Those Who Managed to Attend Generally Expressed the Opinion That the Content Was Interesting

On Saturday 5th December 2015 a 22q parents conference was held in Cardiff University premises, organised by the 22q charity Max Appeal. Those who managed to attend generally expressed the opinion that the content was interesting and the opportunity to meet up was welcomed. In the interests of those who were not able to attend, I have attempted in the following paragraphs to summarise just some of my own impressions of what I learnt from the speakers and various attendees. Peter Scrambler, Professor of Molecular Medicine, started the day off by discussing what genetics reveal about the 22q11-related syndromes. Some of his presentation was a little too complex for me, but other parts were enthralling. He discussed and gave credence to the latest European study which reports an incidence level of 1 in less than 1,000 for 22q anomalies – much less ‘rare’ than previous figures on 1 in 1,800 or 1 in 4,000. He believes that 22q abnormalities are not rare, and are in fact more frequent than previously reported. There would seem to be as many incidences of 22q duplications as well as deletions. This may have arisen by the lack of accuracy in the FISH test [Fluorescence In Situ Hybridization) – partly I understood by the fact that a missing part of a gene is identifiable, but a duplication much less so. It would appear to be possible to have 22q deletions and duplications within the same human – spread between different DNA strings. This is different to the rarely- mentioned 22q translocations where the ‘detached’ piece of DNA re-attaches itself to a ‘wrong’ other part of the DNA string. Professor Scrambler concluded that it should be recognised that it is the parents and sufferers of 22q anomalies that are truly ‘rare’ – because they have had the privilege of knowing more about the problems. Mr David Drake, Consultant Cleft and Maxillofacial Surgeon, gave an overview of the Cardiff 22q11 Clinic. He proposed that 22q was significantly under-exposed, and as a result he was only able to run 3 or four clinics each year. Within his department, patient care was not funded and he was limited (by policy) to only treat cleft problems. At his 22q clinics he was able to refer patients to other consultants where deemed necessary, but he had no way or feedback as to whether those referrals were successful or even funded. Professor Marianne van den Bree of the Institute of Psychological Medicine and Clinical Neurosciences at Cardiff University reported on some early conclusions from the ECHO study that is ongoing. Just like no one family has 1.9 children, the ‘average’ does not exist for psychological issues for 22q-people. Even behavioural problems and IQ levels are variable across the 22q sufferers. For me this suggested that the ‘learning difficulties’ symptom of 22q could be related to either a low IQ, or hearing issues, or speech development delay – or indeed any combination of them – or something else. What I did find intriguing was a general low diagnosis level of ADHD amongst 22q sufferers. In my mind this was associated with ‘hyperactivity’ being strongly related to ADHD, but this apparently is distinctly less noticeable / common with 22q. Levels of inattentiveness amongst 22q’ers have been identified – and of course this is the Attention Deficit part of ADHD. One wonders whether the ‘average’ GP (or even parent) is ignoring this behavioural symptom. Professor Marianne emphasised that 22q’ers exhibit more anxiety disorders and more autism spectrum disorders – with the resultant risk of medium to severe psychological problems in later life that could not necessarily be related to low IQ levels. I was intrigued by her description of ‘predictive anxiety’, but have since failed to put a description of it into words for these paragraphs. If out of curiosity you elect to ‘google it’, then avoid all r=the references to rats! New studies are to be conducted into ‘motor skills’, ‘sleep patterns’ and seizures. Responding to a question, it was revealed that only Mr David Drake’s work was NHS-funded. The other two conference contributors were not fearful of budget cuts per se because they were privately or commercially funded. There remains a lack of service provision in the NHS. This was discussed (with no real possible solutions) by Doctor Debbie Sell and a research colleague of Great Ormond Street Hospital. A ‘Skype’ connection allowed a presentation from Dr Andy Gennery of the Great North Children’s Hospital at Newcastle. His ‘virtual’ clinics for 22q seem to operate differently to other areas of the UK – particularly in respect of the fact that their clinic administration monitors and coordinates the referrals to and work of the other specialists required for each 22q sufferer. I personally believe that this approach is far better than the ‘cop-out’ system we have experienced elsewhere where the patient’s GP is expected to make all the referrals and understand the reports and recommendations that are fed back. After lunch the level of my note-taking reduced, and in some respects it proved impossible to digest as well as identify specific highlights from multiple slide show presentations of statistics. A presentation by Michelle Hiseman concerning the need (at the stage of transition from school into adult life) for effective CV-writing was welcomed by many parents of 22q’ers. Of particular note was her recommendation that the basic initial CV should not even mention 22q or any disability – so as to avoid the common practice of ‘binning’ and not even replying to CVs that showed anything but the best ‘fit’ for the job being applied for. I attended one of the ‘workshops’ later in the afternoon where the attendees were invited to briefly describe their own experiences and problems with their 22q’ers. All of these were taken very seriously by the team of researchers present – even reducing one to tears. Overall and in summary, it was a pleasure to attend and learn from all the presentations. It is only right and proper to thank the organisers (Max Appeal), the funding (Genetic Disorders UK and their Jeans for Genes promotions), Cardiff University for the facilities, and especially the various experts who took the time not only to present their information but also the time taken to prepare for this event. Personally I look forward to: -  Evidence of actions by the All-Party Parliamentary Group (APPG) to further the cause of 22q sufferers;  The recognition within Max Appeal and other 22q organisations that, whilst diagnosis of 22q has been in its infancy and primarily associated with children, we should refer to 22q anomalies (so as to include duplications as well as deletions) and admit to ourselves and others that not enough is being done to achieve appropriate employment and social support;  Another conference as soon as funds permit, with PR and media involvement so that greater awareness is attained. Chris Ryan