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We’re calling for people living with a muscle wasting and weakening condition to get a timely diagnosis, and the earliest access to the right treatment, care and support

Early access to treatment, care and support is essential for people living with a muscle wasting and weakening condition. Being seen by the right specialists as soon as possible is key to ensuring better health outcomes for our community. 

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Being diagnosed with a muscle wasting and weakening condition often means adjusting to a new and unexpected reality. Living with a new diagnosis can be complicated to navigate, particularly as families, friends and extended networks may never have heard of the condition or understand the consequences.  

But the diagnosis process in rare diseases, like muscle wasting and weakening conditions, and the pathway to receiving a timely, accurate diagnosis, can too often be lengthy and distressing for individuals and families.  

Sarah, 41, had to wait over a decade to receive a confirmed diagnosis of limb girdle muscular dystrophy.  

“The biopsy came back inconclusive as I didn’t have a known strain of LGMD back in 1999, but the doctor said I probably had the condition….  More than a decade after my initial tests, I got a letter confirming I had LGMD type 2A.  

“I’d been so focused on staying strong for my family when I got ‘diagnosed’ at 16. Now I had time to acknowledge what this meant for me. I’d never really accepted my disability, but I wasn’t able to ignore it any longer. I went into a deep depression and had to have six months off work. Through counselling and finding a partner, I slowly built myself back up, but it was hard to work through eleven years of repressed grief.” 

People in our community need a timely diagnosis to access a wide range of health, social care and other support services. Advances in the development and availability of treatments in recent years have increased this importance of earlier action. If left unsupported, and without access to a diagnosis and specialist support, these negative experiences can have a significantly detrimental impact on peoples’ physical and mental wellbeing. It’s therefore vital to improve how early individuals get diagnosed so they can get the full range of support they need and deserve.  

Findings from our 2023 surveys revealed that people living with a muscle wasting and weakening condition are often misunderstood by healthcare professionals and are not referred at the earliest opportunity to specialist services, which means they miss out on vital access to treatment.  

Among the insights our community shared, were that over two in three people waited longer than a year for their diagnosis. The way that specialist healthcare operates also means it may take several more appointments, visits and referrals to get diagnosed. It took four or more meetings with healthcare professionals for the majority (55%) of respondents to get a diagnosis. 

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David Hick, 35, was told for over 20 years that there was nothing wrong with him. 

“I got diagnosed with Beckers at 35, but I started noticing a decline in my health in high school. My parents took me to several doctors who told me there was nothing wrong with me and I was just being lazy. After a while, I started believing them and ignoring what my body was trying to tell me. I felt like I just wasn’t good at certain things which really affected my confidence in my early 20s. 

“A couple of years ago my GP referred me to a spine specialist for an MRI scan after I pulled a muscle that wasn’t healing. They told me they couldn’t see anything wrong, but my partner was adamant they needed to run more tests. Five months after a neurologist had done some blood tests, I got an unexpected phone call at work to tell me I had Beckers muscular dystrophy.” 

We’re calling on the next Government to deliver five key priorities for our community. One of these priorities is ensuring people living with a muscle wasting and weakening condition can get a timely diagnosis, and the earliest access to the right treatment, care and support.  

We need the next Government to work on improving early access to treatment, care and support by the right specialists, to tackle the long running challenges people in our community face in trying to access the right support because of a lack of diagnosis, delayed diagnoses, or even misdiagnoses.  

Newborn screening is vital for early diagnosis, and as new treatments that can transform the lives of people with muscle wasting and weakening conditions become available, we’re calling for the process to add these conditions to the NHS newborn screening programme to be sped up. Newborn screening is an essential tool for early identification of conditions and timely diagnosis. This will also help to minimise the time between new treatments being made available and people with a condition being able to access them. 

For older children and adults, regardless of which muscle wasting and weakening conditions they have, the next Government should focus on getting people on the right diagnostic pathway as soon as possible, which will provide them with faster access to treatments, which we know is important across conditions.  

Find out more about our work and where to get support  

  • See our full general election 2024 manifesto to find out what else we’re calling on the next Government to deliver for people with muscle wasting and weakening conditions.  
  • Read more on our general election hub page to find out how you can participate and engage with your future representatives.  
  • Find out more about our campaign work to improve the quality of life for people affected by muscle wasting and weakening conditions, to ensure access to the best possible holistic support. 
  • Visit our website to read more about support available if you’ve just been diagnosed. You can also get support from our helpline
  • Get in touch with us at campaigns@musculardystrophyuk.org if you have any questions or would like to get involved. 
  • Sign up to our monthly e-newsletter and be the first to hear about our latest news, campaigns, research and ways you can support us. 

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