Councillor calls for better care for genetic condition
Councillor Pauline Drysdale wants Scotland to adopt a care pathway for 22q11 Deletion Syndrome.
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 Conservatives councillor wants to see similar treatment and recognition of 22q Deletion Syndrome 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, Councillor Drysdale tabled a motion calling for Dumfries and Galloway Council to write to the 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 at location q11.2.
It occurs in approximately 1 in 4000 live births. It 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.
At last week’s council meeting, Councillor Drysdale said: “In Ireland, we see the governments and councils progressing and having a look at the syndrome in more detail.
“So, 22q11 in Ireland actually now offers lifelong support for those impacted and infect impacted by 22q11, and they welcome families living with 22q deletion syndrome with open arms.
“They’ve built a clinical pathway and holistic care model that will actually help 22q11 patients and their loved ones throughout their lives.
“And our motion today requests that we do the same in Scotland for every child and family affected by this disease.”
Councillors backed the motion, with council leader Stephen Thompson saying: “Happy to support this and, if it’s helpful, happy also to pen the letter (to the Health Secretary).”
Currently in Dumfries and Galloway there are a very small number of children known to have this condition. There is no specific pathway in NHS Dumfries and Galloway or wider in NHS Scotland for this condition.
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, particularly cardiac symptoms.