Conference report

The venue was Alder Hey Children’s Hospital in Liverpool & the date was 30th November 2002 … it seems such a long time ago!!

Our audience was rightly enthusiastic about our guest speaker Donna McDonald McGinn, who is Director of Clinical Genetics at the Children’s Hospital of Philadelphia and the specialist “22qandYou” Centre which is at the forefront of knowledge and research.

Parents and professionals alike (a number of venerable doctors “popped in” throughout the day) were fascinated by her talk which covered an overview of the 22q11.2 deletion along with interesting new breakthroughs.

For example Philadelphia now routinely check for abnormalities of the vertebrae in the neck area as they feel that there is a sufficiently high percentage of people with a defect in this area for it to be added to their “tick list” of investigations that are carried out when an individual is diagnosed.

Also cross referencing between all of the departments in the hospital and increased genetic screening has revealed that the incidence of this chromosome deletion may in-fact be significantly higher than they has previously imagined and may well be almost as common as Down’s syndrome!

Donna was available to parents and professionals throughout the day and many people took the opportunity to speak with her about concerns and unanswered questions.

We are very grateful to Donna for her time and unstinting enthusiasm!

Alan Friar is a Consultant Clinical Geneticist at Alder Hey and stepped in to the breach at the last minute, for which are very grateful! His relaxed and informal talk covered aspects of the FISH test, what it can and can’t detect

Rob Johnston, Paediatric Cardiologist at Alder Hey gave an in-depth talk on heart defects and how they develop during pregnancy.

Alison Jeremy is a Speech and Language Therapist st Birmingham Children’s Hospital. Parents were interested to hear about VPI and the need for continuing speech therapy after palate surgery has been carried out.

Our last speaker, but certainly not least, was Dr Kumararatne. He is a Consultant Immunologist at Addenbrooke’s in Cambridge, where he is part of a team that runs a specialist multi-disciplinary clinic. His talk was of interest to many parents as immunology and particularly vaccine advice is one of the most common areas of enquiry that we receive.

Sharon Hunt (Max Appeal trustee and Heather Nicklin, a former specialist health visitor at Birmingham Children’s Hospital) gave individual benefits advice sessions and all delegate packs contained one of their highly informative and comprehensive guides to benefits and how to fill in those daunting DLA form!.. Phone for a free copy of the advice leaflet...

Alder Hey Children’s Hospital proved to be an excellent venue! The education centre was very well organised and the all important lunch was marvellous!

The raffle draw with it’s fab prizes, including DVD player (hope the Homden family are enjoying it!), proved very popular…. but hecklers calling “fix” will be ejected next year!

Parents all reported that they were very pleased with the crèche facilities which were split basically between the Rocking Horse Nursery and the Out Patients play area where nursery nurses and play specialists entertained them for the morning and afternoon sessions. The children helped here as they were wonderful!

Santa (Gill Williams’ Dad) made a ‘surprise’ visit and handed out presents to some very excited children! (We later found out that new Health and Safety Regulations only permit Santa to visit tidy bedrooms…. something to do with trip hazards?!!?… bear this in mind next year, kids!!)

Our special thanks go to Mary Murray, cardiac liaison sister, for all her help in organising the event and the arm twisting she did on our behalf! We would also like to thank all of our speakers for giving us a Saturday out of their own time and for the superb quality of their presentations which are extremely valuable to parents.