Ivy'v Story What care and support is available for those with deletion 22q11 syndrome?


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Landmark moment for Stourbridge family's screening plea

Stourbridge News

Image: raising_private_members_bill_247850544_medium.jpgA STOURBRIDGE family's near 20-year quest to raise awareness of a little-known genetic disorder has enjoyed a huge breakthrough in Parliament.

Wollaston couple Paul and Julie Wootton lost their son Max, aged just four months, to the rare Di George Syndrome condition in 1999.

They set up the Max Appeal charity in his memory and have been campaigning for a screening programme to catch the condition also known as 22q11.2DS in the days after birth.

www.stourbridgenews.co.uk/news/16291627.Landmark_moment_for_Stourbridge_family__39_s_screening_plea/ Right Arrow
Scottish MP David Duguid has taken up their case and last week proposed a members bill in Parliament for 22q11 to be added to the blood spot tests offered to all babies at five days old.

The 10-minute motion received unanimous support and has advanced to a second reading in October, much to the Wootton's delight.

Julie said: 'Max Appeal hopes the Bill will be successful and help to provide early detection and treatment to the second most common chromosomal syndrome (after Down's) which affects thousands of children every year.

'The screening could be done by using heel prick tests that are given to babies and used for screening of Severe Combined Immunodeficiency (SCID), which is currently being trialled in the UK.

'Currently, nine rare but serious health conditions are tested for in the heel prick test and by including 22q11 it would only add a small cost to the test.'

Mr Duguid MP who chairs the 22q11 All-Party Parliamentary Group (APPG) callesd for the Secretary of State for Health and Social Care to conduct a review into the condition.

The Conservative MP also called for the NHS to publish a strategy once the work is complete.

Prior to his Parliament address, Mr Duguid had said: 'I am calling for the introduction of a screening programme so there is a better chance of catching the rare genetic disease (in time).

'At present it's 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 can 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.'

Mrs Wootton added: '22q11 is frequently misdiagnosed. We know that delays in diagnosis not only have adverse effects on the child and family but also treatment costs for the NHS are likely to be less efficient in the long term.'

The effects of 22q11 are wide-ranging, including congenital heart disease, defects of the palate, learning difficulties, muscular and spinal problems and poor immune systems.

Mr Duguid was made aware of 22q11 through a constituent and has since worked closely with Max Appeal and the APPG on the issue.