MP calls for review into rare condition

MP David Duguid says at present the condition is only detected when another symptom prompts doctors to examine people in more detail.
MP David Duguid says at present the condition is only detected when another symptom prompts doctors to examine people in more detail.

Banff and Buchan MPDavid Duguid has called for a parliamentary review into a rare genetic condition.

Mr Duguid, who is chair of the All Party Parliamentary Group (AGGP) will propose a Bill to Parliament calling for a review into DiGeorge Syndrome, also known as 22q, the second most common chromosomal syndrome after Downs Syndrome.

The effects of 22q are wide-ranging, including congenital heart disease, defects of the palate and a range of learning difficulties, which often lead to the condition being misdiagnosed.

This misdiagnosis often results in patients receiving the wrong kind of care and support which may impact on their quality of life, mental health and employment opportunities in later life.

Mr Duguid was made aware of the condition through his constituent, Louise Henderson, who raised the issue with him at a surgery.

Her son, Alfie, was eventually diagnosed with the condition at five weeks old after he had been rushed to hospital by ambulance from the side of the road at just five days old after suffering seizures.

Mr Duguid has since worked closely with the charity Max Appeal!” and the AAPG to call for earlier and routine screening by using heel prick tests that are given to five-day old babies and screening of Severe Combined Immunodeficiency (SCID) which is currently being trialled in the UK.

He said: “I am calling for the introduction of a screening programme so there is a better chance of catching this rare genetic disease.

“At present it is only detected when another symptom prompts doctors to examine people in more detail.

“This approach cannot be relied upon.

“22q screening can be incorporated into tests that already exist, such as heel prick tests that are given to newborn babies.

“This ensures the right diagnosis and the right kind of care would be given.

“By proposing this Bill, I hope to raise awareness of this condition, and ensure a review takes place in the hope of bringing in routine screening.”