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


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22q11 Awareness Day
22nd November 2018

The hidden cost of 22q11

header logoMax Appeal highlights the need for early diagnosis
and releases new film to mark awareness day.

Thursday 22 November 2018 marks the awareness day for the genetic syndrome 22q11. 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.

Julie Wootton, Founder of Max Appeal, in memory of her son Max said:
'22q 11 affects thousands of children every year but is massively misdiagnosed. Too many children are being failed and we see parents becoming the 'experts'. Early diagnosis is pivotal to how children adapt to adulthood and achieve good outcomes. We are currently working with David Duguid MP and Chair of the All Parliamentary Group on 22q11 to seek the introduction of routine screening for 22q11.'

David Duguid MP 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.'

To encourage wider awareness and understanding of 22q11, Max Appeal has released a video for GP's and medical students which includes guidance from top experts on how to spot the syndrome.

View here:

https://www.youtube.com/watch?v=sS91TvxGmrI&t=43s Right Arrow

Echo Project team at Cardiff University researching 22q11

Image: final_bbc_wales_cardiff-group_(1_of_15)_(1)_medium.jpgThe research on 22q11 by the Echo project team features on BBC Breakfast on 22nd November, 22q11 awareness day.

Filming took place at Cardiff University with Professor Marianne van den Bree and Dawn and her daughter Eloise who took part in the study.

Julie Wootton, Max Appeal and Sian Lloyd BBC correspondent are photographed with the team.

Julie's BBC interview

Image: final_bbc_wales_cardiff-profiles_(39_of_47)_(1)78248240_medium.jpgJulie took part in an interview about Max Appeal's work on 22q11 at the Heath Children's Hospital. The hospital are one of the few places providing a specialist clinic for 22q11 DS.