Winter 2014 No. 77 Inside this issue Group News | Fundraising | Members’ Letters | One Family Living with Two Different Chromosome Disorders | Bristol Conference 2014 | Unique Leaflets | Christmas Card Order Form Sophie, Unique’s Chair of Trustees Dear Members, In the past month a few things have reminded me of why it is so important to make connections through Unique but also to draw support from other parents around us. I’ve just returned from Unique’s most recent family conference in Bristol where 150 of us parents and carers had a lovely time in workshops, meals and activities, chatting and watching our children milling around together like one big family since – although we had never met before – we have shared so many experiences in common. However in contrast I have also just met a new mum who has just moved to my area from far away with two toddlers, one with a rare joys of the internet, it is becoming easier to meet others with similar, chromosome disorder, who is starting from scratch with no even very rare, chromosome disorders around the world and to find professional, medical or social support. She reminds me of how yourself talking to them in the middle of the night about some lonely I felt when Max was newly diagnosed, when I knew no one interesting things our children share in common (obsession with with a disabled child let alone anyone with a rare chromosome catalogues, anyone?) And of course we also have an enormous disorder. Elsewhere our latest Unique Facebook group, Unique amount in common with so many parents of children with other Russia, is also just starting up – so far it includes just a small special needs or disabilities around us in our own communities who number of members sharing very different experiences to mine here will often be walking the same path as us. in the UK but I hope drawing comfort from each other. The search for information is key to what Unique does but I wonder if When repeated hospital visits, ongoing battles over our children’s in fact making contact with each other, building links and friendships schooling or the day-to-day eating/sleeping/toileting issues get us with people who understand, is actually even more so? down, it is easy to feel isolated but it is really important to remember that we are not actually alone and to reach out for support. Remember to keep looking out for other new Unique members in your region – as numbers of children being diagnosed with rare chromosome disorders grow we are less and less likely to be the only rare chromosome disorder family on the block. Thanks to the Sophie, mother of Max, dup 9p Beverly, Unique’s CEO Dear Friends At our recent conference in Bristol (pages 13-20) I was really struck with an ultra-rare chromosome disorder compared with her other by the large number of professionals who had willingly given up their son with the well-known Down Syndrome. We recently repeated our weekend to run workshops, 1:1 clinics and information stands as survey of UK families’ experiences of diagnosis and genetic well as helping out in the crèche. We have tried very hard over many counselling and were pleased to see that in the intervening 10 years years not only to gain the trust of professionals in the work we do to the percentage of families being told about Unique at that stage had help families affected by rare chromosome disorders but also to risen from about 30% to about 70%. However, what about the support professionals in their own work with families by providing remaining 30% who weren’t told about us and struggled to find us on information and representing the viewpoint of families. This strategy their own and the many more families who never find us and remain certainly seems to have paid off. We have a veritable army of isolated? So my plea to you is to continue to raise awareness at every professionals helping us and willing to give us the opportunity. Ask your professionals if one of the Unique team can benefit of their advice and expertise, among come and present to them about rare chromosome disorders and them frontline clinical geneticists and the work of Unique in one of their regular learning seminars, just as other healthcare professionals, I did recently to 25 trainee paediatricians here in Surrey. It’s up to educators, therapists and social each and every one of us to push for the very best information, workers, as well many working in services and help for our precious children. diagnostic and research labs. But Kindest regards there is still much work left to do raise awareness among professionals. For instance Mum Ana Marshall’s article on page 9 Beverly eloquently demonstrates how much harder it has been to secure Front cover: Some of our beautiful children at the Bristol conference services and recognition for her son www.rarechromo.org 2 GROUP NEWS Rare Chromosome Disorder Awareness Week 2015 Awareness week this year was more successful than we could possibly have imagined, so we are raring to go for next year’s event! Please mark off Sunday 7th June to Saturday 13th June 2015 in your diaries and start planning what you are going to do to raise awareness. We’ll post more details on the Unique website, on our many Facebook pages and in the next magazine as soon as we can. Do let us know what you are going to do. Unique raises awareness at the British Society of Genetic Medicine conference Unique Information Officer Cathryn Moss writes: Sarah and I visited Liverpool for a few days in September to man the Unique stand at the annual BSGM (British Society for Genetic Medicine) conference. It was great to see so many Unique supporters there, including some of my old colleagues from the Birmingham genetics team. We also went to some of the lectures and the great debate, making it a busy and interesting Robert Leech Estate Agents select Unique few days! as one of their chosen charities Located in Oxted where Unique is based, local estate agents Unique Practical Information Guides Robert Leech have recently chosen Unique as one of their Did you know that as well as our chromosome information charities to support. Robert Leech Estate Agents have three guides we also have practical information guides? offices in total, the other branches are in Lingfield and Reigate, • After Diagnosis – What next? covering Surrey, Sussex and Kent. Unique has been added to • Communication guide their list of charities for their clients to support. As part of their • Education guide (this was written before the new SEND support they will donate £100 for every instruction received, on reforms came into force) completion of sale or referral when Unique is mentioned. So, if • Feeding New! you, a friend, family member or colleague living in the Surrey, • Grants and funding guide Sussex and Kent area are looking to buy or sell a house, please • Holidays short breaks travel guide do visit the Robert Leech website www.robertleech.com and • Outdoor bikes leisure and sensory toys mention the Unique name. We are delighted Robert Leech Estate • Sleep Agents have added us to their list of supported charities and • Supporting Siblings of Children with a Rare Chromosome we’d like to take this opportunity to thank them. We look forward Disorder to working with you. • Teeth New! They are available to download from our website. Or you can obtain a copy from [email protected] (UK telephone number 01293 525504 ). Unique Sticky Notes In addition to our pin badges, wristbands and other merchandise, we now have Unique sticky notes for sale. Our handy block of approximately 100 sticky-notes features the Unique logo in colour and are great for the home or office to make sure you never forget anything again! To order yours today, please see the order form at the back of the magazine. We are very grateful to Unique Dad Ian Hill for arranging the printing of the sticky notes. Ian said: “It is a pleasure to be able to support you after the support I have been given by the team in the weeks since we registered since getting the diagnosis of Two members of staff from the Reigate office, Ben and Sarah duplication 15q took part in the ‘Nuts Challenge’ at Beare Green, Dorking on 31st on our son, August raising money for Unique. Despite Ben not feeling well, Matthew.” he soldiered on and completed two out of the three laps – what a trooper! A big thank you to you both. www.rarechromo.org 3 GROUP NEWS Booklets to help parents tell their child about a diagnosis of an extra sex chromosome When a child is diagnosed with a chromosome disorder, parents will want to know what the impact will be for the child and the family. Another question that will arise sooner or later is how to discuss the diagnosis with the child and with other people. If the disorder has obvious effects on development, then a diagnosis can be helpful in providing an explanation. Things are more complicated, though, for a condition such as a sex chromosome trisomy (47, XYY, 47, XXX also known as triple X or trisomy X, and 47,XXY, also known as Klinefelter's syndrome). Children with all three trisomies are at risk of educational difficulties, particularly those affecting language and communication, but the range of outcomes is very wide. Most children attend mainstream school and some will go on to university.