Managing your patients’ diagnosis doesn’t stop once they’ve received their results. Regardless of their test outcomes, knowing the next steps in their treatment journey can prepare them for the next stages.

Handling a positive result

Being diagnosed with Gaucher disease can be a life-changing experience for a patient, and may take some time to process.

During the early stages after diagnosis, it is important to keep in contact with the patient and ensure they have as many support resources as they need.

Referral to specialist centre

Following diagnosis, a patient with confirmed Gaucher disease should be referred to a specialist centre for treatment.

There are 13 specialist centres across the UK and Ireland:

Glasgow: Scottish Centre for Metabolic Diseases, Inherited Metabolic Disorders Scotland Managed Clinical Network

Belfast: Royal Victoria Hospital for Sick Children (Genetics Dept)

Belfast: Northern Ireland Centre for Metabolic Diseases, Belfast City Hospital (Adult)

Dublin: National Centre for Metabolic Diseases, Children’s University Hospital

Manchester: Willink Unit, Royal Manchester Children’s Hopsital (Paediatrics)

Manchester: The Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust (Adult)

Birmingham: Inherited Metabolic Disorders Service, Birmingham Children’s Hospital (Paediatrics)

Birmingham: Department of Inherited Metabolic Disorders, University Hospital Birmingham (Adult)

Cambridge: Lysosomal Disorders Unit, Addenbrookes Hospital (Adult)

Cardiff: Welsh Centre for Metabolic Diseases, Inherited Metabolic Diseases Service University Hospital Wales

London: Lysosomal Storage Disease Unit, Great Ormond Street paediatrics

London: Charles Dent Metabolic Unit, The National Hospital for Neurology and Neurosurgery (Adult)

London: Lysosomal Storage Disorders, The Royal Free Hospital (Adult)

Genetic Counselling

As a heritable disorder, genetic counselling for patients with Gaucher disease can allow plans for the future during their counselling sessions.

Patients can:

Learn more about a health condition that runs in their family, how
it's inherited, and which family members may be affected
Assess the risk of passing Gaucher disease on to their child
Access information about relevant support groups

Useful links

Gaucher Associations

UK-based charity dedicated to raising awareness of Gaucher disease, and those affected and their families.

Providing support and information for those affected by Gaucher disease

Adverse events should be reported. Reporting forms and information can be found at yellowcard.mhra.gov.uk

Adverse events should also be reported to Sanofi Tel: 0800 090 2314. Alternatively, send via email to UK-drugsafety@sanofi.com

Adverse events should be reported. Reporting forms and information can be found at www.hpra.ie; email: medsafety@hpra.ie

Adverse events should also be reported to Sanofi Ireland Ltd. Tel: +353 (1) 403 5600. Alternatively, send via email to IEPharmacovigilance@sanofi.com