MP calls for review into diagnosis and treatment of DiGeorge syndrome

A Scottish Tory MP has called on the Government and NHS to conduct a review into the diagnosis and treatment of a genetic condition called DiGeorge syndrome.

David Duguid (pictured) told MPs in the Commons that such a review should be in consultation with DiGeorge syndrome sufferers and their families.

Under his proposed Bill, he added the NHS should be required to develop and publish a strategy for DiGeorge syndrome after the completion of a review.

DiGeorge (22q11 deletion) syndrome is a genetic disorder caused by the deletion of between 30 to 40 genes in the middle of chromosome 22 at a location known as 22q11.2, he said.

Recent estimates suggested it might affect one in every one thousand births, he added.

The MP for Banff and Buchan said: “Everyone with 22q is affected differently and most children with the condition survive to adulthood and enjoy a normal lifespan and independent life, however 22q can lead to a range of health issues which can affect quality of life and even shorten lifespan.

“Congenital heart disease is a common concern, as well as defects in the palate and a range of learning difficulties.”

Common misdiagnosis often led to 22q patients receiving the wrong kind of care and support “with potentially disastrous effects”, he said.

Mr Duguid said: “Because the different treatments offered can be as varied as the root causes themselves, children with 22q often develop other medical issues, particularly concerning mental health, which could otherwise have been avoided if diagnosed correctly.”

He spoke about the relative lack of familiarity of 22q among GPs and the importance of early detection, adding: “Because of this, many symptoms go unnoticed until they have already progressed considerably and it’s this blind spot that not only incurs additional costs to the NHS in the long term but also has a terrible impact on patients, their family and carers, as well as affecting employment, quality of life and mental well-being.”

His DiGeorge Syndrome (Review and National Health Service Duty) Bill was listed for a second reading on October 26 but is unlikely to become law due to a lack of parliamentary time.

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