Paediatric inherited metabolic medicine - sub-specialty

1. What makes a metabolic paediatrician?

A metabolic paediatrician is a clinician who cares for children and families who have inherited disorders that affect the body’s normal biochemical reactions. There are many rare metabolic disorders that can affect the function of any organ system and can present at any age.

They have detailed knowledge of normal human biochemistry and the impact of metabolic diseases, and use this knowledge in the diagnostic process (including identifying novel disorders) and in planning management strategies. They strive to improve the early recognition and diagnosis of metabolic diseases, including through newborn screening.

Metabolic paediatricians work closely with laboratory scientists, metabolic dietitians, pharmacist specialists and nursing teams. They are research-active and keep up to date with the rapid and innovative developments in therapeutics for metabolic disorders. They are advocates for their patients, actively engaging in developing and commissioning high-quality services and evolving therapies.

2. A day in the life of a metabolic paediatrician

By Dr Siyamini Sivananthan, Metabolic Paediatrician in London

"There is no such thing as a standard day – every day brings unique joys and challenges, and you will probably find yourself at some point in your career dealing with a child with a newly recognised condition and/or treatment. But that’s all part of what makes the sub-speciality so interesting!

"When on-call, you will typically direct the inpatient management of a small number of patients in a large tertiary children’s hospital; what our ward rounds may lack in numbers they more than make up for in complexity and intellectual stimulation! You will field calls from paediatric colleagues across your (geographically large) region. This may be about acute management of children with known inherited metabolic disorders (IMDs) or queries about investigating children who have signs and/or symptoms of an IMD. The “buzz” you get from seeing one of your hunches prove true doesn’t go away even after many years! You can never predict when a new acutely unwell child will be diagnosed and then it can be action stations as they are transferred urgently to your PICU.

"It’s not often that a metabolic paediatrician might be called in out of hours – but this is one such situation and it can be immensely gratifying to see some of the sickest babies recover quickly once their IMD is diagnosed and treated. Sadly not all conditions are treatable and a metabolic paediatrician spends many a day counselling families that their child has an untreatable IMD. When on call you might also be seeing families diagnosed from the newborn screening programme – and it’s an exciting time as the number of conditions screened for is expanding, and the Generation Study may detect even more babies before they ever develop symptoms.

"When not on call, a metabolic paediatrician may be seeing patients with the whole range of IMDs in outpatients along with members of your MDT – specialist nurses, dietitians, physiotherapists, psychologists, pharmacists – the list goes on. It is incredibly rewarding to follow children through their lives with an IMD, hopefully watching them become adept at managing their condition independently and transitioning them onto adult services.

"You might also be involved with your own research and/or involved in a number of clinical trials into rare diseases. Due to the rarity of IMDs, many trials are run across a number of centres and metabolic centres are one of the largest users of Clinical Research Facilities. With the advent of gene therapies, the number of conditions for which truly life-altering therapies may become a reality over your working life is rising. Add into this mix teaching students, PGDITs and colleagues in secondary care about IMDs, developing and sustaining metabolic networks and so much more – you can see why every day as a metabolic paediatrician can be unique!"

3. How and where to experience paediatric inherited metabolic medicine in your early medical career

There are a variety of ways to experience paediatric inherited metabolic medicine in your early career. One way is to organise taster weeks in PIMM centres. The PIMM CSAC trainee representative is well-placed to help make introductions with local metabolic centres and can help talk through placement options.

There are also several metabolic outreach clinics that occur regularly in hospitals throughout the country, so one can also gain exposure by attending these clinics, these might be more accessible during training. You can enquire about this locally or contact the CSAC team directly for further advice. Wherever you are training, it is likely that your hospital will have a metabolic department that it usually refers to and your supervisor should be able to put you in touch with someone from that unit. This may or may not be one of the PIMM training centres but is a very good place to start enquiring about gaining metabolic experience.

There has been a huge increase in clinical trials for our PIMM patients, another source of experience would be to spend time on clinical trial units to understand how the field is continually changing and what novel therapeutic options are being developed.

In addition to this, there are annual meetings organised by the British Inherited Metabolic Disease Group (BIMDG) as well as smaller training meetings which provide useful educational and networking opportunities. The BIMDG trainee representative would be a good point of contact for any other educational opportunities that are on offer.

4. Applying to a paediatric inherited metabolic medicine programme

Firstly we would advise getting in contact with the PIMM CSAC trainee representative for advice about gaining experience in PIMM and for advice on applying to the sub-specialty.

Clear evidence of your motivation to pursue a career in paediatric inherited metabolic medicine is important. Evidence that you have sought out opportunities during your training to gain an understanding of what the sub-speciality involves and a clear idea of what you have gained from the experience will be good to demonstrate.

It is important to demonstrate that you have experience and enjoy working as part of a multi-disciplinary team (involving not just medical specialities but a range of allied health professionals) since PIMM as a sub-specialty delivers care in a truly multi-disciplinary way.

In addition, an awareness of the impact of clinical research within the field is important. PIMM is an ever-evolving field, and we are developing more and more novel therapies which are moving into routine clinical practice. An understanding of how the sub-specialty is evolving through research into new therapies and methods of diagnosis is very important.

Above all, the assessors are looking for someone who is passionate about PIMM and someone who has an interest in continuously learning throughout their career. 

5. Information for paediatric inherited metabolic medicine trainees

The CSAC training advisors can be contacted with regard to training-related queries including consultant jobs and for advice about what happens at the end of training. Whilst “special interest” consultant posts containing some time in PIMM are advertised from time to time, sub-specialty training in PIMM should be seen as a route to becoming a practising sub-specialist metabolic paediatrician, and the speciality has an excellent record of trainees being appointed as substantive consultant metabolic paediatricians in the UK and abroad upon, or shortly after completing higher specialist training.

External links

To find out more about paediatric inherited metabolic medicine, the CSAC recommend the following websites as useful resources:

• British Inherited Metabolic Disease Group
• Gauchers Association
• Society for the Study of Inborn Errors of Metabolism
• Metabolic Support UK