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'So what area of nursing do you work in?'


‘I’m a staff nurse for adult inherited metabolic disorders and not many nurses know what I do!’

Whenever I am asked what I do for a living I cringe. I know that the next question will be: “So, what area of nursing do you work in?” And my answer is usually met with blank looks!

“The major bonus that comes with working in our department is that I get what every nurse dreams of…the opportunity to spend 1:1 time with my patients”

I’m Becky. I’m a staff nurse, and I work in the Department of Adult Inherited Metabolic Disorders at Salford Royal Hospital. We are a small team of nurses, doctors, a pharmacist, a dietitian, a physiotherapist and much valued administration staff. I have worked here for just over two years, and can only describe it as being everything that I came into nursing for, with more variety of patient diagnoses than any ward could produce.

What do we do?

There are a large number of disorders that we treat and monitor, and these fall into two categories, deneral metabolic disorders and lysosomal storage disorders.

These disorders are all caused by inherited gene mutations which result in enzyme deficiencies. The particular enzyme the patient is deficient in will determine the symptoms that the patient presents with.

Each day in our clinic is completely different. Some of our patients are “well” adults who we simply monitor in order to ensure their disease is stable. This is the case for some of our patients who have Fabry disease. Fabry disease falls under the category of lysosomal storage disorders, and is a deficiency in alpha-galactosidase A. This prevents the breakdown of globotriaosylceramide (GL3), and as a result the GL3 is stored in the lysosomes of cells, usually in the eyes, heart, kidneys and brain. This can cause these organs to become damaged and can result in renal failure, cardiomyopathy and in extreme cases psychosis. Symptoms can include hypohydrosis, chronic pain particularly in the hands and feet, angiokeratomas and extreme fatigue.

There is currently no cure for Fabry disease. However for patients whose symptoms meet a certain criteria, there is enzyme replacement therapy (ERT) available. The purpose of ERT, is to stabilise symptoms, and prevent deteriorations. Some patients however have seen improvements.

One you may have heard of!

Some of the other disorders we treat, particularly the deneral metabolic disorders, can cause the patient to be extremely unwell both physically and mentally. Their behaviour can range from silent and disinterested, to violent and aggressive. One of the disorders we treat which most people have heard of is Phenylketonuria (PKU).This disorder is caused by the body’s inability to process phenylalanine, which is one of many amino acids found in protein foods (e.g. meat, fish, eggs, dairy etc) in our diet. In PKU, the unprocessed phenylalanine is stored in the brain and can cause learning difficulties and cardiac defects.

All babies are tested for this as part of the heel prick test at a few days old, and if they test positive, they must be put on a very strict low phenylalanine diet to ensure they can grow up to be healthy adults.

Nursing input

The nurses in our department have a large amount of input into every element of patient care. Each patient is managed individually and we aim to follow our patients and their families closely through their journey of care.

“I like to think our team helps to make their journey a little easier.”

From the day we receive a new referral we have frequent contact with our patients. Sometimes a senior nurse will visit patients at home before their initial clinic visit. This is so that we can prepare them for what may happen in clinic, as well as providing the opportunity for some undisturbed 1-to-1 time with the patient to discuss their medical history and genealogy. We also support the patient during their time in clinic and through the diagnosis process, as well as administering any treatments they may need, including ERT. Once we are sure that the patient is happy with their ERT, they will be given their treatment in their home by one of our homecare providers. We then continue to monitor the patients through regular reports from the homecare team and regular clinic appointments.

Once a person is diagnosed with an inherited metabolic condition, there is often a number of other people in their family who are at risk of suffering with the same condition. We will therefore go through the whole process described above with each individual who is identified through family screening.

Ups and downs…

The negative aspect of my work is that due to the diseases we treat being very rare, not many people (including other nurses) know a lot about our department, the work we do, or the diseases we manage.

This is why I regularly partake in awkward conversations with strangers on the bus! However, the major bonus that comes with working in our department is that I get what every nurse dreams of…the opportunity to spend 1:1 time with my patients, and the chance to really get to know them and their families. And although there is not always a happy ending with patients who have such devastating disorders, I like to think our team helps to make their journey a little easier.

Rebecca Newton has worked as a staff nurse for the department for adult inherited metabolic medicine in Salford for nearly 3 years.


Readers' comments (6)

  • sounds like a very interesting job Rebecca.

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  • oh dear, must be so hard, just tell them you work in an old peoples home, they will not want to know any more. Many people are not aware of the broad range of care and skills required for such a vast range of problems/illnesses, it actually is very interesting and requires a lot of working to very high standards with regular inspections, and using own initiative as well as supervising junior staff, carers, liaising with other professionals...I could go on, but as I said, most people think it is not very interesting. Oh and the pay is crap, so mostly we do it cos we really do care.

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  • My organization represents children and families with Krabbes disease which is an LSD. I think all the health professionals that I have met who are caring for people with LSD's do a great job. Children with Krabbes disease generally die before the age of 2. I would like to ask if you have a children's Department at Salford or are they all dealt with in Manchester? Thank you.
    Pat Roberts (Save Babies Through Screening Foundation UK)

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  • great article, it's very interesting learning about little known specialities!

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  • In reply to Annonymous 9th June.

    My apolgies, I didn''t mean to infer that other areas of specilisation were any less interesting, merely that after reading Rebecca's 'job' that it did sound interesting.

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  • Firstly thank you to everbody for your comments. In answer to your question Patricia, we do not have a children's unit here at Salford, however there is a unit at the Royal Manchester Children's Hospital called the Willink where children are diagnosed and treated until they reach adulthood and then they transfer to us. It is very difficult sometimes for us to take over the care from the children's hospital, mainly due to the differing environments and also due to the VERY strong bond the patients seem to have with the staff there. But we do our best...

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