the UK living with one of over 60 muscle wasting and weakening conditions.

The charity campaigns for people’s rights, better understanding, accessibility, and access to treatments, funds ground breaking research and supports people to live well now.

PAMIS, promoting a more inclusive society, is the only charity in Scotland that solely supports children, young people and adults with profound learning and multiple disabilities (PMLD) and their families to lead healthy, valued and included lives doing the things they want to do within their community, offering a range of projects and programmes.

Together they campaign for Changing Places toilets to be installed in all big public spaces, so that people can access their community.

A Changing Places toilet is different to a standard accessible toilet. With extra space (12 sqm) to help accommodate larger wheelchairs and the presence of carers to assist and support the users. It has specialist equipment such as an adult size changing bench, ceiling track and hoist, peninsular toilet, and height adjustable sink.

People with profound and multiple learning disabilities, hidden or physical disabilities such as spinal injuries, muscular dystrophy, and multiple sclerosis, often need extra equipment and space to allow them to use the toilets safely and comfortably.

Without enough Changing Places toilets, people with hidden and physical disabilities face the option of not leaving their homes, limiting fluid intake on days out, or having to be changed on dirty toilet floors.

Currently, there are more than 2,400 Changing Places facilities that have been installed and the Changing Places Consortium works with a range of companies, providers venues and government departments.

Changing Places Awareness Day is not only an opportunity to call for more toilets but a day to mark the official launch of the campaign, started back in July 2006. Enabling a celebration of all the achievements to date and thank the dedicated campaigners, who fight for change.

A bathroom with toilets and sinksDescription automatically generated

Rob Burley, Director of Care, Campaign and Support at Muscular Dystrophy UK said: “For some of the people we support, standard accessible toilets can’t meet their needs, which is why we are proud to be the co-chair of the Changing Places Consortium.

“A person living with a muscle wasting or weakening condition might be in a large powered wheelchair and so may need extra space to manoeuvre around the toilet. They may also need assistance from a family member or a carer and require some of the specialist equipment that is provided in a Changing Places toilet, such as a ceiling hoist and height adjustable sink.

“We hear from a lot of people saying that without a Changing Places toilet they have had to risk their health and safety and that their dignity has been impacted by having to be changed on a toilet floor, rather than having access to hoists and adult changing benches.

“Currently there are over 2,400 registered Changing Places toilets but there is a need for more. We’re calling to have them in all appropriate venues. Legislation calls for them to be mandatory in new buildings over a certain capacity, but given the difference these facilities make, we encourage all venues to install a Changing Places toilet, regardless of size, as it will make a huge difference.”

Scottish charity PAMIS has been campaigning for more Changing Places toilets for over twenty years since the majority of the families the organisation supports cannot use accessible toilets and require the additional space and equipment provided by a Changing Places toilet.

Fiona Souter, Inclusive Communities Director explains: “People with profound learning and multiple disabilities are isolated in their own communities due to the lack of appropriate toilets and this is fundamentally a human rights issue where we frequently hear from families who cannot access healthcare, education or enjoy days out with family and friends because there are no Changing Places toilets nearby.

“While there have been major steps forwards in Scotland most notably around changes to building standards and planning legislation making it mandatory to include a Changing Places toilet in certain sized new public buildings there are still huge geographical gaps in provision.

“We want Scotland to be a truly accessible and inclusive country to visit as well as to live and that is why Changing Places Awareness Day is so important – the more people are aware of these life changing facilities the better.”

Kerry Thompson, from Milton Keynes, was diagnosed with a form of muscular dystrophy (FHL1) and regularly uses Changing Places toilets. She explains why they are so important to her day-to-day life: “Taking a simple trip out can be a military operation. I have a check list of things to take, especially if it’s more than a few hours.

“The biggest problem I face when going anywhere is using a disabled toilet. I find some are simply too small to fit me, my wheelchair in, and it can sometimes feel very claustrophobic, manoeuvring can also be tricky or near impossible.

“My only option is sometimes having to wait until I get home. However, I suffer with Irritable Bowel Syndrome (IBS), so holding it can prove really challenging.

