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. Many parents are concerned about whether or not to tell their child about the trisomy. Those parents who want to tell their child often feel unsure about how to go about doing this. With funding from the Nuffield Foundation, researchers at the University of Oxford have developed a set of booklets designed to help parents confronted with this issue. They focused on 47, XXX and 47, XYY because in For more information please contact: these conditions there is no good evidence Craig Mitchell – Chief Operating Officer Caroline Pocock – Fundraising Officer [email protected] [email protected] of any effect on sexual development or ability to have children. 01883 723306 01883 723306 The issues are more complex in Klinefelter's syndrome, where To donate, simply visit our website www.rarechromo.org or talk to any of the Unique team. there are effects on puberty and fertility. The booklets were designed after surveying parents to find out more about factors discusses the pros and affecting a decision to disclose a diagnosis, and ways in which cons of disclosing the parents had gone about this. The researchers also asked for the diagnosis. The aim is to views of young people who had 47, XXX or 47, XYY who knew give parents information about their diagnosis. The goal was to produce, for each that will help them condition, two booklets. The first one is for parents, and balance different factors in coming to a decision. For instance, many parents were concerned that if they disclosed the diagnosis, then this could lead to the child being stigmatised. On the other hand, the child might be relieved to have a diagnosis, particularly if it provided an explanation for developmental difficulties. To help those parents who decide to disclose the diagnosis, the researchers developed a picture book for each condition. This is suitable for children with a developmental level of around 6 to 10 years. It does not explain complex genetics, but focuses more on the idea that having an extra chromosome is just one way in which people can be different from one another. It is hoped that if parents start this conversation with the child when they are fairly young, they can then allow understanding to develop more gradually as their ability increases with age. Printed copies of these booklets are available from Unique (please email Sarah Wynn, [email protected] ), and booklets can also be downloaded from the Unique website (www.rarechromo.org) .

Found at Unique conference Bristol! Nintendo DS game inside a name badge (name card removed). If one of your children has lost this item, please contact [email protected] or 01293 525504 to tell her which game it is and she will post it to you.

www.rarechromo.org 4 FUNDRAISING A huge thank you to everyone who has been fundraising for Unique over the total of more than £4,500 was raised – a fantastic effort. summer… we are amazed and inspired by every single one of you. With Huge thanks to you all. limited space, we’ve tried to mention as many of you as possible here and hope that some of our other members and supporters will be spurred on by your brilliant efforts. Running events are a great Among other runners t-shirt and top left) ran the way to fundraise for us and in completing half marathons Aviemore half marathon with September one of the Big and 10ks included Anthony some friends (also pictured). events of the year, the Great Coleman who ran the Torbay Laura said it “was a great first North Run took place. We had Half Marathon (a particularly half marathon to do and great David, Mike, Duncan and Andrew 10 runners this year so well hilly one!) and Robert weather too for a fantastic Elsewhere, Coralee Potter , done to Katie Richardson, Fairclough who ran the cause!” mum to Daisy-Olivia organised Christine and Justin Mills, Hackney Half Marathon. We also had a number of a children’s fun day at Ashurst Catherine Wrench, Marg Lee Calvert ran the British athletes at the more extreme Pre-School in Hampshire and Smith, Andrew Whitehead, 10k London Run, Maggie end of the scale. Ian Robinson also organised the "Tour De Lowri Hughes, Justine Schaap-Smith the completed a ‘Unique Triathlon’ Ashurst Pre-School" event, a Burnett, Beth Roberts and Maidenhead Half Marathon in St Neots in August and was tricycle assault course which Clair Barwick, some of whom and Hayley Hampson and very pleased to lose 2 stone in Daisy-Olivia and her friends are pictured after the run… Greg Pitcher both ran the the process! Helen Cressey took part in. Caroline Robin Hood Half Marathon. did the Cotswold Triathlon, Hamilton in Jersey did some Sarah Miles ran the Cardiff Mark Nicol took part in the fundraising at her daughter’s Half Marathon as did a team Lanzarote Ironman 70.3 nursery too and gave a Unique of researchers from the ECHO Triathlon and Dave Ellis did balloon to each child with a Study at Cardiff University the Ironman Wales 2014. Dave flyer for parents about who are studying rare Copy even managed to feature in his donating. Little Acorns Day Number Variants (ie local paper the Leicester Nursery in Meltham, Yorks deletions/duplications of Mercury which was great also donated the proceeds of a genetic material), and wanted awareness raising (pictured). fundraising day they held. to support Unique having seen first-hand the effect that these can have on individuals and their families. Lowri Hughes

David Lyle and some friends Kirsty and Dan Scott Justine (Mike Johnson, Duncan organised a fun day at a local Burnett Sarah and Jon Willcocks and Andrew Birt – community hall in Scotland Further North, Chris Kelly and supported by Tim and Patrick and Brenda Barlow organised some colleagues, Police Smith ) took part in the Welsh a craft and bric a brac table Officers in Cheshire, ran the 3000, which involves climbing top sale, with raffle and Warrington Half Marathon and to the top of all 15 of the tombola at her church hall in Darren Stewart ran the mountains over 3000ft in Yokshire. John Merrifield also Kielder Half Marathon. Wales within 24 hours, without raised funds taking part in Andrew Whitehead Laura Russell and partner using any form of transport. Dragon Boat races. Andrew (bottom left in Unique 38 miles – 13,000ft of vertical Cindy Lockyer and daughter ascent/decent – 21 hours and Kaela organised a fundraising 50 minutes non-stop! The guys were going to do this just for fun but when the child of a friend of David’s was diagnosed with a rare chromosome disorder they decided to support Unique. David’s employer JLT matched e and Marg ine, Catherin their fundraising and a grand Justin, Christ www.rarechromo.org 5 disco with raffle and had a ‘Around the World in a Day great night in the process Our Unique Umbrellas fundraising. Samantha Hill , mum to Hollie, is HR Manager while supporting Unique. In 2007 when one of my daughters got married we bought 3 at the hotel and together with Cindy (in red) and Kaela are white umbrellas to use on her wedding day if it rained. It pictured with Cindy’s other was the hottest day in August so they weren’t needed! colleagues Amir , Adem and daughter Maisie. others have given us brilliant Since then I have lent these umbrellas out to many friends support. Sam’s planning more Along similar lines, Juliette and family who have been going to a wedding and the fundraising in the next 6 Lobley from Suffolk also wonderful thing is that they haven’t been needed at any months so watch this space! organised a fundraising disco wedding so far… so they really do keep the rain away! They for children aged 8 and under go to weddings complete with ribbons around their handles at a local community centre. to complement the colour scheme of the day. In Nottingham, Rastarella Earlier this year, when the bookings for the umbrellas Falade (mum to Abisola), seemed to be every month I had the idea to ask for a organised ‘Cultural Vibrations’ donation to Unique each time I lent them out. I wanted to a night of live music to raise do some fundraising and thought of the umbrellas. It’s funds. easier than doing a sponsored walk or run! People have been happy to donate some money for such a good cause. Craig and Caroline from Unique with Samantha, Adem and Amir The reason for choosing Unique to raise money for is my lovely grandson Henry Grover. He appeared in the spring Mairi Leitch has been edition of the Unique magazine 2014 when his mum, particularly busy, fundraising Hannah, my daughter, wrote an article about their journey by doing a sponsored walk around Millport with her Cultural Vibrations in Full Swing! with Henry both before and after his diagnosis of 9p24 deletion. She values the help Unique gives families like family and friends and also Several of you have been hers, coming to terms with a condition that not much is selling wristbands and other getting on your bikes for known about and feels supported coming in contact with merchandise on our behalf. On Unique: Chris Rymarz and other parents. So if you live near postcode CB8 8RF and a different strand altogether, Ben East road the ‘Norfolk need 3 white umbrellas to keep the rain away… for a by complete coincidence, Sportive’, 100 miles through donation to Unique I will put ribbons around them for the several of you have ‘had the Norfolk in a day. Chris even day and hopefully their magic will continue to work, chop’ (quite literally) designed his own truly keeping the rain away and Unique will benefit! recently… cutting off of your ‘unique’ cycling jersey dreadlocks to raise funds! Sue Gould (pictured). Nice and bright so Erica Fontaine even posted a October 2014 you couldn’t miss him! video on Youtube, called ‘My PS: After I wrote this they were used properly to shelter a Cut’ and nominated her bride and her bridesmaids from a very wet arrival at the friends to do the same. Katy church! Scrivener called her event ‘The Dreadlock Challenge’ holding it in her local pub, the Caroline Scott also held a not only good for raising funds Black Lion in Leighton coffee morning and cake but great for spreading Buzzard. She said she wanted awareness too. Leanne sale – great for awareness to do something different for raising, fundraising and Boardman and colleagues at charity and give her friends a having a good time… some of Belle Vale BC had a charity Colleen Thomas , mum to good laugh at the same time! the cakes also found their way week and over 5 days held Lola, who has Kleefstra to the Unique office… various events including cake Syndrome, also cycled for us, delicious! Sarah Campbell did and sandwich sales and a riding 60 miles from the same, holding a cake sale ‘Fashion & Fizz’ where they Manchester to Blackpool in and awareness morning at her sold various clothing. Laine July and Tim Hyde uncle to daughter’s nursery, as did Caulfield and colleagues on Natalie who has a rare Steph Masters , mum to Elliott the Social Services team in, chromosome disorder took part in Vodafone's Big Bold in Surrey, holding a cake sale Wishaw, Scotland, held a Challenge – cycling 70 miles at work. Also on the food dress-down day. Gary from Vodafone's World theme, Rachel Maile held a Wilkinson and some Headquarters in Newbury, pampered chef party and colleagues from Subsea 7 in Berkshire, to Queen Elizabeth kindly donated some of the Aberdeen, entered the Fitnut II Olympic Park, East London. proceeds. Unique Trustee 2014 charity challenge. Gary Isobel Hindle held a summer was the ‘most improved’ and Dee Weiner also raised funds Katy getting the chop! BBQ at her home, with lots of donated the proceeds to for us whilst on holiday at Further afield, in Sydney, Dance camp Wales. She sang people braving the great Unique. Thanks Gary! Australia, Rebecca Monk , a solo In front of 150 people British summer weather and We were also thrilled to once whose daughter Brigitte has a and sold loom bands and the rain just about holding off! again be chosen by the team rare chromosome disorder, cakes in the market they held. Some of you have also been at the London Hilton on Park organised some fundraising Well done Dee and thank you! fundraising at work, which is Lane to benefit from their through Briggite’s school. www.rarechromo.org 6 FUNDRAISING health professionals who are involved with Mia. I wanted to run the GNR to show my gratitude to Unique and raise some money to help them continue the fantastic work that they do. Fantastic effort Katie! Thank you.

