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Monday 18 January 2021
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Metabolic medicine team and patients
The Metabolic Medicine Team with patients Ben and Donna

Raising awareness of rare diseases

Patients living with rare diseases were special guests at an event to raise awareness of the conditions treated at Salford Royal’s specialist metabolic centre.

 

A metabolic disorder occurs when there are abnormal chemical reactions in your body. You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. 

 

Without early identification and/or introduction of a specialist diet or drug treatments, patients face severe disruption of metabolic processes in the body such as energy production, manufacture of breakdown of proteins and management and storage of fats and fatty acids.

 

The Mark Holland Metabolic Unit at Salford Royal is one of only five units in the country specialising in these rare diseases, which include Gaucher Disease, Tay Sachs Disease, Fabry Disease and Pompe Disease.

 

Patients Ben Parker and Donna Beresford have Pompe disease, an inherited disorder caused by the build-up of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.

 

Donna, who travels from Huddersfield for appointments in Salford, was diagnosed 12 months ago.

 

She said: “I started noticing about four years ago that it was becoming harder to get up out of a chair or climb up the stairs, things that I was always able to do were becoming a struggle.

 

“I don’t mind about the journey to Salford because I just feel very fortunate that there is somewhere that specialises in my condition; I call them my Pompe family. I want to get involved as much as possible in raising awareness so I can reach out to people who may be in the same situation as I am.”

 


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POMPE patients Ben and Donna
POMPE patients Ben and Donna

Ben, who now lives in Shropshire and attends a treatment centre in Birmingham, was diagnosed in 2007 and was a former patient at Salford Royal. He said: “It was great to have a team that understands what you are going through – rather than me having to educate a GP about the condition, finally someone could educate me.

 

“Specialist centres like the one at Salford take a holistic approach to care so they are not only treating the condition but they also look after your mental health and that is fantastic.”

 

Staff from the Metabolic Medicine Team hosted an information stand at Salford Royal (24 Feb – 27 Feb) to raise awareness of the rare disorders and treatments available.

 

Stuart Forshaw-Hulme, Metabolic Lead Nurse, said it was a great opportunity to highlight the support available to anyone suffering with a rare condition.

 

He said: “Patients with a rare condition can often feel isolated because at times it feels like nobody understands what you are going through.

 

“Metabolic conditions tend to be very complex and so our specialist team includes experts such as metabolic consultants, dietitians, physiotherapists, pharmacists, specialist nurses and research teams with support from neurologists, radiologists and cardiologists, to name just a few.

 

“It’s important to raise awareness of these rare diseases and provide reassurance to people out there that there is support available and we can help them live a full life after diagnosis.”