“When I found out about the Changing Places campaign, I wanted to get involved and help spread the word on how important these facilities are to so many people, like me, and their families and carers. It makes such a huge difference.”

In a reflection of the importance of Changing Places toilets, and the campaign, Changing Places has recently been shortlisted for Third Sector’s Big Impact award, which celebrates a project that has had a substantial impact on national life.

Charity calls for better understanding of neuromuscular conditions to speed up referral and improve vital support

Muscular Dystrophy UK voices concerns from the muscle wasting and weakening community in Scotland.
Study reveals possible signs of rare and progressive conditions are often missed and not investigated.
Speedy referral is essential due to complex diagnosis process and the urgent need to access vital healthcare and treatments as quickly as possible.

A recent study by Muscular Dystrophy UK reveals that people living with a muscle wasting or weakening condition are often misunderstood by healthcare professionals and are not referred at the earliest opportunity to specialist services.

The leading charity for more than 110,000 children and adults in the UK living with one of over 60 muscle wasting and weakening conditions, carried out a survey revealing key insights from the muscle wasting and weakening community.

Just under half of respondents (47%) faced being misdiagnosed at some point, with it taking four or more meetings with healthcare professionals for the majority (55%) of respondents to get a diagnosis. A significant majority of respondents (69%) waited in excess of a year to receive a diagnosis.

The findings highlight the need to improve knowledge and understanding of neuromuscular conditions to ensure people are referred, as early as possible to a specialist neuromuscular team, to receive the right diagnosis and start on an appropriate care pathway to get the support and any available treatment required.

Muscle wasting and weakening conditions are progressive which means they will worsen over time and lead to an increasing level of disability. Care and treatments available will slow progression but there is currently no cure.

The symptoms of muscular dystrophy, and the age at which onset occurs, will be different in each person.

Common symptoms could include muscle stiffness or pain, changes in mobility, such as difficulty walking, difficulty in lifting things and increased number of falls. Some muscle wasting and weakening conditions can affect the heart or the muscles used for breathing and in some severe cases, the condition may have life-threatening complications, and shortened life expectancy.

84% of respondents to the survey highlighted the need to increase understanding and awareness of muscle wasting and weakening conditions among non-specialist neuromuscular healthcare professionals as a key priority. With 56% of respondents highlighting that access to healthcare should be a further area of focus.

Respondents shared some of their diagnosis journey highlighting: “I was 14 when I knew something was wrong.

“At age 35 I was diagnosed. I was told I was lying and making things up.”

Another respondent said: “My first reported symptoms to my GP I was aged 35, then onwards from that, on a regular basis until eventual diagnosis at 65.

“I had in-patient assessments over those years, and no-one thought to look for Facioscapulohumeral muscular dystrophy (FSHD) even though my sister has it and I always disclosed this in my medical history.”

The findings show a lack of understanding of muscle wasting and weakening conditions within non-specialist neuromuscular healthcare professionals, either at the initial stages of a diagnosis or at different touch points throughout the management of the condition.

Muscular Dystrophy UK works with the NHS and the muscle wasting and weakening community to broaden knowledge and understanding of the different conditions and improve access to treatments.

The charity is calling for improvements to be made, so people get a faster diagnosis and are better equipped to access appropriate healthcare sooner.

Catherine Woodhead, Chief Executive of Muscular Dystrophy UK said: “When you are living with a progressive condition that can affect vital muscles such as the heart and lungs, it is essential that you get a diagnosis quickly.

“We know that neuromuscular conditions cover an incredibly wide range of rare and progressive conditions. The diagnosis journey is complex and it can take multiple appointments. It’s therefore crucial that we improve the understanding and knowledge of non-specialist neuromuscular healthcare professionals to ensure the referral process is quick and efficient to reduce the number of people being misdiagnosed.

People must be able to access the right support, management – and where available, treatment. Allowing people to remain independent, doing the things they enjoy for longer and more easily.”

