Children and adults with a range of rare muscle weakening conditions are being supported with individual care by a specialist team in Swansea Bay.

The South West Wales Neuromuscular Service cares for children and adults with a diagnosis of rare progressive muscle weakening or muscle wasting conditions.

Neuromuscular conditions affect the nerves that control the voluntary muscles in the body.

The multidisciplinary team, made up of consultant neurologists, nurses and physiotherapists, cares for patients right across the South-West region.

Pictured: Senior physiotherapist for paediatrics, Kate Greenfield, advanced clinical nurse specialists Georgina Carey and Fiona Davies, and senior clerical officer Beth Forey.

Staff provide a variety of support ranging from helping patients to receive and process their diagnosis, to supporting with medication and helping them live well at home.

Fiona Davies, advanced clinical nurse specialist within the team, explained: “We are a lifespan service for children and adults, and we cover lots of conditions, some of which are life-limiting.

“Living with a neuromuscular disease can be life changing and affect every aspect of their lives.

“These conditions are rare. We support around 620 patients, spanning four health boards.”

Each year, Rare Diseases Day is marked on the last day of February – the 28th or 29th in leap years to reflect the rarity – to raise awareness for patients, families and carers affected.

Georgina Carey, advanced clinical nurse specialist, added: “Within those 620 patients, there are around 50 different conditions.

“A lot of patients come to us with symptoms initially and then they often go through a diagnosis process with us.

“It can take many years to get a diagnosis. Sometimes it can be more straightforward, particularly if other family members are affected, but each case is different.

“Paediatric patients may start off with seeing a paediatrician, whereas adult patients may be seen by a neurologist and are then referred to us once they are given their diagnosis.”

Susan Coleman, from Swansea, and her family are among the many to have been supported by the Swansea Bay team.

Her son James, now aged 16, was diagnosed with myotonic dystrophy – a genetic disease which causes muscle weakening and wasting, when he was aged just five weeks.

Tests later confirmed that Susan, her father and her four-year-old son Ben, also have the condition.

Pictured: Susan with her son James.

“My dad is mildly affected by the disease, whereas I’m more affected than my dad but less than James,” she said.

“There was not a lot of information when James got diagnosed as it’s so rare.

“I had symptoms, such as weak ankles, excessive tiredness and back and neck pain, but I didn’t know I had the condition until James was diagnosed.

“The neuromuscular service has been excellent. If there’s anything we need help with, they will always come over and help us. They are always there.

“They are all so knowledgeable about the conditions, despite them being so rare.”

The multidisciplinary team provide clinics where they work together to help support each patient with the individual care they need.

This can include physiotherapy assessments, cardiac screening, lung function tests, and much more.

Kate Greenfield, senior physiotherapist for paediatrics within the service, said: “The conditions affect the muscles in the body – some conditions can affect every muscle in the body.

“Whenever a muscle is affected and it’s weaker, it means the patient won’t be able to move as easily. By the muscles not moving correctly, it can result in the joints around them tightening up.

“As physiotherapists, we look at which muscles are affected and encourage or assist them moving, whether that is through exercises, activities such as cycling or sport and using hydrotherapy and swimming.

“Our aim is to encourage and maintain independence, when able.

“We carry out assessments in the MDT clinics and within the community to determine what physiotherapy intervention is needed and to monitor the patient’s condition.

“We look at joint range, muscle function and the function of the lungs, with the outcome determining the physiotherapy support needed. This could be intervention or providing equipment to assist the patient.”

The clinics act as a one-stop shop for patients where they can access the support that is relevant to their conditions.

Donna Richards, paediatric advanced clinical nurse specialist, said: “Patients with neuromuscular conditions have access to services integrated within a multidisciplinary approach.

“Our care is holistic and patient-centred, and we aim to deliver full diagnostic and clinical management and support for families, children and young people living with a neuromuscular condition.

“My role is varied, from antenatal to helping children transition to adult services, working together and in partnership with services, sharing awareness about neuromuscular conditions which is vital for our patients to maximise their quality of life.

“There’s a lot of family-centred work involved with our service.

“As well as supporting people while they wait for their genetic testing results, we also offer support to families who have children with a diagnosis that want to have other children.

“It is a very varied role.”

Stephen Jones, from Whitland, was referred to the neuromuscular service in 2021 after being diagnosed with myotonic dystrophy.

The condition typically becomes worse as it is passed down through the generations.

Pictured: Steve with her wife Sharon.

His wife, Sharon, said: “Either his mum or dad would have had it without knowing.

“We don’t have any children, so we didn’t realise Steve had a genetic condition. By 2020, his walking was affected, he would fall down easily and frequently fall asleep during the day, as well as having difficulties using his hands.

“It took 18 months to get a diagnosis – it’s such a complex disease.

“Under the guidance of the neuromuscular team, Steve has annual blood tests and checks on his heart. He is under lots of different services.

“Steve walks with crutches and struggles with bending down or anything that needs fine dexterity, such as washing and dressing.”

Sharon said the support provided by the team had been invaluable.

“I call Fiona my fairy godmother,” she added.

“Just to know they are there on the end of the phone or an email if we need anything or are struggling. They are so informative and helpful.

“Fiona even helped put together an emergency plan for if Steve needed to go into hospital. If we turned up at an A&E, some staff may not be familiar with his condition, so the plan explains everything and has pulled all of the details together about his care from the different services he’s under.”