Lisa James ran the Bristol Half Marathon There were four of us to start out with but three backed out 3–4 weeks before the race started. I managed it with a blister from hell well – it was small to start with but I used a blister plaster which I was allergic to and which caused a reaction. So I walked most of my Just Giving page can help WHATEVER YOU DO, MAKE IT UNIQUE. the race, finishing in 3 hours in some way. While I was 20 minutes. So it was just me, walking /running I did see then one of my running someone else wearing a friends joined me at the last Unique T-shirt, so fingers minute. crossed they raised some I hope the sponsorship from money as well!

Vaucluse Public School. The Katie Richardson and school held a dress-down day with everyone wearing Jeans. The Great North Run In Lake Forest, Illinois, USA, When I received Mia's Monica Kaminksi , mum to diagnosis in November 2013 Colin, did the same, saying (4p dup and 5q35.3 del), it that her family had been so wasn't a huge shock, as we grateful for the information knew something wasn't right. received from Unique, they felt I felt relieved that we it was time to give something eventually had an explanation back! for her problems and delays – but the relief quickly passed Kate Burton (a relative of Unique’s Chair of Trustees when I came to the realisation Justine Burnett and the Great North Run Sophie Sainty ) recently that there was very little the Just wanted to let you know that I managed to complete the celebrated a special birthday doctors could tell us about it. I Great North Run in a time of 2 hours 45 minutes. It was the and instead of receiving went home that evening and most fantastic, tiring and very emotional day and I presents, kindly asked for decided that I would do some managed to raise the grand total of £615.40 for Unique. I donations instead. Dina Levy research. That is when I found have attached a couple of pictures from the day that I also celebrated a similar Unique. thought you may like to see and put in the next edition of milestone birthday and I didn't know what to expect – the magazine. I burst into tears crossing the finish line donations were likewise made but when the welcome pack after a strenuous but brilliant run with so much support to Unique. We were also came through the door and I from fellow runners and supporters and of course huge touched to receive donations saw there were other families support from my husband and in celebration of the lives of going through the same thing two boys, Alex and Cameron the late David Finnigan and around the world, I no longer not only on the day but in the Angus Robertson and thank felt alone; but more than that, months leading up to the run. their families for these. I felt a sense of belonging. I am still in the process of collecting money donated Remember, if you’d like to Unique have enabled me to offline and will donate as fundraise for Unique, drop us network with other parents soon as I have it all together. a line. Just call Craig or who have children with the Roll on next year! Caroline on 01883 723306 or same chromosome disorders email [email protected] as Mia, which has not only Brilliant effort Justine! or [email protected] helped my husband and me, Thank you so much. today! but has greatly helped the www.rarechromo.org 7 FEATURE FUNDRAISERS! The Katechia Family Mum Priya and Dad Rajen wrote this moving piece when encouraging friends, family and acquaintances to help them raise funds for Unique. They raised just over £4k in August doing a 20 mile sponsored walk which Priya herself organised. Thank you to you and your family for being such wonderful fundraisers!

Two weeks after Reece was born we were sitting in a small infections, sensory issues, dysphagia. And the list goes on. One of the consultation room in hospital thinking it is a general check up… we hardest things for a mum was that Reece did not like being held, he were unexpectedly shocked to be told that our baby boy has a rare has sensory issues and would withdraw when he was picked up or chromosome disorder where some genes in his 4th chromosome are hugged. The constant hugs and kisses first time parents dream of absent. It was devastating to hear those words, our tears froze, the were put on hold and bonding with Reece was proving to be a room suddenly turned black and from that moment we felt we were challenge. grieving for our son as waves of emotions filled our gut. My first Reece turned 2 in June this year, and with great determination he question nervously was ‘What's my son's survival rate?' With very has come on in leaps and bounds. He is now fully commando little information available and provided on the disorder, we walked crawling and even attempting to cruise. The moment he started out with a few leaflets with the unknown future of our precious baby. commando crawling his sensory issues became less apparent, Within the first month Reece was admitted to becoming tactile and attentive and even now hospital on a number of occasions with loves a squeezy cuddle. We have learnt to be constant choking episodes and severe patient as everything will happen maybe not feeding difficulties, on one occasion we today or tomorrow but definitely by Reece's faced a life threatening stage where our clock and it's all worth waiting for. He newborn baby was gasping for air and our continues to have physiotherapy, speech and world came crashing down as we thought language, communication classes, we were losing him to the angels. The development assessments and with every pediatrician diagnosed him with reflux session he is improving that little bit more. He which we questioned for months as we has to work much harder than a typical child knew there was something more to it than just but he continues to grow from strength to gastro reflux. strength. In addition, we are also With constant battles to get an appointment to see a supplementing his learning by teaching him specialist, we finally managed to have a swallow Makaton sign language to help him study carried out which identified Reece having a communicate. hole in his voicebox causing him to aspirate during Despite the exhaustive list of symptoms, he is his feeds hence the failure to thrive and numerous the most loving and adorable child, very choking episodes. To avoid any further damage to handsome and always so smiley. It makes his lungs, very soon after the diagnosis he had our heart melt watching him grow every surgery to close the hole. As soon as our day. No matter what life has thrown at pediatrician said our son had an inguinal hernia him he is always smiling. Reece is a very at birth we immediately knew Reece will have to affectionate little boy to his close ones have surgery, however we were shocked when and a social butterfly with a huge shining they said it will be at the age of 3 months due to personality. He is tremendously gifted the size of it. The thought of our newborn being and has shown us the real meaning of under the knife at such early stages of his life love and strength. We will do anything was just terrifying. He cried continuously day and everything to ensure that he and night for weeks; the professionals advised experiences everything life has to offer and will always make sure he us the hernia was not causing him any pain so we were led to believe knows how much he is loved. We thank god for blessing us with a he was just a crying baby. After being given a one hour surgery time very special child. If Reece didn't have a missing chromosome, he we started to panic fearfully and were terrified waiting outside the wouldn't be Reece, bringing us all the joy he does every single day. operating theatre as it was approaching two hours. After surgery was And it is thanks to 'Unique' who got us through the first 6 months of complete they gave our son to us and explained how his bowels Reece's life. They helped us to get in touch with other parents who moved into his hernia which made the surgery more of a challenge have children with similar conditions to Reece… at last families who and by far was one of the most difficult and largest hernia surgeries understood our fears and gave sincere and reliable advice. People he had to operate on. Amazingly Reece had a speedy recovery and the who supported us and did not judge, there is no comparison with our crying had reduced dramatically. Sadly he was showing signs of children and you’re always made to feel every development is worth discomfort that got dismissed by us and the professionals. celebrating. Our 'Unique' family have been there to share all the good Reece showed more symptoms of his disorder as time went on, with times and bad and for that I will always be ever so grateful. My family most of his first year spent in and out of hospital. As a family we went and I would like to ask for your support to raise much needed funds from denial at first to then getting more and more confused at every for "Unique" the charity organisation in support of families who are appointment and at every professional diagnosis. It seemed as if affected by this rare disorder. With your generous support, vital funds Reece had more and more 'unique' little quirks. We started to dread will be used to help with providing specialist information and support going to his appointments as they would tell us something else is to families coming to terms with a diagnosis and the medical wrong. To date, he has been diagnosed with the following: low muscle professionals caring for them. tone, hernia, feeding difficulties, gastro reflux, laryngeal cleft, ASD Finally we would love to share a poem that has touched our hearts heart murmur, low immune system, poor growth, speech delay, and relates to our experience in raising a child with a disability: global development delay, glue ear, repeat tonsillitis, prone to chest www.our-kids.org/Archives/Holland.html .

