Action Medical Research – Rare Disease Day

Danny was diagnosed with Hunter syndrome when he was three years old, having had a history of developmental delay. Tragically, tests would find that he had the worst possible outlook – a complete gene deletion in his DNA. His parents are painfully aware that time with their youngest son will be cruelly cut short by this rare disease.

Hunter syndrome almost exclusively affects boys. It’s caused by a faulty gene that leads to the lack of an enzyme that’s vital for breaking down sugars in the body. Without this enzyme, waste sugar molecules build up in all the major organs, tissues and joints, causing a range of problems.

Action Medical Research is supporting a team at the University of Manchester who are testing a new way to overcome the problem of getting much-needed treatment into the brain. This could one day transform the outlook for boys like Danny.

Full family story and link to Action funded research can be found on the Action website.

This post was supplied by our featured charity, Action Medical Research. Action Medical Research is a leading UK-wide charity saving and changing children’s lives through medical research. For 70 years they have helped pioneer ways to prevent disease and develop treatments benefiting millions of people. Action’s research has helped to beat polio in the UK, develop ultrasound in pregnancy, fight meningitis and prevent stillbirths. But they urgently need to develop more new treatments and cures for sick babies and children.

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