Meeting secured over 22q11 early screening by Banff and Buchan MP
A North East MP will underline the importance of early genetic disorder diagnosis with a UK Government Minister.
Babies with DiGeorge syndrome, or 22q11 Syndrome, can be born with congenital heart disease, defects of the palate and a range of development issues which can lead to the disease being misdiagnosed.
This results in patients receiving the wrong kind of care and support which may impact on their quality of life, mental health and employment opportunities.
Banff and Buchan MP David Duguid recently marked the national awareness day for 22q11 (on November 22), and is looking for ways to increase awareness of a condition that is judged to be rare, but is second only to Down Syndrome in its frequency among births.
It is estimated that 98% of cases in the UK are undiagnosed at birth.
During health questions at the House of Commons, Mr Duguid was offered a meeting on the subject by Minister of State Caroline Dinenage MP.
Scottish Conservative Mr Duguid said: “22q11 syndrome is second only to Downs Syndrome in its prevalence as a genetic condition.
“Perhaps surprisingly this condition, which often leads to avoidable mental health issues in children, has a remarkably low level of awareness among GPs.
“Will my honourable Friend meet with me to discuss options to increase awareness in the first instance, but also to improve on early diagnosis and treatment of this condition?”
Mrs Dinenage congratulated Mr Duguid, the chairman of the All Party Parliamentary Group (APPG) on 22q11, on “excellent work” done so far on raising awareness of the condition.
Mr Duguid has been working with the Charity Max Appeal through the APPG to promote awareness for the campaign and call for earlier screening for the rare disease.
He said later: “I am pleased the minister understands the important message of how harmful late diagnosis is in 22q11.
“Misdiagnosis can lead to inappropriate treatment which often has an adverse effect on the child and their family.
“Mental health issues later in life, as a result of misdiagnosis or lack of effective treatment, can cost the NHS far more than effective and early screening
“Such screening can be incorporated into existing test procedures, such as heel-prick tests, for newborns.”