Genetic condition campaign

A COUNCILLOR is fighting for families affected by a genetic condition to have better care provision in Scotland.

Castle Douglas and Crocketford Councillor Pauline Drysdale recently spoke out to raise awareness of 22q11 Deletion Syndrome – the second most common genetic condition after Down Syndrome.

The condition, which is also known as DiGeorge syndrome, affects around 1:1497 pregnancies and has been the subject of a comprehensive and developing care programme in Ireland over the last eight years.

The Conservative councillor wants to see similar treatment and recognition in Scotland.

She said: “We need this to bring equity of care and high quality care provision for every child and family affected by this disease.”

At last week’s full council meeting, she successfully tabled a motion, backed by all, calling for a letter to be sent to Health Secretary Neil Gray, as well as the NHS, to ask that they introduce 22q11 Deletion Syndrome into the paediatric clinical care pathway in Scotland, similar to that introduced in Ireland in 2017.

The condition is a genetic disorder caused by a missing piece of chromosome 22. It occurs in approximately 1 in 4000 live births and is associated with a huge range of problems, including congenital heart disease, pallet abnormalities, immune system dysfunction, thyroid problems, gastrointestinal issues, feeding difficulties, kidney abnormalities, hearing loss, and more.

Currently in Dumfries and Galloway there are a very small number of children with condition and there is no specific pathway in NHS Dumfries and Galloway or NHS Scotland.

Children with 22q11 Deletion Syndrome would be treated locally in terms of developmental delay and referred to a tertiary centre for treatment of their physical condition.