To mark last week’s National Metabolic Disease Awareness Week, Swedish Orphan Biovitrum (Sobi) has launched a new website called “Let’s Talk Tyrosinaemia“. The website is designed to enhance the portfolio of support materials available for parents and carers of children diagnosed with tyrosinaemia type 1, a very rare, genetic, metabolic disorder that affects 1 in 100,000 babies in the UK.
People with hereditary tyrosinaemia type 1 have problems breaking down an amino acid called tyrosine. Toxic by-products are formed and accumulate in the body, which can cause liver, renal and neurological complications. In the most common form of the disease, symptoms arise within the first six months of the child’s life. Approximately 1,000 persons worldwide are identified as living with tyrosinaemia type 1 today.
The “Let’s Talk Tyrosinaemia” website was developed with the help of specialist healthcare professionals providing information and guidance, along with real-life hints, tips and advice from parents and carers, about living with, and managing the condition, from first diagnosis through to the age of 18 and beyond. It includes a wealth of information on nutrition, practical advice on how to support a child at school and how to get psychological help. A recent study highlighted the needs of affected families for educational and emotional support as well as further understanding of living with this life-long condition. This research helped inform the design and implementation of the website as part of the ‘Let’s Talk Tyrosinaemia’ programme.