www.rarechromo.org 8 One Family Living with Two Different Chromosome Disorders In this very insightful article, Ana Marshall, one of Unique’s Mums, describes the huge difference between raising a son with Down Syndrome, with its clear protocol of recommended regular tests and treatments, and the uncertainty of raising a second son who has an ultra-rare chromosome disorder for which there is little information and no set care management pathway. When we found out that our right now. Teo’s and Tommy’s third child had Down conditions are independent Syndrome, our world and each is random. collapsed – briefly, but As one doctor told us we just painfully. However, very had very bad luck – the quickly and before we probability of one family realised it, we entered into a having both these conditions community of families and is rare. It’s true we sometimes professionals who have now look around and ask ourselves been guiding us for the last in a clichéd way: “How come? two and a half years. Why us?”. Then it passes, and In the first months of Tommy’s we look at what great and life we already had an idea of beautiful children we have and what stimulation he would rejoice that we wouldn’t need, what illnesses we had to change them for anything in watch out for and what the world. Our geneticist schools were available for recommended we got in touch him. Most importantly, we with Unique. This apparently deluge of doctors’ to have a similar deletion to were reassured that he would simple but essential appointments, pilgrimages to Teo’s one. We’ve been able to “get there” like any other suggestion has been of great numerous hospitals, accept and move on with child, just at a slower pace. We help. It’s the first step towards professionals, early attention Tommy’s condition relatively live in Madrid, where the feeling part of a community, centres, etc. Five years of easily, yet we are far from support and integration for learning about rare contradictory medical reports, getting to terms with Teo’s. We people with Down Syndrome is chromosome disorders and battles with administrative have no information on what second to none. Medically, sharing knowledge and and school procedures. impact Teo’s disorder will be there is a clear protocol of experiences. From the little Teachers said “something’s in the future. We know the regular tests and treatments we’ve seen so far, wrong”. Doctors said “we symptoms he currently has that are recommended. In the organisations like Unique are don’t think so”. We, as and are working on them, but future, should we still live the way to bridge the gap parents, knew all along that there is nothing like a medical here, we know he will have protocol or a developmental or between those different options to maybe study, live something was wrong, but experiences, and to get a little couldn’t put a name to it and stimulation plan to help us independently or at least be navigate the uncertainty of the bit closer to an insightful included in a community who had no choice than having future for our child. With the faith that one day these future. We don’t even know if knows what Down Syndrome he will be able to continue in help of volunteers and all our journeys to see specialists is, and is ready to integrate his current school, or what contributions, we might be would give us some answers. him. We are guided with our schooling system would be able to make some of these eyes closed, and we now really When we finally, by accident, good for him. Most essential steps easier for all embrace the saying that is got directed to a geneticist, importantly, we don’t know parents and children with rare common amongst parents and we got the results, it how to explain to people what chromosome disorders: early with Down Syndrome’s suddenly struck us how he has. Down Syndrome has a diagnosis, clearer medical children: “The day you find out different the experience of “name, surname and known protocols, social integration that you child has got Down families with genetic disorders identity”. Rare chromosome and psychological support. We Syndrome, you are very, very could be. Down syndrome is disorders are difficult to are very new to this world, but sad. After that day, you are the most frequently occurring understand for parents, let look forward to learning from never sad again”. chromosomal disorder in the alone to explain to others. Our you all about your experiences This summer, our second son, world – in the US it occurs in friends and colleagues ask us and sharing ours. Teo, five, was diagnosed with a one in every 700 live births, about Tomas, but we are If you live in Madrid and would rare chromosome disorder, a and in the UK in every 850 live worried about Teo – like to get in touch, please 17q21.1q21.2 deletion. His births. On the other extreme, uncertainty, we find, is the contact us through Unique – short life has been filled with a there is no other child known most difficult thing to live with [email protected] . www.rarechromo.org 9 although sometimes there are have picked up eg ear wax is a provide a hospital passport so still night issues but nowhere common problem I have that everyone is aware of your near as bad as they were and picked up so I always check LDA needs. There are also now because of her medication for my patients’ ears annually. The nurse specialists in hospital her kidney transplant the idea behind these health who will support learning doctors do not want to give her checks is to pick up health disabled adults to get the right extra medication. Claire now problems early and provide the care when attending for scans lives near the beach 3 miles relevant treatment. Learning and X-rays. from us. We see her often and disabled adults are less likely I am sure I have not covered last week she finally started at to complain of pain and less everything with this short a new centre just one day a likely to attend the doctors. article but want to make week. They are more likely to have people aware that these yearly Claire will soon be 34 years old congenital abnormalities. They checks are out there. On my and I am pleased to say her also can age earlier and are part I am happy we have anxiety is improving. more likely to get dementia, improved our relationships constipation, epilepsy, sleep Our son Barry is now 32 years with our learning disabled disorders, communication old and continues to live with adults in Tangmere and their Duplication 2q12q21 problems, poor sight and/or his girlfriend through Shared carers, supported them with Inserted into 11q22.2 hearing and oral health among Lives. His nasal problems still blood tests and provided a Claire Dyckes: aged 34 years many other things. There is a cause him to breathe heavily named person that they can Barry Dyckes: aged 32 years very good website called and he is now on medication always call. www.easyhealth.com which I Joanna Dyckes, for hypertension and a recent use to provide advice to more Arun Area Local Contact blood test and scan picked up Duplication 3q24q29 able adults for breast E: [email protected] a fatty liver. Barry enjoys life to awareness, healthy eating, Mosacism Earlier this year I did a the full, playing footie, golf and smoking cessation and Evie Elliott: aged 13 months sponsored swim for Unique for walking. He still works at the contraception, etc. Leanne and Sam Elliott, and the rare chromosome British Heart Foundation shop, Evie’s big brother Brandon 9 awareness week at my gym, enjoys his housework and a The less able are very years LivingWell at Avisford Park. I full social life. He is going on dependent on their carers but swam over 70 lengths raising holiday next week to the New are still entitled to health Evie was born by emergency money for Unique but sadly Forest with his friends. checks which are tailored to Caesarean weighing a healthy their needs. If your child needs 7lb 14ozs. She had no there are no photos as there is Both Claire and Barry are to go to hospital we can also problems that we were aware a no photo rule there. I also excited that their sister is lost some pounds in weight getting married soon. Barry is which was an extra bonus! an usher but Claire did not Claire, our daughter, want to be a bridesmaid. We need your letters for the next developed some anxiety Photos to follow! Generally edition of the magazine! symptoms over Christmas – things are going fine. I believe Come on everyone – please do get writing about your refusing to go to her day Claire’s problems are caused children or yourselves for the magazine! We love to receive centres and waking us up for by fear caused by her letters and photos from any families within the group. If hours on end at night shouting grandparents ageing – they you would like to include a piece in the next edition of the and screaming because she are in their 90’s and Nanny has magazine, please send your article to Beverly by 31st thought her carers were in her dementia. This has been very January 2015 . If at all possible, please send your article by room and would hurt her. She hard for her to accept as email ( [email protected] or [email protected] ), also started telling tales which Nanny does not make sense preferably as a Word document attachment; this is by far were hurtful about her carers anymore. It has been very the easiest way for us and saves us a lot of work typing up and family including Martin difficult for her but Barry your letter. However, if this is not possible, please send and myself. hasn’t even noticed. your article by post (Unique Magazine, G1 The Stables, Claire has since seen a Health action plans Station Road West, Oxted, Surrey, RH8 9EE, England) . psychologist (but this took 4 As many of you know I am a Please make sure you make it clear that the article is to be months to arrange by which practice nurse working at published in the magazine by writing “FOR THE time we were exhausted as we Tangmere. For the last 2 years MAGAZINE” across the top of the article. Please send both work). Anxiety has been we have been providing health photos by email, preferably as a jpg file attachment. diagnosed but we are querying action plans and annual Otherwise, you can send photos by post but please write the cause and we are still reviews for learning disabled your own name and address and your child’s name on the waiting for time to talk adults to ensure they are back of the photo and state whether you want the photos arranged through the getting the right medical care. returned to you. Once I have received your article I will community team. I am well aware that some send you a magazine permission form to complete, sign Claire decided she would like surgeries are not doing them and return to me; I can’t include your article or photos to move away from home but they are important and we without receiving this form. Many thanks! again and in April she moved have been able to refer Beverly Searle in with a family through