Genetic metabolic disorders Information sheet

Introduction

We understand that receiving a diagnosis for your child can feel overwhelming; our team is here to support you and your family from the very beginning.

Useful information

We work alongside you to help keep your child safe and well, both in hospital and at home. We provide specialised medical care, nursing support, dietary guidance, emergency care plans, and education to help you understand your child’s condition and its management. 

We also work closely with your local hospital, GP, childcare, school, and other community services to make sure care is coordinated and consistent.

If your child is unwell

If your child has any of the following: 

  • vomiting
  • diarrhoea
  • eating or drinking less than usual
  • temperature over 38°C
  • excessive sleepiness or low energy

Please contact the Metabolic team on 7825 0000 and ask to speak to the On-call Metabolic Doctor (8:30 am to 8pm Monday to Friday)

Outside these hours, please go to your local Emergency Department. Please take your Emergency Management Plan with you.

What to bring to hospital

Some children need a little longer in hospital than expected while they start to recover. 

This can vary, and the Metabolic Team will make sure your child is improving and safe before going home. 

To help make things easier, we recommend packing enough supplies for a longer stay just in case, including formula and any essential medications.

Essential items

  • Emergency Management Plan
  • all medicines
  • supplements or formula
  • feeding or respiratory equipment
  • child’s Blue Book (if under 2 years old) 

Personal items

  • comfort toy
  • clothes and sleepwear
  • toiletries
  • phone and charger

Pharmacy repeat orders

You can order your child's medications online via the webform or by phone. 

Orders must be placed three days before they will be ready for collection.

Social work support

Social Workers support patients and families with non-medical issues that may affect health, wellbeing, and day-to-day life. We can provide:

Emotional support

  • Counselling and supportive conversations
  • Support groups
  • Aboriginal Liaison Support
  • Chaplaincy Services    

Adjustment to diagnosis

  • Understanding your child’s condition
  • Support with new routines, care requirements and treatments

Care coordination

  • Communication with healthcare teams, schools, employers and community services
  • Arranging multidisciplinary meetings
  • Coordinating care with internal and external professionals involved in your child's care

Accessing resources

  • Connecting patients and families with practical supports and community resources.
  • Financial supports(Carers Allowance, Carers Payment) 
  • Transport and accommodation assistance
  • Community support programs
  • National Disability Insurance Scheme (NDIS)
  • IPTAAS    

Advocacy

  • Helping patients and families navigate healthcare, education, and social service systems.
  • Understanding your rights and responsibilities within NSW Health
  • Accessing interpreting services to meet cultural and language needs
  • Advocating for reasonable adjustments within the hospital setting to support your child's needs

Future planning

  • Supporting patients and families through important life transitions, including:
  • Starting childcare or preschool
  • Beginning school
  • Transitioning to adult healthcare services

We can also help connect you with the most appropriate teams, services, and resources to support these transitions.
 

Useful contacts

For general (non-urgent enquiries)

Urgent Medical Advice

There is a Metabolic Doctor On-Call (8:30am-8pm, Monday to Friday)

  • Phone: (02) 7825 0000 and ask to speak to the On-call Metabolic Doctor
  • When speaking with the on-call Metabolic doctor, please state:
    • Child’s name
    • Child’s age
    • Child’s condition/diagnosis
    • Reason for your call
  • Outside of these hours, please go to your local hospital or commence your unwell plan. 
  • Contact the Metabolic Team in the morning for review.

Metabolic dietitians

Change of appointments

  • Please phone Outpatients Department: (02) 7825 2525
  • Monday to Friday 8:00am to 4:00pm