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


Adam

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Max Appeal Conference and AGM Birmingham 31st August, 2019

31st August 2019

Conference 2019Thank-you for all the positive comments we received about our recent conference. It takes a great deal of planning and time to organise these very valuable days. We would also like to thank all our speakers who gave up their time to attend and share their expertise. The staff at the Education Centre at Birmingham Children's Hospital for the use of the facilities and to the National Lottery for support with the funding of the event. It was great to see members fully participating in the day and hopefully better informed by the time they headed home. If there are subjects you would like to see covered at future events then please let us know by emailing us at info@maxappeal.org.uk

Some of your comments

' xxx and xxx attended our first Max Appeal conference today. So glad we came. We were very encouraged by the progress being made in medical research, increasing the understanding about 22q11ds. A lot of food for thought!'

' Well what an amazing day today at the Conference. Xxx and x I learnt a lot. Thanks to everyone involved in organising. It was really helpful.'

'It was a busy day indeed! Would have loved to have chatted to more people but also good to have so much input from professionals too. Everyone was really approachable and generous with their time.'

'Thank-you for organising the conference. So much interesting and useful information... my head is still buzzing! Lovely to meet new people too'

'What an outstanding day with a jam-packed programme! Well done to all involved in the coordination!'

'A massive thank you to Max Appeal for organising the superb one-day conference in Birmingham last month. It was so good to be able to link with other parents of adults with 22q.'
We heard from Professor Donna McDonald McGinn from the Children's Hospital of Philadelphia about the latest understand of 22q11.2 deletion and duplication syndromes. Professor Timothy Barrett from Birmingham Children's Hospital spoke about endocrinology issues in 22q11 and progress to see more patients at a specialist clinic in the hospital's Rare Disease Centre. There were also representatives from the specialist clinic at Great Ormond Street Hospital, London and the All Wales specialist clinic in Cardiff.
Nicole PenNicole Prendeville, Speech and Language Therapist at the 22q11 Specialist Clinic, Great Ormond Street Hospital, sharing her knowledge and talked about the common speech and language issues affecting many 22q11 children. Many parents are finding it difficult to access local specialist support for speech and language therapy even though their Education and Health Care Plan has a provision included. We heard of one area who had notified parents all SALT services were being withdrawn. If you have any problems accessing services in your local area it would be useful to contact your Clinical Commissioning Group or even attend their AGM and raise questions about lack of services.
Dr Siske Struik from the All Wales 22q11 DS clinic talked about the frequent immune system issues linked to 22q11 DS and we heard from Dr Maria Rogdaki on psychiatric problems which can affect children and adults.

Max Appeal AGM and report of New-born Screening application progress.

Julie WJulie Wootton, Chair of Trustees updating delegates on progress of activities of Max Appeal during the last year.
Mandy SandersonMandy Sanderson, parent and NHS guru updating everyone on the New-born Screening application, made by Max Appeal in December 2018.

We built plenty of time into the day for parents to ask questions on the various subjects discussed and some parents shared their experiences. Sue Colley, talked about her daughter's educational journey and Martin Kennedy, Trustee shared his family's journey. Hopefully it will help those starting out on their 22q11 journeys to think about all the possibilities ahead.
Sue ColleySue Colley. Sue's daughter Rachel is just starting her Master's degree course. We all wish her luck with her continued studies and many congratulations on her successes to date.

Echo Study

Cardiff University ECHOCardiff University's Echo Study 22q11.2 research team were presenting their work at the conference. Dr Sam Chawner and his team discussed links between learning, thinking and psychological traits in 22q11.2 DS, as well as sleep disturbances and brain structure and function.
Sam concluded that researchers are starting to understand 22q11.2 DS better but there is still a lot that is not known. There is still a great lack of awareness of 22q11.2 DS amongst the public and clinicians and that families still often struggle to get recognition and optimal care for their child.
Dr Chris Eaton from Birmingham University discussed the results of a recent study on seizures / epilepsy in 22q11.
We also included a session on how to access advice and support when dealing with problems in education as many parents need to navigate their way through the systems to ensure their child has the appropriate support during their school years.
Martin kThe day was jam packed with informative talks and the sessions often overran as delegates had many questions to ask. Martin Kennedy managed to keep us all on track for finishing on time and hopefully everyone went home well informed and armed with useful information.

Claire Hennessey