shared patients to the right place for Unique’s CEO lives. Claire’s move went well any medical needs that we www.rarechromo.org 10 There is an inherent problem with a group 2 seat (for children over 15kg or approximately 4 years old). Children have moved from the support offered by the 5 point harnessed seats to one strap across the chest and lap. When they fall asleep they can fall forward out of the seat. The shoulder strap slowly releases and the child is left in a dangerous (see crash test data) and uncomfortable position. of until the doctors performed is a very rare chromosome routine checks 24 hours later. disorder and not much is Invented by a parent, belt upp overcomes this problem. The They noticed that she had a known about this. We are device can be fitted and removed completely, in seconds. few physical markings that currently awaiting results of For more information and a video visit could be linked to Down an MRI brain scan. The www.beltupp.com/child-safety-seat/ . Call 01455 293047 Syndrome but said facially she doctors are always surprised or email us at [email protected] . didn’t appear to have this. She when they see Evie as on is small in stature, she has a paper she sounds like she single palmar crease to each should look different to what Deletion 5q11.2q13 also attends a resource for people with learning hand, sandal toe gap’s on each she does. Diane Ogden: aged 38 years difficulties and her favourite foot and the fifth digit’s on her Evie is such a joy to be around. Mum Hazel Adams writes: I day is when she goes out with hands and feet are curvy, her She lights up the room and thought I’d update you about her carer, buys the ingredients thumbs are proximately can cheer anyone up with her our daughter Diane Ogden. and cooks her own dinner. We placed, a slightly larger head cheeky smile. She amazes us Three years ago I had a stroke collect her every Saturday and then average, an asymmetrical all as despite her difficult start so I had to make the difficult take her out; she particularly face due to Torticollis, wide in life she is such a happy decision for her to go into full enjoys animal farms and eyebrows, low set ears and a giggly little girl. She can sit time care. It was garden centres and is always stork mark on her forehead, unaided and as of the last heartbreaking at the time but smiling and happy and her she is also lactose intolerant month can roll around the we were very fortunate to find general health is very good. and has problems with her floor. Evie’s little character a lovely place three miles from bowel movements. They also always shines through and can The future was always a big where we live. It’s a wonderful noticed that she has a heart melt anyone’s heart in an concern for us so it’s such a home with three other ladies condition, after having her instant. We are very hopeful relief to know she is well cared with similar abilities and full heart checked and being for Evie’s future. Having this for. The photo is of Diane on time carers. She goes bowling, referred to cardiologists we diagnosis hasn’t changed the left with her younger sister swimming and out to a disco were sent home as they anything for us as a family she Carol clinking wine glasses seemed certain there wasn’t is still our special little every Monday night and is after Christmas dinner at her anything wrong with Evie. princess and we feel very much more independent. She brother’s house. Evie’s health visitor wasn’t privileged to have her in our happy that no blood tests had lives. been done on Evie as when We have had some great there are a cluster of little support from UNIQUE who problems a blood test is were able to give us more usually done so referred her to information and also put us in our Paediatrician who sent touch with families local to us Evie for a blood test. The which has been amazing to results came back that Evie speak to someone who had duplication 3q24q29. They understands what we are asked us both to have a test to going through. see if either of us were carriers which we have just On Saturday 7th June 2014 we found out neither of us carry it. held a charity carwash in aid Evie had a further blood test of Evie. Lots of our family and which revealed that she has a friends got involved and our Mosaic form of duplication local paper turned up too. We 3q24q29 and her genetic all had a fantastic day and specialists aren’t too certain raised £1050 on the day plus about what Evie’s future holds £280 on Evie’s justgiving page. for her in terms of My husband’s works are also development or problems she donating £200 all to UNIQUE. may encounter as they said it Thank you UNIQUE xx www.rarechromo.org 11 addressed it with Health week whilst waiting for the profession knew any Visitors, they just said “He’ll results to come back. information or could tell us get there in his own time” or Less than a week later, I what the future was going to “He’s a typical lazy boy”. But I received a call from the look like for Harry. They said it just knew it was more than paediatrician that I’ll never was so rare, there were very that. forget. I couldn’t process the few reported cases of a Harry crawled at 15 months information – chromosome duplication on Chromosome and at 18 months we were duplication, large area, too 16 and none with his exact seen by the occupational many messages to the brain – karyotype so we would have to therapy team who said they I remember feeling so scared wait and see how he developed. Getting in touch saw no reason why Harry and frightened. At this point I with Unique opened up a wouldn’t be able to walk. I kept was seven months pregnant whole world of people who pushing to be seen by a and we were told that we were also ‘waiting to see’ but paediatrician as I was so sure needed to find out if it had came with stories, there was something wrong. come from us and what it experiences, support and By now, all his friends were meant for our unborn child. complete understanding of walking and talking and Harry After an anxious three weeks, what it was like to have a child was commando crawling, and we found out that Harry’s with a chromosome disorder. Duplication 16q12.2q21 only making a few sounds. We condition was ‘de novo’ – it Harry Rose: aged 4 years were finally seen when Harry originated in Harry and the Today, Harry (who will be five Janie Rose, Unique’s South was 21 months old. We had chances of our little girl having in January) is just the most Suffolk Local Contact only been in the room for a it were extremely small. It amazing little boy who E: [email protected] couple of minutes when she didn’t stop me worrying continues to amaze and surprise us every day. He has “Mrs Rose, there’s something told me her thoughts. I was so though. global developmental delay, seriously wrong with your relieved that she could see We decided to get her cord child”. Not the words that any what so many others hadn’t. tested at birth as I didn’t want learning difficulties, communication disorder, mother wants to hear, but I At this point I was six months to be constantly worrying or limited understanding, low can honestly say, at that pregnant with Harry’s sister, comparing them to each other, concentration, and low muscle moment, I felt relieved! Finally, Amelia. The paediatrician said and found out a week later tone. He walked at 22 months someone could see what I she was going to request a that she didn’t have the same and you can often find him could see. blood test for Harry to test his condition. Looking back, I running and jumping most Harry was born on his due chromosomes, Fragile X and a didn’t really need the test. places! He loves looking at date. The pregnancy wasn’t microarray and rush it through From the second she was books, swimming, bubbles and easy, but there were no as I was expecting a baby. born, I could tell she was bouncy castles… and certainly medical complications and Harry had the tests a week completely different to Harry. knows his way round an iPad! every scan showed a perfectly later and we were seen at Finding Unique was a real He’s very calm and placid by growing baby. Labour was long Addenbrookes the following lifeline. No one in the medical nature and is the still the and distressing (and with a happiest boy, always full of whole host of unrelated smiles! problems afterwards!) but Families WANTED This September, he started when Harry was born at Does your child have a unique genetic condition? Is your school and is on a dual 11.51am, he was so absolutely child undergoing genetic testing? Are you interested in placement at a mainstream perfect. The routine check helping to tell the wider public about your journey through school three days a week with showed that he had a heart trying to get a diagnosis, and your life with a unique child. full time 1-2-1 support and a murmur, but other than that, If so we are looking for you! he appeared just fine. special needs school twice a Number Nine Photography in association with the Clinical week. This balance helps give Harry was the best baby. He Ethics and Law research group at Southampton University him the best of both worlds would sleep and feed well will be producing a photographic exhibition exploring during the day and feed and and I can honestly say he is families’ journeys and experiences both when trying to get doing so well. Harry can now sleep regularly through the a diagnosis and when the diagnosis is unique. night. He never cried, was say about 20 words (I’m still We are currently looking for families to spend time with always happy and content, and waiting for ‘mummy’, but our photographer allowing her to photographically would smile and giggle his way we’re working on it!) and can document their life with genetic conditions and associated through the day. He sat up by use PECS and some Makaton testing. himself at five months and to communicate. Both schools seemed to be meeting all his For further information on this project please have been amazing and are milestones. It was when all his contact our photographer, Sarah Smith at working together to provide little friends were crawling and [email protected] and 07818 413505 or the best education for Harry. some on their way to walking visit www.numberninephotography.co.uk . Amelia is two and a half now at around nine months, I first For information on Southampton University’s and it’s hard to see her so knew something wasn’t right. current research projects please visit much more advanced than her He didn’t seem to do what www.southampton.ac.uk/cels/research_projects /. brother, but when I see them other babies did. When I play together and how much www.rarechromo.org 12 CONFERENCE Unique’s Bristol Conference October 2014 Around 150 parents and grandparents from all over the south of England and Wales converged on Bristol from 3rd –5th October 2014 for Unique’s 15th weekend conference, generously supported by Jeans for Genes.