A person holding a guitarDescription automatically generated

David Hick was diagnosed with Becker muscular dystrophy in July 2023. Photo credit: Muscular Dystrophy UK

David Hick, 35, a musician who lives in Glasgow, was diagnosed in July 2023 with Becker muscular dystrophy after years of not knowing. Despite having symptoms of fatigue and muscle aches in his teenage years he was told not to worry.

His symptoms progressed, following Covid, and the realisation came when he wasn’t able to continue with his motor trade job, that he had been doing for two decades. He got professional help and was diagnosed. A month after diagnosis, David joined the North Star Programme and is part of a clinical drug trial. David is now looking to move to closer to a specialist neuromuscular centre in Newcastle to ensure he can receive the best possible care.

He said: “Looking back it was apparent that something was wrong, but it was never properly investigated. I was told you’re a fit and healthy person. You’ve got nothing wrong with you. You’re just tall and skinny.

“It affected my mental health when I was in my early twenties, as I questioned why I couldn’t do certain things. Difficulties would come up in everyday life, but I just brushed it off.

“We were renovating our house and I lifted something heavy. As a result, I pulled several muscles, so went to a physio. This was the start of the diagnosis journey. I ended up being diagnosed with a rare and progressive condition. It was like a grenade going off – I’d never heard of muscular dystrophy before.”

Muscular Dystrophy UK provides a range of resources and awareness raising opportunities for non-specialist neuromuscular healthcare professionals, including an e-learning resource for General Practitioners, events, webinars and conferences and connections to local specialist services through its Regional Neuromuscular Networks.

Healthcare professionals who wish to access this support can email:

campaigns@musculardystrophyuk.org

For more information about Muscular Dystrophy UK visit musculardystrophyuk.org

or call our free helpline on 0800 652 6352 (open Mon – Thu 10am – 2pm).

Call for people living with muscle wasting and weakening conditions to join free charity event

Charity invites people across Scotland living with muscle wasting and weakening conditions to join the free in-person event.
Muscular Dystrophy UK is hosting the Scottish conference in Stirling.
Hear from the charity and experts within the neuromuscular community on how to live well.

Muscular Dystrophy UK is calling on people living with a muscle wasting or weakening condition, their families and carers to join a free in-person event open to everyone across Scotland and beyond.

The Muscular Dystrophy UK’s Scottish conference, taking place on Saturday 23 March 2024, is organised by the leading charity for more than 110,000 children and adults in the UK living with one of over 60 muscle wasting and weakening conditions.

Attendees will hear from the charity about advice and support services on offer and from experts on topics including emotional and mental wellbeing, physiotherapy, occupational therapy, education, self-directed support and from real-life experiences.

Jacqueline Munro, Head of Regional Support, Outreach, and Information at Muscular Dystrophy UK said: “We’re delighted to be able to host the Muscular Dystrophy UK’s Scottish Conference and we look forward to welcoming people from across Scotland.

“It will be a great opportunity to gain useful insights and connect with other people in the muscle wasting and weakening community, to share stories, experiences, tips and advice. Secure your place by signing up now.”

The event will run 9.30am – 5.00pm at Forth Valley College, Stirling Campus, Stirling, FK8 1SE.

Spaces are limited, so sign up today: musculardystrophyuk.org/ScottishConference

Lunch is included and the venue has a Changing Places toilet facility on site.

The charity will be hosting information stands from other organisations including Scottish Disability Sports, Housing Options Scotland and SDS Forth Valley.

The information day is part of a series of events happening across the UK. Upcoming events will be happening in Cardiff, Wales, on Thursday 18 April 2024, with previous events taken place in England and Northern Ireland.

The charity also hosts a network of local groups, known as Muscle Groups, who meet regularly across the UK in Scotland, England, Wales and Northern Ireland.

Contact Muscular Dystrophy UK with any information days enquiries on infoday@musculardystrophyuk.org

For more information about Muscular Dystrophy UK visit: musculardystrophyuk.org

or call our free helpline on 0800 652 6352 (open Mon – Thu 10am – 2pm).

