The East Midlands Paediatric Metabolic Service provides care for Children and Young People with a variety of diagnosed and undiagnosed inherited metabolic disorders. Working in partnership, the Leicester and Nottingham metabolic services have collaborated in order to provide excellent care to children and young people living in the East Midland’s with a metabolic condition. Below is a list of some of the conditions we manage within the metabolic service:
- Phenylketonuria (PKU)
- Hyperphenylalaninemia
- Tyrosinemia
- Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
- Ornithine Transcarbamylase Deficiency (OTC)
- Methylmalonic Aciduria (MMA)
- Glutaric Aciduria
- Galactosemia
- Ketolytic disorders
- Trimethylaminuria
- Mitochondrial disorders
- Homocystinuria (HCU)
-
Familial Hypercholesterolaemia (FH)
- Hyperlipidaemia
The Leicester site oversees the diagnosis and management of patients across Leicester City, Leicestershire, Boston, Northamptonshire and Rutland with a variety of inherited metabolic disorders aged from 0-18 years of age.
Contact Us
To contact the Leicester Children’s Metabolic Service, please use the numbers below:
- Nursing Team 0116 204 7854
- Dietitians Ext: 0116 258 5400
- Admin Team: 0116 258 7738
Leicester Metabolic Team Email – paedsmetabolic@uhl-tr.nhs.uk
Patient contact Email address - PMPE@uhl-tr.nhs.uk
Treating Our Patients
Clinics
Patients are invited to clinics at the Leicester Royal Infirmary. The frequency of patient appointments are determined by the metabolic condition. Clinics appointments with the Metabolic Nurse Specialist or Metabolic Dietitian can be arranged for more targeted support.
Remote Care
We aim to manage the majority of our patient’s symptoms and wellbeing remotely. Where necessary, patients are provided with emergency regimes, so that should they become unwell at home they can be supported to stay at home with regular contact with the metabolic team.
What should I do if my child is unwell?
Non-Urgent Advice
If your child has an emergency regime, it is important that you always follow it during times of illness. For non-urgent advice during working hours, Monday to Friday 8am – 4pm, please contact the metabolic team on the above numbers. Outside of this time, for non-urgent advice please call the hospital switchboard and ask to speak to the children’s medical registrar. They will ask for some details about the child or young person’s condition in order to provide advice, or to seek specialist advice for you.
Emergency Help
If you are concerned about your child at any time, please attend your local hospital Emergency Department. In an emergency, you should call 999 for an ambulance, and tell the operator that your child has a metabolic condition. Always start your child’s emergency regime if they have one.
Transition
Transition is a gradual process that gives the young person and everyone involved in their care time to get ready to move to adult services. The young person’s changing healthcare needs as they enter the world of adulthood will be discussed. We recognise that all young people are different, and so will be ready to transition at different ages. Patients are able to transition to adult services from the age of 16. Our patients frequently transition to adult services at the Queen Elizabeth Hospital (Birmingham) and we offer support throughout this process. If the young person is moving out of the area to pursue a career or further study, they can have their care transitioned to a centre closer to where they will be living.
New Referrals
Patient referrals should be written from a medical professional, such as a General Practitioner (GP) or Paediatrician.
For patients living near Leicester, the referral should be addressed to Dr Joanne Forster and either emailed securely to The Metabolic administrator at paedsmetabolic@uhl-tr.nhs.uk, or posted to:
Secretary to Dr Joanne Forster
Metabolic Co-ordinator
Children's Administration Centre
Leicester Royal Infirmary
Balmoral Level 0
LE1 5WW
Further Support
Holidays or Travel – We recommend that patients take supplies of feeds and medication with them when travelling on holiday, you may need to order additional supplies before travelling. The metabolic team can provide holiday travel letters and additional Emergency Regimes for children and young people who are travelling abroad. Where appropriate, we can provide translated copies of these documents, however these documents can take 8 weeks to prepare so please contact us early to avoid any delay. Patients should always consider arranging independent travel insurance before any travel.
Support for schools and nurseries
The metabolic team recognises the importance of your child receiving the best possible care in all areas of their life. The metabolic team can provide education to the teachers and staff at your child’s school to ensure that they are able to meet your child’s healthcare needs. Where appropriate, healthcare plans are provided to support patients to be able to attend Nursery, School and College alongside their peers. Please discuss this with the metabolic nurses if you think this would be appropriate for your child or young person.