From those with fresh Laboratory, the conference diagnoses to old hands, now opened with a welcome by independent adults, they Unique’s chief executive came together to find others officer Dr Beverly Searle. In like themselves, to discover her welcome pack letter, that they are not alone, and to Beverly had told families that share the experience of living Unique now has more than with a rare chromosome 11,700 families in 99 countries disorder. Families enjoyed worldwide, representing well workshops on the things that over 15,000 people with a rare matter most to them – chromosome disorder. behaviour, communication, More than 1250 new education, and much more - families joined in run by a line-up of experts, 2013 –14, with 150 new ringing her bell at study group, as well as the each one a leader in their families currently joining the end of each newly-launched Cambridge- field. each month, making workshop! You can and London-based Imagine ID Together, families and the Unique a global force to be read more about these research project, dozens of professionals who reckoned with. After her sessions below. Throughout joined us for the weekend welcome Beverly invited the day geneticists from the celebrated Unique’s 30th families to break the ice and Bristol Genetics Laboratory, birthday in most of the usual talk to their neighbours, and who also helped in the crèche, manners before dancing the not surprisingly they talked showed families how they find remains of the day and part of and talked. Everyone had the chromosome disorders the night away. After being something in common and that underlie their child’s Frida Printzlau (left) and Jeanne welcomed on Friday, families neighbours who lived a condition, from the time- Wolstencroft (right) are from the Imagine ID study had the chance to have a pre- quarter of a mile away from honoured technique of looking booked personal discussion each other met for the first down a microscope to up-to- who are looking particularly at with a time. the-minute technologies the behavioural and geneticist. Dr The main part of Saturday was including microarrays. There psychological experiences of Sarah Smithson taken up with a range of was also a chance to talk to young people diagnosed with and Dr Ingrid workshops. Familiar themes members of the Cardiff-based disorders known as copy Scurr (left), were covered – in addition to ECHO research number variations. clinical behaviour, education and Over lunch there were geneticists communication, there were exhibition stands for the from Bristol, sessions on chromosomes, disabled children’s charity and genetic toilet training and sleep, and Contact a Family, the charity counsellors as a hugely popular first on for children with brain-related Margaret sensory integration. Marion Dr Andrew conditions Cerebra, the James (left) kept us to good time by Cuthbert and government-funded transition Roberto Rizzo are from the ECHO study and Jessica to adulthood scheme Bailey gave their time and Preparing for Adulthood, expertise to deepen families’ Tomcat trikes, the Enuresis knowledge of their child’s Resource and Information condition and find answers to Centre ERIC, and FIND, a new their questions. website focused on getting the On Saturday morning, after findings of behavioural the children were settled in research to families in an the crèche, ably run by the accessible way. Mobile Creche company led by The afternoon came to a Carol Hill and her staff, climax with time to socialise supported by volunteers from with tea, cake and a glass of the Bristol Genetic Prosecco to celebrate Unique’s 30th birthday, www.rarechromo.org 13 followed by a raffle and face me… walk painting by Bee Painted a mile in (www.beepainted.co.uk), my shoes”. dinner and an evening’s It wasn’t

entertainment and disco with Dr Jane Waite, from a Johnny G. Unique’s teddy bear clinical psychologist famous mascot Gene joined the philosopher but from an Elvis families to the children’s Presley song! However, it delight. On Saturday summed up perfectly how to lunchtime and evening more approach those who are genetics clinics were run to displaying difficult, or allow families time to discuss ‘challenging’ behaviours. By their child’s condition with an identifying and understanding expert in a relaxed the underlying causes of a environment. Clinical behaviour, we can hopefully geneticist Professor Daniela better manage and in time, Pilz (top left) came from alter it. In many ways children Cardiff, and with genetic disorders are the same as everyone else. They are not necessarily salivating (waking with a wet Certain behaviours can predisposed to challenging patch on the pillow), an arched become functional, a way for behaviour but just experience back or grinding of teeth. A the child to communicate what the world in a different way. ‘Non-Communicating Child they want or need. A child with When comparing different Pain Checklist’ (NCCPC) can Angelman Syndrome showed disorders, even those with tiny be helpful. Five ‘pain higher levels of aggression genetic changes, we often see signatures’ seen in when receiving lower different behaviours. In uncommunicative children and attention, having realised that children with Angelman remembered as ‘FLACC’ were pulling their hair would gain Syndrome (AS), affecting described: Face (eg two lines the eye contact from an adult chromosome 15, the down the child’s forehead), that they craved. In studies, was joined cerebellum is underdeveloped Legs (not kept still, can be researchers wore an ‘attention by Dr Jenny Hague (top right) and some routine activities kicking), Activity (levels of cue’ (an orange jacket) to from Cambridge, and Dr and behaviour do not happen activity going significantly up show when they were having Maddy Tooley (bottom left) and in the same way. It is possible or down), Crying (often in a ‘down time’ and were not genetic counsellor Sarah to track a missing gene different pitch to usual) and available to give the child Buston (bottom right) from through to a certain type of Consolability . Chris then attention. When the jacket was Bristol. Unique is extremely behaviour. Genetic discussed repetitive and off, it meant they were grateful to everyone who so abnormalities may mean one obsessive behaviour often available. Over time, the child generously gave their precious or more internal organs do not associated with autism learnt these cues and stopped free time, expertise, support develop properly, causing pain spectrum disorders, which demanding so much attention and funds to make this and discomfort which can in sometimes affect children when the jacket was on and conference such a success. It turn affect behaviour. Those with chromosome disorders. the bright orange jacket could simply would not have been with Cornelia de Lange Behaviours such as rocking, eventually be reduced down to possible without Jeans for Syndrome for example, often lining up toys and the need for an orange sticker or scarf. Genes, the geneticists and experience uncomfortable uniformity differ by genetic Challenging behaviour can be other professionals who gastro-intestinal reflux. syndrome and this can help us aversive to others but it makes counselled and led Dental problems and middle begin to understand why they them act and engage with the workshops, the many ear infections can result and happen. It is unlikely they can person (eg comfort them or volunteers, and Unique’s the pain can manifest itself in be completely removed but the give attention). This can small team of staff – but above behavioural issues, including aim should be to reduce and become a reward, positively all without you, the families of self-injury. Children with restrict them gradually reinforcing the behaviour, children with rare intellectual disorders often (‘graded change’), from as meaning it has succeeded and chromosome disorders. cannot say they are in pain so early on as possible. Possible increasing the chance of it challenging behaviour can be strategies include: recurring. Chris advised Behaviour Workshop a ‘signature’, indicating the • aim to modify (reduce or parents to be aware of how Professor problem. Much self-injury in restrict), not eliminate the they respond and think about Chris Oliver, non-communicative children behaviour whether they are rewarding School of is an attempt to alleviate pain, • make gradual, not sudden the problem behaviour. Those Psychology, ‘blocking’ it by banging, hitting changes with intellectual disabilities University of or scratching another area of • bear in mind that it may can find communication Birmingham the body. Attempts to allay take a long time before you difficult and may not be able to Chris began pain from reflux can result in see results put their hand up to ask for with a quote from an unlikely fidgeting, hands or fingers in • deal with one behaviour at a something but instead may be source: “Before you judge the mouth, excessive time able to scream and pull their www.rarechromo.org 14 CONFERENCE hair out. This can be a crude Chromosomes in continence problems the bowel. It gets harder and way of communicating. (www.eric.org.uk) talked drier when it sits there and Communication is vital but General Workshop about constipation and toilet the bowel becomes distended. doesn’t have to be training. The bowel will become sophisticated, just fast and Constipation: In the UK two permanently stretched and no effective. thirds of parents of children message will be sent to the When considering challenging who suffer from constipation brain to say that the person behaviour, think about: don't seek help. With children needs to do a bowel • Sensory differences: with special needs this is often movement. After the bowel hearing, vision, touch and because professionals assume has been totally emptied pain perception Dr Sarah Smithson, Clinical that constipation is the natural having been distended, it • Physical health: possible Geneticist, and Jess Bailey, consequence of the diagnosis takes years for it to get back pain; examination by a Genetic Counsellor or disability rather than into shape. Even verbal, doctor may isolate the Two workshops covering treating it as a separate typically developing children cause Chromosomes in General condition which must be who are constipated and • Cognitive style: know and were run by Dr Sarah addressed irrespective of whose bowel has become understand your child’s Smithson, a clinical geneticist disability. stretched don't know that they need to go. When a child who preferences from Bristol. Jess Bailey, a What is considered normal is constipated finally does poo, • Your response: try to stand genetic counsellor, also took bowel movements? In back and ‘watch from above’ it may well hurt which will part by outlining the role of a children anything between 3 to • What the function of the then encourage them to hold genetic counsellor and what 4 times a day to 3 times a behaviour might be – you on and avoid pooing in future. they can do for families. The week is “normal.” If bowel may be able to discover the Constipation will also have an workshops were an movements are more frequent ‘trigger’ for the behaviour impact on the bladder. When opportunity to learn a bit more eg up to 12 a