Max Appeal Conference and AGM Birmingham 31st August, 2019
31st August 2019

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.

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.


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.

Echo Study

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.