Feedback
We welcome feedback from all of our service users in order to continue to improve the East Midland’s Paediatric Metabolic Service.
Information of how to provide feedback based on your experience with our service can be found at www.leicestershospitals.nhs.uk/patients/thinking-of-choosing-us/patient-experience/
Members of the Metabolic Team
Metabolic Consultants
- Dr Joanne Forster - Consultant Paediatrician
- Dr Sarah Hulley - Consultant Paediatrician (Sheffield Children's Hospital)
Metabolic Clinical Scientists
- Lorna Maddocks – Clinical Bio-Chemist
Metabolic Nursing Team
- Mikyla Holyland – Paediatric Metabolic Nurse Specialist
- Michelle Saunders – Paediatric Metabolic Nurse Specialist
- Chloe Thompson - Paediatric Metabolic Nurse Specialist
Metabolic Dietetic Team
- Gurpreet Tatter – Senior Paediatric Metabolic Dietician
- Rachel Hudgeton - Paediatric Metabolic Dietitian
- Katie Harrison – Paediatric Metabolic Dietitian
- Hannah Harding - Paediatric Metabolic Dietitian
Metabolic Admin Team
- Mehwish Yousaf - Administration Manager
Metabolic Pharmacist
- Priya Dattani – Metabolic Clinical Pharmacist
Metabolic Social Worker
- Rachael Jones – Specialist Metabolic Social Worker
Metabolic Psychologist
- Susan Lawton - Metabolic Psychologist
Regional Team
- Emma Buckley – Regional Lead Nurse, East Midland’s Paediatric Metabolic Service
- John Taylor – Regional Network Co-ordinator, East Midland’s Paediatric Metabolic Service
Charities and Support Groups
Metabolic Support UK – One of the leading IMD charities providing support, advice, peer groups, patient stories, blogs and webinars to thousands of patients worldwide.
The Campbell Burns Metabolic Trust – Provides a variety of support for families of children under 10 years old with an IMD. This includes financial support and recreational activities for children and their families.
National Organization for Rare Disorders (NORD) – NORD offers information, resources and access to support groups for a variety of metabolic disorders, including: MCADD, PKU, MSUD, Galactosaemia, GSD, Organic acidemias and CGD.
Galactosaemia Support Group – Provides opportunities to connect with other patients and families affected by Galactosaemia.
National Society for Phenylketonuria - National charity for people living with PKU. They offer support, community, advocacy and research surrounding PKU.
Association for Glycogen Storage Disease UK – Offers support, fundraisers, publish a magazine, access to conferences, patient stories and information about Glycogen Storage Disease.
British Inherited Metabolic Disease Group - Meetings, workshops, education, membership and emergency guides for metabolic diseases. They aim to improve care for metabolic disorders through research and policy change.
British Heart Foundation - Fund approximately £100 million of research into heart, circulatory and metabolic disorders.
Cure and Action for Tay-Sachs Foundation. They provide families with a variety of support including respite, equipment, funeral grants, and a network connecting families. They have an app which includes information on symptom management, the disease and care advice.
Save Babies Through Screening Foundation - Advocating for the comprehensive screening of all new-borns. They offer advice and support to pregnant families and families receiving positive screenings and diagnoses.
National MPS society –Provide support for families affected by 1 of the 25 mucopolysaccharide diseases. They offer video call advocacy clinics, befriending support clinics, events, sibling support, respite care, palliative care, counselling & mindfulness courses.
The Batten Disease Family Association – offers guidance and support to families, educational training for schools, lease with batten disease specialists, provide workshops for families, connect families together to support each other and provide small grants to families of children or young people living with Batten disease.
Gauchers Association – support families affected by Gaucher Disease, they offer patient and family advocacy service, counselling services and support work. They also offer a membership service.
NPUK – provide support and information about Niemann-Pick diseases, offer a 24-hour help line, an annual family conference and the opportunity for families to connect. www.Thelilyfoundation.org.uk - The Lily Foundation offer support and advice to children, young people and their families with Mitochondrial Disorders.
www.Rareminds.org
