Earlier screening of the rare genetic disorder DiGeorge syndrome (22q11 deletion) is needed Scottish Conservative MP, and Chair of the All Party Parliamentary Group (APPG) on 22q11, David Duguid has said.
Thursday 22nd November 2018 marks the awareness day for genetic syndrome 22q11. The effects of 22q11 are wide ranging, including congenital heart disease, defects of the palate and a range of learning difficulties which 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.
It is estimated that a staggering 98% of cases in the UK are undiagnosed. Delays in diagnosis not only has an adverse affect on the child and their family, it is also a hidden cost for the NHS, social services and welfare state.
Mr Duguid has been working with the Charity Max Appeal through the APPG on 22q11 to promote awareness for the campaign and call for earlier screening for the rare disease.
David said:
“I have been calling for the screening of this condition to be offered to all parents so there is a better chance of catching it earlier and implementing appropriate treatment.
“22q11 screening can be incorporated into tests that already exist, such as heel prick tests that are given to new born babies. This ensures the right diagnosis and the right kind of care can be given.”
Adding, Julie Wootton, Founder of Max Appeal, in memory of her son Max said:
“22q11 affects thousands of children every year but is massively misdiagnosed. Too many children are being failed and we see parents becoming ‘experts’.
“Early diagnosis is pivotal to how children adapt to adulthood and achieve good outcomes.
“We are currently working with David Duguid MP, Chair of the APPG on 22q11, to seek the introduction of routine screening for 22q11.”