day, they are (and thereby soften it). the bowel is full, the bladder about chromosomes and likely to be due to overflow has less space and is pushed Chris advises parents to seek genes and what a from constipation. Pooing at to the side of its normal the advice of a clinical chromosome disorder is. night time, smearing when position. This leads to the Psychologist early on as the Sarah described in clear detail wiping your child’s bottom and bladder not emptying biggest predictor is often how chromosome disorders night time bed wetting are all properly, to the child having parental concern, which is are diagnosed by the relatively often caused by constipation repeated small pees and can sufficient to ask your GP for a new technology of microarray and if so, parents should also lead to infections. It is referral (and to demand one if comparative hybridisation investigate and resolve the often the cause of nighttime necessary!). When trying new (array CGH). This has resulted cause of constipation first bedwetting. strategies: in an increase in diagnoses for before attempting further • Tackle one issue at a time children and also an increase training. In order to check What to do if your child is • Take a systematic approach in the number of different whether your child is constipated? Brenda • Keep records (eg a diary) to chromosome disorders it is constipated, she suggested recommended giving laxatives measure if you are making possible to diagnose. At the feeding them sweetcorn if you are in any doubt about things better end of each of the sessions, because it comes out in whether your child is • Be consistent and persistent the workshops were opened recognisable shape. Normally constipated. Giving Chris concluded with a quote up to questions from the it should take 24-36 hours for unnecessary laxatives will not from Reinhold Niebuhr: families. All in all the the sweetcorn to exit. cause harm and is far better than failing to treat ‘God grant me the serenity to workshops were a brilliant Why does constipation constipation. accept the things I cannot summary about our happen? Food has to move change, the courage to change chromosomes and genes, and through 10 metres of tubes, NICE (the UK’s medicine the things I can, and the how families can best access turning into poo in the large advisory body) recommends wisdom to know the and utilise the genetics intestine where it develops the the use of Movicol (macrogol) difference.’ service. consistency of peanut butter. which acts by keeping water in Parents are encouraged to Water is absorbed by the rest bowel. For those children who view the FIND website Constipation and Toilet of body out of the large dislike the taste of Movicol, it (www.findresources.co.uk) Training Workshop intestine gradually drying out must not be mixed with milk which has information on the poo. When the poo but can be added to other food understanding behavioural reaches the bowel, it stretches or drinks like yoghurt, soups, difficulties across syndromes. the bowel which sends a porridge, and can even be It is a new online resource message to brain telling the made into ice lollies or jelly. developed by Prof Chris person that they need to do a However it is important to Oliver’s team at the Cerebra bowel movement. However the always mix the sachet of Centre for feeling of needing to go wears Movicol with 60ml water first Neurodevelopmental off after a while and the bowel and then add to other food or Disorders (University of Brenda Cheer, ERIC will remain stretched if the drink to ensure it is not too Birmingham) to improve the Brenda Cheer, a nurse who person does not have a bowel concentrated. exchange of knowledge about works for UK charity ERIC movement. An enormous In order to dis-impact rare genetic conditions. which supports children with amount of poo can collect in someone with constipation, www.rarechromo.org 15 you should keep giving Movicol like a balloon with muscles at dry for an hour at a time Toilet training – learning to until the bowel movement bottom and around top of otherwise it's too early. If they poo in the toilet: Reward them turns to brown water with bits bladder. Toilet training means are not dry for an hour by the for sitting on the potty, not for in it. You can give up to 12 learning to stop the reflex to age of 5 they may have an the actual poo. Find sachets a day. After a full wee that we have as babies idiopathic bladder and you something that motivates your clear out, a maintenance dose and to learn voluntary controls should ask your GP to child to play with such as a should be given of 1 –3 sachets of bladder. investigate. To test, put favourite toy. It doesn't matter every day. She also mentioned Recommendation for toilet kitchen towel in the nappy or what they sit on, whether it is other laxatives such as training – learning to wee: cotton pants on the inside of a potty or toilet or special sodium picosulphate and The expansion of the bladder the nappy and write down how seat. Their knees must be senna which cause muscle sends the message to the often they wet themselves. It above the height of the side of contraction of the bowels but brain to wee so it is important is better for boys to learn the potty or toilet. They must she warns that these can not to put children on the sitting down on the toilet as it feel safe and that their feet cause pain. To prevent toilet every 1/2 hour as the is easier to relax sitting. Also are supported so don’t use a constipation, the key is good urge to wee will not be young boys often don’t know flimsy toddler step. Give them diet, drinking lots of fluids and triggered on an empty bladder. whether their urge is to poo or something involving active exercise. However that is not Wait long enough for the wee until after they have sat play which is distracting, not possible for many of our bladder to refill; ensure your down. Before starting toilet something passive like an children. She warned that child drinks lots first (6 –8 training, try to always change iPad. Concentrate your efforts constipation cannot be treated glasses throughout the day). their nappies in the bathroom, on the best time to poo which by increasing fibre intake and Avoid the common pattern of rather than in other rooms, so is after meals as bowels are that there is a danger that if children drinking a little that they understand the naturally squeezed when full. too much fibre is eaten with before and at school then lots bathroom is the location for But avoid asking your child to too little fluid, the constipation after school. Avoid fizzy drinks going to the toilet. Also try to squeeze a poo or wee out – it will “set like concrete.” Very because they irritate the engage them as much as you is better for them to be ripe bananas do help with bladder. Avoid alcohol (!) and can by getting them to stand relaxed and distracted away constipation but less ripe caffeine as they are diuretics up while changing them, from the task at hand. Start bananas have the opposite and avoid citrus and asking them to hold the clean practising with sitting on the effect. Their effect also differs blackcurrant as they can nappy for you or talking potty after meals for 3 from person to person. The irritate it too. To establish through the process. To seconds to get him or her key message is that whether citrus and succeed a child does not need used to sitting there before constipation must be blackcurrant affect your to understanding why they removing the nappy. Practise addressed when your child is child’s bladder, start by just need to be dry. If you are with clothes on if they are as young as possible, milk and water for a week and hesitating about potty training reluctant. To find a suitable especially in those who are count the number of wees a your child, thinking they are larger potty or toileting chair less mobile, on restricted diet, day then reintroduce not developmentally ready, look at the charity Promocon and who take a reduced fluid blackcurrant or fruit juice and just think forward to when (www.promoconshop.co.uk) . intake. Don’t accept that it is compare. Before attempting they are 16 years old and how inevitable. toilet training you need to difficult it will become to find Education: Delivering Toilet training: The bladder is know that your child is staying places to change them. the new EHC Plans Fiona Slomovich Fiona Slomovic is director of Advocacy and Mediation Consultants, an advice, advocacy and resolution service. She told families about the ‘brave new world’ of EHC (Education, Health and Care) plans which replaced statements of special educational need in England and Wales on September 1st and should be fully implemented by 2018. The government’s aim is to give parents and young people more choice and to achieve better outcomes. But not a single EHC plan has yet been issued, and since local www.rarechromo.org 16 CONFERENCE authorities (LAs) are still the LA or school website required to make the most which must show what is efficient use of resources and offered locally in education, reasonable public care, health, training, expenditure, Fiona was transport and transition to keeping an open mind on adulthood, both with and whether these aims would be without a plan. As for when to achieved. ‘Is there real start the application, it can be change? I hope there will be, early for a child with obvious but I don’t know.’ The needs. For a child with a more guidance in the new code of subtle need like speech and practice repeats that the aim language impairment, or high is ‘best possible education and functioning autism, the other outcomes’. The old documentation needs guidance used less precise assembling to prove that the wording such as ‘best possible school’s own special support endeavours’ and ‘appropriate will not be enough for your skills; Alternative or and adequate outcomes’. But child. With direct payments Practical Strategies augmentative communication in reality what will that mean? now available for education as for Developing and Eating and Drinking. ‘I don’t know if the rhetoric is well as care, parents can in Communication Skills going to lead to anything theory ask for a direct Nicola used the language cake different at all.’ In deciding payment to pay for provision to help explain that there is so whether you need a plan, they arrange themselves. ‘I much more to language remember that without one hope that personal budgets development than just working on a child’s ability to provision is not guaranteed will allow more flexibility, but express him/herself. All the and not enforceable. Parents, this will be hard to implement skills on the plate (desire to ideally with the support of and could falsely raise communicate, turn taking, school or other professionals, parental expectations.’ memory, symbolic play, apply for an EHC assessment Parents can name their choice Nicola Lathey, a specialist listening, waiting, attention, leading to a plan. One of school in any borough, and speech and language awareness of others, eye difference is speedier delivery, here the law has not changed therapist in special needs with weeks from application to contact) need to be mastered fundamentally. Very basically, Nicola began the session by delivered plan cut from 26 to before a child will be able to if they want a maintained asking about the ages of the 20. Put very simply, the LA has understand language and then mainstream school, this children and young adults a duty to carry out an EHC be able to use language. The should only be refused if it whose parents were in the needs assessment for a child icing on the cake is the ability isn’t compatible with workshop. She then went on who may have needs that to make their speech sound educating other children there to ask families about the ways cannot be met from the pretty. She went on to use the efficiently. If they want a in which their children school’s SEN resources. The diagram of the Language Tree maintained special school, the communicated and whether LA must seek advice and to explain that the emphasis is LA has to prove why they can’t they used speech and/ or information from key on a child’s understanding and have it. If parents want an alternative and augmentative professionals. It can refuse broadening vocabulary before independent school, they must communication. Having first to assess, and secondly to moving onto the clarity of the prove why they should have it. established a wide range in issue a plan. Both refusals can words. The language For a residential school place, both age and communication be appealed, but the refusal to environment and input from proof is required of a need for abilities of the children Nicola issue a plan can be appealed adults and peers impacts on a waking day curriculum or moved on to discuss the role to a tribunal only on the the growth and development that it costs no more than the of a speech and language education component. of a child’s language. How do combined costs of the therapist (SLT). A SLT’s job is Specifying the three separate children learn language? A education and social care to assess and develop all elements of education, health child begins to use language components. A dual (split) aspects of an individual’s and social care in the plan will when he understands it is a placement, specified in the communication skills which hopefully encourage the better way to get what he plan, can work very well. One include: Attention and agencies to work together. Listening; Language skills for wants. Children need a social family pointed out that a Schools and LAs have comprehension and setting and someone to mainstream: special school different resources, and there expression; Social communicate with who is split is a good way to start for are huge local differences, so communication skills; Speech aware of their level. Children there is no black and white a child with a chromosome need to be an active partner rule as to what needs dictate disorder without any and want to take part in the the need for a plan. But there recognised educational interaction. Children need to is a rule of thumb that a child prognosis. be motivated to communicate. whose needs will cost the So: statements or EHC plans? Joining single words can be a school more than £6000 on Fiona said: ‘Overall, I’m a big difficult step; a child needs to top of the placement cost will fan of the plan. It really is a learn about 50 words before need one. One starting point is brave new world.’ they start linking them www.rarechromo.org 17 Understanding Sensory Integration Do you have children who: • have difficulty regulating their arousal levels: either hyperactive or hypoactive • are distractible and/or have difficulty paying attention • can’t walk down an aisle of desks without bumping into them • can’t sit at the lunch table – and/or- always knocking a drink over • chews/licks on non-food objects • avoids getting hands messy • are sensitive to certain fabrics; avoids wearing clothes made of them • can’t stay in line when it’s time to “line up” together, but once two-word they don’t answer then supply early intervention; and • are clumsy, always tripping phrases take off joining words the word. Expand on the children in both public and or bumping into others into short sentences usually child’s own communication private school programs. She • have sloppy, disorganized expands. A SLT might start using the formula repeat plus is the founder/director of handwriting with phrases like More ball or one. If the child says I’m Maximum Potential • exhibit poor use of space on More book; or Bye-bye drinking water, say I’m (www.maximumpotential.org. paper/difficulty with spatial mummy. As the child gets drinking fizzy water. Give uk) , a progressive therapy concepts better at joining, try noun-verb instructions in small steps service that provides direct • demonstrate letter combinations like Mummy and give them time. Have paediatric occupational, reversals jumping or Dog sitting. Adapt realistic but high expectations physical and speech and • have difficulty reading – skip your communication so that it of what your child can achieve. language therapy in the US, words and/or lines is appropriate to the child’s the UK, Moscow/St • have difficulty following level – single words or two- Sensory Integration Petersburg, the UAE, the EU, directions as to how to word phrases. Repeat and Workshop and Kenya. Melanne has had perform a task repeat again: a typically an active paediatric private • have poor organizational Melanne developing child needs to hear practice specializing in skills: academic as well as Maddalene a word and see the object at sensory integration and self Randall, MS, the same time more than 500 neurodevelopmental therapy • exhibit difficulty with gross OTR, assisted times before attempting to say for 30 years. Additionally, she motor skills by Alice that word. A child with a consults to clinical and • tires easily, especially when Kovacs, language problem needs educational programs in the standing or holding a Occupational perhaps two or three times as US, UK, Russia, Europe and particular body position Therapist many repetitions. Follow the Africa and conducts Sensory • play too roughly or avoid child’s lead and interests. Get Melanne Maddalene Randall is Integration workshops for play down to their level, make eye a graduate of Auburn doctors, parents, educators • avoid certain textures contact and let them know you University and the Medical and therapists in the • have difficulty going to are there. Offer them choices College of Georgia in the USA, international arena. sleep/shutting down at and wait for their response. resulting in degrees in both Melanne started her bedtime Language develops through Occupational Therapy and presentation by telling us Melannes’s presentation play so this one of the most Pediatric Neurology. She about the senses: included the impact of sensory important ways to develop specializes in the treatment of Auditory (hearing), Vestibular integration on development their skills. Avoid asking lots Sensory-Integration and (gravity and movement), and learning. How does a child of questions since a child with Neurodevelopmental Proprioceptive (muscles and know how to do such complex a language problem won’t disorders, and is an AOTA, joints), Tactile (touch) and and sequential tasks as answer. Instead, just give NBCOT and HPC registered Visual (seeing). She explained jumping or climbing? How them the word that they need Occupational Therapist. She that when it comes to sensory does a child acquire the and provide a model for has developed a variety of issues, the diagnosis is complex skills to tie a shoe or language. For example, if clinical practices in both the irrelevant. You can’t treat write thoughts on the page? looking at a picture book US, UK, Europe, Russia and symptoms, or the behaviour, Exploring the many sensory rather than saying, “What’s Canada, focusing on the you have to get to the systems that must work that?” try saying “It’s a…” and treatment of premature underlying causes, the independently and as a team anticipate their response. If infants; babies and toddlers in sensory systems. to accomplish these and many www.rarechromo.org 18 CONFERENCE other tasks. By understanding grow and learn through their – allows the child to sit at a to stay consistent and strong the process of Sensory own natural desire to explore table and work (versus with their messages to their Integration, you will be able to in a fun, safe and successful jumping up frequently) children. She described identify areas of difficulty and atmosphere. Melanne – helps to maintain focus children as being like develop strategies that will explained that she would and attention gamblers, they will keep on help the child perform to the normally run a workshop – helps to keep muscle tone pushing you if they think there best of his/her ability within lasting three hours, so she ‘up’ is even the smallest chance the home and school managed to condense it into There has been a 30% you will give in and the cycle of environment. All too often, the the one hour slot at the increase in performance using poor sleep will continue. underlying problems of conference and did two the wobble seat. Movement Sleep Environment Sensory Integration separate slots, so that many of facilitates language and Children often have difficulties Dysfunction are missed until our parents were able to development. Melanne also settling if their sleep the level of frustration attend this workshop. Areas mentioned two books that we environment is unsuitable. experienced by the child or discussed briefly included: have mentioned before: ‘The Keep their bedroom walls adolescent, family members, Motor Abilities Out of Sync Child’ and ‘The plain and neutral, ideally have and teachers results in • Gross Motor Coordination Out-of-Sync Child Has Fun: a carpeted room and minimal academic, social and • Fine Motor Coordination Activities for Kids with furniture, avoid stimulating emotional problems • Motor Planning and Sensory Integration objects and toys as this will Learning and emotions are Sequencing Dysfunction’, both written by reduce the risk of shadows functions of our brain. If the Sensory Abilities Carol Stock Kranowitz. forming and scary images brain develops the capacity to • Sensory Integration Melanne also showed pictures being formed in the child’s perceive, integrate, remember • Self-Regulation/Modulation of some of the children she mind. Be aware of sensory and motor plan, the ability can • Visual Perception has been working with doing issues, it may be that your then be applied towards the • Tactile Defensiveness activities to help their child requires a weighted mastery of all learning and • Auditory Defensiveness Proprioceptive senses. blanket, a ‘V’ shaped pillow or related tasks, regardless of a Functional Abilities Sensory integration therapy they might even feel happier specific content. This capacity • Handwriting activities that the children see and more secure sleeping on to “learn” is based on • Visual-Spatial Skills as ‘play’ and not therapy, the floor. adequate sensory integration. • Attention/Focus Skills means that they enjoy the Light Simply speaking, sensory • Organizational Skills therapy. All in all, this was a The pattern of waking during integration is the ability to • Self-Help Skills very well received workshop the day when it is light and take in, sort out, and connect and what