Music Producer doesn’t miss a beat for Muscular Dystrophy UK

Scottish music producer is calling on people across Scotland living with muscle wasting and weakening conditions to join the free in-person event.
Sanjeev will share his ‘real-life’ experience of living with muscular dystrophy and why he’s supporting Muscular Dystrophy UK.
Join Sanjeev and the charity at the Scottish conference in Stirling on Saturday 23 March 2024.

Sanjeev Mann, a Scottish music producer, promotor and activist is calling on the muscle wasting and weakening community to join him at an upcoming charity event.

Sanjeev, aka Supermann on da beat, 27, was diagnosed with Duchenne muscular dystrophy in 2003, aged six. Sanjeev is encouraging other people living with a muscle wasting or weakening condition, their families and carers to join a free in-person event open to everyone across Scotland and beyond.

The Muscular Dystrophy UK Scottish Conference, taking place on Saturday 23 March 2024, is organised by the leading charity for more than 110,000 children and adults in the UK living with one of over 60 muscle wasting and weakening conditions.

Having worked with artists from all over the world, Sanjeev spreads awareness about making the music scene more accessible, and how others with disabilities can follow their creative passions.

Sanjeev, born in Glasgow but now lives in Ayr, said: “Living with Duchenne muscular dystrophy has its ups and downs, but for me it has definitely had more ups. I’m glad I was given this path.

“I can’t imagine my life without my best friends who I’ve met because I have Duchenne. And I probably wouldn’t have started making music if I hadn’t been shielding during the pandemic. I’m proud to be disabled and a disabled artist who shares my music with the world.”

A person in a wheelchair with a breathing tubeDescription automatically generated

Sanjeev Mann calling on people across Scotland living with muscle wasting and weakening conditions to join Muscular Dystrophy UK Scottish Conference on 23 March 2024.

Sanjeev who is looking forward to speaking at the Muscular Dystrophy UK Scottish Conference about how music can help our mental wellbeing continued: “I would like my speech to hopefully give new individuals with muscular dystrophy and their families hope for the future. We can be happy and live our best life. I want people to see that having Duchenne doesn’t mean you can’t have dreams. Anything is possible, and if there’s something you really want to do, go for it. You can always find a way.”

“My biggest inspiration to be a prominent figure in the music scene, is the hope that others with Duchenne will see me and think I could do that too. There is still a huge unconscious bias towards us that means people have low expectations of disabled people. And that can mean we end up having low expectations of ourselves. But I’m challenging that, and I hope others will join me to push change.”

A flyer with text and imagesDescription automatically generated

Photo credit @ Muscular Dystrophy UK

The event will run 9.30am – 5.00pm at Forth Valley College, Stirling Campus, Stirling, FK8 1SE. Spaces are limited, so sign up today:

musculardystrophyuk.org/ScottishConference.

Lunch is included and the venue has a Changing Places toilet facility on site.

The charity also hosts a network of local groups, known as Muscle Groups, who meet regularly across the UK in Scotland, England, Wales and Northern Ireland.

Learn more about Sanjeev’s inspirational story musculardystrophyuk.org/Sanjeevor contact Muscular Dystrophy UK with any information days enquiries on infoday@musculardystrophyuk.org

For more information about Muscular Dystrophy UK visit musculardystrophyuk.org

or call our free helpline on 0800 652 6352 (open Mon – Thu 10am – 2pm).

Getting into the Spirit of Christmas

A night of festive cheer aims to raise funds for Muscular Dystrophy UK
Call for local community to join the festivities organised by Stagecoach Performing Arts
Helping to support groundbreaking research and life changing support

People in Glasgow and surrounding areas are invited to the Spirit of Christmas annual concert, an evening of uplifting performances, full of festive cheer, on Friday 1 and Saturday 2 December.

The Spirit of Christmas annual concert will take place at Broom Parish Church, Newton Mearns, hosted by Stagecoach Performing Arts. This year will be full of festive songs brought to you by the students of Stagecoach Glasgow.

Gordon Smith, ex-professional footballer and Muscular Dystrophy UK’s ambassador, will be addressing the audience on the Saturday evening to sing with the children.

