After doing our general training and rotating round different specialties, dietitians will often specialise in a specific area of dietetics. Some dietitians prefer the buzz of intensive care or acute wards and others prefer to do clinics or home visits out in the community. The specialism of Inherited Metabolic Disorders (lets call it IMD for ease!) is all encompassing! Mainly out patient clinics within hospital, but the chance to also leave the hospital for home visits or meetings and then off to visit the wards or intensive care if patients are admitted. Inherited metabolic disorders are genetic inherited conditions so people are born with them and they are treated for life rather than cured. This means they will have regular visits to clinic for treatment and review so we get to know our patients well. Working with adults with IMDs means we are at the forefront of their treatment. It is a young patient population as 20-30 years ago some of these people were not surviving infancy. Now medicine and understanding is improving they are living to adulthood and leading the normal lives of adults; school, college, work, meeting people and starting families. But with this it brings new challenges – leaving home, starting work, pregnancy – lots of things to think about when following dietary restrictions and having to look after yourselves when unwell.
In adults there is a growing body of evidence that high phenylalnine concentrations in the blood and brain can cause problems with executive functioning, anxiety, low mood and reduced quality of life. A low phenylalanine diet is the main treatment for lowering phenylalanine blood and brain concentrations in PKU, so as dietitians we are an important part of their care. Other IMD disorders include disorders of fatty acid oxidation, protein disorders; urea cycle disorders and organic acidaemias and carbohydrate disorders; galactosaemia and glycogen storage disorders, which all require special diets as part of their treatment.
The thought of being an IMD dietitian can be quite daunting as we look after a number of different disorders requiring different dietary treatment, but the variety is interesting and it keeps you on your toes. Help is always at hand as we work closely with our team doctors, nurses, pharmacist, psychologist, physio and biochemists.
Our display for patients at our PKU clinic
We provide specialist modular feeding regimens for patients that require tube feeding and educated patients and their carers on how to look after themselves if they are unwell. We are contacted by patients if they are unwell and give nutritional advice to try and keep them out of hospital. If they do unfortunately have to come into hospital for treatment then we would see them in hospital or call our dietetic colleagues in the local hospital to give advice. Sometimes we organise events for our patients which could include an afternoon learning about pregnancy and their disorder or a meal out together so they can meet other people with the same rare disorder.
There is plenty of opportunity for research and audit and we often go to conferences (home and abroad) to present posters, give presentations or learn lots. We need to spend time reading up on the latest papers and findings for different disorders.
Poster presentation at European conference in Rome.