A recent study by Muscular Dystrophy UK has revealed 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 an 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.”
Georgina Carr is Chief Executive of the Neurological Alliance, a coalition of more than 90 organisations that represent people affected by neurological conditions in England.
She said:
“This is a welcome insight into the experience of living with a muscle-wasting or weakening condition. The importance of being set on the right diagnosis pathway and then being supported by non-specialist neuromuscular healthcare professionals is shared across neurological conditions.
“The Neurological Alliance will shortly be publishing work we’ve undertaken in collaboration with healthcare professionals and with support from Muscular Dystrophy UK on the neuromuscular patient pathway, which highlights the crucial role played by community and non-specialist health services. We look forward to working with Muscular Dystrophy UK and other partners to improve access to the right healthcare support at the right time.”
Mother of two, Naomi Little, 26, from Swindon, has had severe scoliosis since she was a child. Whilst 18 weeks pregnant with her eldest son, she discovered she had muscular dystrophy. Frankie, now age three, and Freddie, two, also have the same condition.
Despite receiving years of care for scoliosis, muscular dystrophy had never been discussed. Naomi, who has received vital support from the charity after calling their free helpline, agrees that more needs to be done to raise awareness.
She said:
“I’d had five miscarriages prior to falling pregnant with Frankie, it felt like a miracle. Everyone says having a child changes your life, but for me, that was true in more ways than one.
“During a routine pregnancy appointment, they suspected it was more than scoliosis. I was later diagnosed with Bethlem Myopathy. The consultant said it was likely Ullrich muscular dystrophy, but as I was being diagnosed as an adult, they couldn’t label it as that condition.
“It was shocking, I’d gone my whole life without knowing. We learnt Frankie would have a high chance of having the condition and they offered us an abortion. After the birth of both boys, we had to spend months in hospital due to different complications. The boys are so alike in many ways, but Ullrich has presented quite differently in them.”
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: [email protected].
For more information about Muscular Dystrophy UK visit musculardystrophyuk.org or call our free helpline on 0800 652 6352 (open Mon – Thu 10am – 2pm).