Jodie Whitham, Muscular Dystrophy UK’s Regional Development Manager for Scotland and Northern Ireland said: “The Spirit of Christmas always feels like the start of the festive season.

“What a wonderful way to get into the Christmas spirit, with a night of uplifting music, in such beautiful surroundings.

“It’s truly joyful, with so many people giving their time to help us raise awareness and vital funds for people living with muscle wasting and weakening conditions. Make sure you don’t miss out on these magical nights!”

Tickets will be available to purchase on the door on each of the evenings.

Adult: £10
Child or concession £5
Family (two adults and two children) £25

For more information on Muscular Dystrophy UK visit musculardystrophyuk.org or call the free helpline on 0800 652 6352 (open Mon – Thurs 10am – 2pm).

Grab your Kilt and sign up to Kiltwalk!

Muscular Dystrophy UK (MDUK) is calling for everyone in and around Edinburgh to take part in Kiltwalk on 17 September 2023 to support those in Scotland who have a muscle-wasting condition as well as family, friends and colleagues who might be affected.

The sooner people are able to sign up, the sooner you can start fundraising! Rare Disease Day is Tuesday 28^th February, and is a day to raise awareness of conditions like Muscular Dystrophy where there are 110,000 children and adults affected which means they life is limited. We’d love if you did something special this Rare Disease Day and register to walk for muscles.

To register for Kiltwalk and get your FREE place please go to:

https://musculardystrophyuk.org/get-involved/events/edinburgh-kiltwalk-2023.

Jodie Whitham, MDUK’s Regional Development Manager said: “We rely on the generosity of our supporters, local businesses, and communities every year. Last year we raised more than £6000 from Kiltwalk and hope 2023 can be even bigger.”

For further information and to request your free t-shirt and fundraising pack contact Jodie on j.whitham@musculardustrophyuk or call on 07771 374839.

Edinburgh woman with muscle-wasting condition to host fundraiser at the Scottish National Portrait Gallery

Art enthusiast Alexandra Gardyne is the subject of exceptional pieces by well-known Scottish artist Damian Callan, which will be displayed at the fundraiser at the Scottish National Portrait Gallery
Alexandra lives with Facioscapulohumeral muscular dystrophy, a condition that gradually weakens the muscles, and wants to change the perceptions that others may have when they see someone with muscular dystrophy
Visitors can expect to view and purchase unique pieces reflecting many artists’ perception of muscular dystrophy and a full range of the artists’ own portfolio of work
Artists include: Damian Callan, Jennifer Illustrated Lab, Ritchie Collins, Eleanor Cunningham, David Schofield, Lucy Campbell. Photographer Maxine Ragni
Alexandra is hosting the fundraiser to raise money for Muscular Dystrophy UK

Art enthusiast Alexandra Gardyne, who lives with Facioscapulohumeral muscular dystrophy, is the subject of exceptional work by Damian Callan, one of Scotland’s well-known artists.

The work will be shown as part of a one-off exhibition on the evening of 21 May she has organised at the Scottish Portrait Gallery to fundraise for Muscular Dystrophy UK.

The evening will begin at the Scottish National Portrait Gallery’s Grand Hall. Drinks will be available from the Heritage Portfolio Company while visitors can meet Alexandra and attending artists.

Damian, a figurative artist whose work reflects that of Degas and Renoir, said he found an extraordinary determination in the way Alexandra deals with the challenges of her condition.

“For many years I have worked on depicting the characteristic movements of sports figures and dancers. Alexandra asked if I would consider working with her with a view to capturing the particular ways in which she moves and thus possibly offering an insight into the experience of living with muscular dystrophy.

“Through a process of drawing her in the studio and photographing her walking in the Botanic Gardens, I began with a series of charcoal and pastel studies and developed these into paintings. I have attempted to produce positive and uplifting images that recognise an extraordinary dignity and determination in the way Alexandra deals with the challenges of this condition.”

Register to attend the event: https://www.eventbrite.co.uk/e/perceptions-life-with-muscular-dystrophy-tickets-221911462157

Get to know Alexandra and view some of the artwork: Instagram.com/ali.artspoken

Alexandra – a 35-year-old mum from Edinburgh – said: “This is a fantastic opportunity to raise awareness and educate about muscular dystrophy through art. I am delighted that so many artists have jumped on board.

“There will be a good range of pieces, with and without attachment to muscular dystrophy, so the mix is eclectic enough to suit people’s style and pockets.

“I have always found art stimulating and exciting, and enjoyed galleries and local shows. I used to do a lot of arts and environmental workshops in my 20s. I love creating space for other people’s creativity to flourish and be appreciated.”

Alexandra was diagnosed with Facioscapulohumeral muscular dystrophy when she was 22. “I was symptomatic since toddlerhood but only diagnosed in my twenties when I could no longer run, kept tripping on the stairs and always feeling exhausted.

“I find it very hard to live with my condition but I am passionate about connecting with people and making things happen. I am trying to change the perceptions that others may have when they see someone with muscular dystrophy.”

Ritchie said: “When I met Alexandra and she told me about the Muscular Dystrophy UK charity, I thought it was a great idea to host an evening of art in the magical setting of the National Portrait Gallery.

“It’s an honour to be able to draw awareness and raise funds for such a great charity through my work.”

Julia Smith, senior manager, regional development at Muscular Dystrophy UK said: “Alexandra has put a lot of time and effort into this fundraiser and we are so grateful.

“We look forward to seeing photos from the event and expect it will be a fun and relaxed evening. Any funds raised will go towards Alexandra’s family fund to to raise essential funds for research into Facioscapulohumeral muscular dystrophy.”

Alexandra added: “Muscular Dystrophy UK is a charity with a great level of experience and determination in their mission and the staff, and that always comes across. They have created many opportunities for people with the conditions.”

The venue is fully wheelchair accessible.

Charities urge SMC to approve treatment for life-limiting condition

A group of charities is urging for the approval of a drug that can treat an underlying genetic cause of a life-limiting muscle-wasting condition.

Duchenne muscular dystrophy (DMD) primarily affects boys and causes muscles to weaken and waste over time, with most of those affected needing to use a wheelchair by the age of 12. The life-limiting condition also causes other severe health problems to the heart and breathing muscles.

The drug Translarna, however, can help treat cases of a version of Duchenne that is caused by nonsense mutations.

Today, Muscular Dystrophy UK, Action Duchenne, Duchenne Family Support Group and Duchenne UK are appearing before the Scottish Medicines Consortium (SMC) to represent patients who could benefit from Translarna and to seek its approval for use on the NHS in Scotland.

In its joint submission to the SMC ahead of today’s meeting, the charities outlined evidence from a survey conducted earlier this year.

They provided evidence that highlights clear improvements to quality of life reported by those receiving the drug. Significantly, many families of children receiving Translarna say they retained the ability to walk for longer than expected, and that this gave their child greater independence to complete daily tasks and take part in activities with friends.

Families also reported huge behaviour improvements at school and home, as well as positive mental health outcomes.

If SMC approves the submission, Translarna would be the first treatment routinely available through the NHS in Scotland that addresses an underlying genetic cause of Duchenne muscular dystrophy.

One parent who took part in the survey, and whose thoughts were included as evidence in the submission, explained: “For our son knowing that he has a medication to help his muscles is a massive boost to him.

“We believe that every time we receive our Translarna it lifts his spirits in this fight. We never for a moment take for granted how lucky we are to be receiving this drug and feel it’s something in our corner as we face this battle head on.”

If approved, Translarna would be given in addition to the current standard treatments on the NHS in Scotland.

A spokesperson for the four charities said: “Every day is a race against time to slow down Duchenne muscular dystrophy, a progressive condition that robs children of their ability to walk and their independence.

“Muscular Dystrophy UK, Action Duchenne, Duchenne Family Support Group and Duchenne UK are pleased to have represented the voices of patients in our joint submission to the SMC.

“We believe our submission highlights both the physical and mental health benefits of Translarna, a drug that has the potential to improve lives for so many families living with Duchenne. We very much look forward to hearing the SMC committee’s thoughts on our submission.”