Melanne said made sleeping at night when it is information from the world By understanding the process a lot of sense. dark is a natural part of around us so that we can use of Sensory Integration, you human life. In order for this information for will be able to identify areas of Sleep – Understanding melatonin (a natural hormone appropriate responses. difficulty and develop made by your body) to be Sensory integration provides a strategies that will help the and Managing released naturally you need foundation on which to child perform to the best of Children’s Sleep the room to be dark as bright develop perceptual motor his/her ability. Sensory The sleep light inhibits the release of skills, which in turn, provides integration provides a workshop was melatonin. When this a basis for academic learning, foundation on which to run by hormone is released you begin emotional-social adjustments develop perceptual motor Catherine to feel less alert and sleep and activities of daily living. skills, which in turn, provides Stone, a Sleep becomes more inviting. Black Through an understanding of a basis for academic learning, Practitioner out blinds are a good the significance of these emotional-social adjustments from Cerebra. investment as they ensure the sensory and motor and activities of daily living. Sleep is essential for many room is dark, however if your components, you will be better Some children can’t keep still reasons and if your child is not child gets anxious in the dark, able to recognize factors and need to be on the move all getting enough sleep it will use a night light (avoid blue if which may be promoting of the time. You can get the impact their behaviour, possible). It is especially success or causing failure in following products which help learning and memory, important to have a dark room the home and/or classroom with concentration but also concentration, emotional well during the summer months as environment. Children have a allow the child to keep being as well as the rest of the you don’t want your child to natural desire to explore, to moving: family. Sleep is governed by set a summer body clock and learn and to grow. This • Dyna Cushion, or wobble many factors, by wake at 4am, as it will process can become thwarted cushion for stabilising the light/darkness, the times we continue. if somewhere along the way, core. This can be sat, laid or do things, level of activity they become “stuck”, whether stood on. we’ve had during the day, food Modern Day Barriers it is due to neurological • Hokki Stool This is an we’ve eaten but a good routine In the lead up to the bedtime impairment or sensory ergonomic stool that goes a long way to helping routine, give your child time to integrative dysfunction. This transforms stationary sitting encourage good sleeping. unwind, modern day barriers leads to developmental delays, into an activity. It facilitates Catherine stressed throughout can really affect sleep. It is behavioural issues, learning core muscles as well as the presentation the advised the use of television, difficulties, etc. We are stimulates the vestibular importance of a good sleep computers, tablets, phones is committed to helping children system: routine and how parents need stopped 45 minutes before www.rarechromo.org 19 bedtime as it overrides the darkness fall. Read a story, alone in their room. This is are hard to crack. Your child release of melatonin. Diet can say goodnight and leave the where you as the parent need has had a good chunk of sleep also affect sleep. Avoid room. A consistent bedtime to remain strong and keep the so waking at 4am is chocolate, other sugary routine helps a child to message consistent – become acceptable to them and some foods/drinks and caffeine understand what is expected a robot. Keep your voice in a children just wake early and before bedtime. Blackcurrant of them, it can make them feel monotone repeating the same will continue to do so. stimulates the bladder so give safe and secure. message ‘go to bed’ ‘it’s time Catherine’s top tip however for your child a small drink of Night Waking to sleep’, avoid eye contact, early risers is the Gro Clock milk or water to reduce the An ineffective routine can playful conversation, don’t http://gro.co.uk/gro-clock , risk of bed wetting. prompt night waking –a engage with them and you the clock face has a sun for Ideal Bedtime Routine settled child will sleep better. don’t want to show them your daytime and a star for night In order for a bedtime routine Night terrors and nightmares frustration as they will know time. It is a good visual aid and to be successful, you the are other causes of night they are getting to you. Keep works well for non-verbal parent need to be in the right waking: the message consistent children as well. Initially set throughout the night. the clock so the sun rises at frame of mind so that it can be Night Terrors start from the the time your child wakes, you achieved. The bedtime routine age of 3 and usually continue Onset Association need to be realistic about how should take no longer than 45 until 7 years old and generally Children often rely on an item long they have to wait to get minutes and it’s important to happen in the first 3 –4 hours to sleep, a dummy, bottle, toy, up. Extend the time the sun do the things your child of sleep. A child will not be light on, music, this is called rises by 5 minutes every 2 –3 doesn’t like doing first, for aware they are having a night onset association. Whatever days, it can take a while. Every example having a bath or terror, usual signs are you start you must be happy to child is different and you have brushing their teeth. If your shouting the same word over continue throughout the night. to work out what is best for child really doesn’t like doing and over and often throw How many of you have sat by your child and very often it is a something, it is best to avoid themselves around with a your child’s bed and tried case of trial and error. as part of the bedtime routine glazed look on their face. Very creeping out when you’ve Rewards can help, every child and do at some other point in commonly the parent thought they were asleep, only likes a reward be it a sticker the day. A light snack before becomes frightened, the child to have them scream as you chart, toys or food. Find out bed helps reduce the chances wakes, sees this and becomes leave the room? A child needs what reward works for your of them waking hungry. anxious themselves. It is best to be desensitised to having child and then implement this Getting into pyjamas just to keep calm and reassure you around and this is where as part of the sleep routine. A before bed really helps a child them all is ok. Night terrors gradual withdrawal comes in. poor sleeper tends to have a relax and associate them with can be triggered by change of If you are sat in a chair next to stubborn personality, so the fact it is bedtime and time routine, new house, school, their bed, move the chair remember to stay strong. On to sleep. Be mindful that if etc. further away every 3 –4 nights, your child gets into their PJ’s then use the technique of average it takes 4 –8 weeks of Nightmares occur in the just after tea and then they leaving the room for a bit, tell a good routine to solve sleep second half of sleep, a child watch TV and play before them you are going to the problems, a child will never will be aware of a nightmare going to bed, they will not toilet but will be back. And do learn how to sleep on their and will cry and tell you they recognise getting ready for go back, this will help build own if they are not shown. have had a bad dream. bed as a trigger or cue to their confidence, increase the Consistency is incredibly bedtime. A lot of children need Reinforced Waking length of time you are away important, and do celebrate help in recognising these One of the main problems from the room. the small steps, it will help parents encounter is their everyone. cues, ie a child with visual Early Rising child not wanting to be left impairment may not see The bad news is, early risers

www.rarechromo.org 20 he has come on by having her around, my heart just melts. Grants for adult carers The journey to here hasn’t Adult carers can apply for a new range of grants to support them in their caring roles. The been easy and some days are grants are funded by money raised through the partnership between The Rank Group and harder than others, but when I Carers Trust launched earlier this year. They are distributed through the Carers Trust look at Harry and see how far network of carers centres and schemes who provide carers with practical and emotional he’s come, I’m so proud. I support, information and advice in relation to their caring role. don’t know what the future www.carers.org/news/rank-group-partnership-funds-new-grants-carers looks like and whilst he’s continuing to develop and progress, we’re just going to more detail later in my drove home the fact that you wonder if we should have even take each day at a time. I’m so update.) She has just recently can never underestimate the tried to toilet train her as it has grateful for the people I have been diagnosed with Autism. effect of being non-verbal and been a difficult process for met through Unique and love Like every parent of a disabled unable to articulate your many years. As I said earlier, and support we have received child, life has pretty much feelings. Veronica was unable she is completely continent from family and friends. Being been a roller-coaster ride from to tell us why she was crying during the day and rarely has a Unique local contact for day one. Most of the time we at the drop of a hat and accidents but she has a long South Suffolk means that I can have happily gone along for generally being quite history of bedwetting – not help provide support for other the ride but some days we miserable. When she is in when she is asleep, but rather, families in my area who have been screaming to get control of her surroundings when she is fully awake, discover their child has a off! Most of this year has fallen she is calm and happy but any therefore it is not like normal chromosome disorder. I know into the latter category. change can disrupt the status incontinence but a very how important that initial Veronica finished school at the quo. Veronica has only been deliberately planned support is when you feel like end of 2013 and started in a diagnosed with Autism this behaviour. She refuses to wear you’re alone – But you soon ‘Day Program’ this year. We year even though we have any underpants whilst in bed learn, you’re most definitely (foolishly) assumed she would known she is autistic for many and has not worn nappies not! make the transition quite years. Whilst being since she was 12. She simply easily as she has been traumatised by her new Duplication 17p10p12 discards them. This year we attending Sunday and school placement she started to have had many nights when Veronica Lupton: holiday respite at the same display anxieties and we have changed wet sheets aged 19 years provider of the ‘Day Program’ obsessive/compulsive type and the occasional dirty one, behaviours, mostly to do with Louise and John Lupton, for nearly 9 years, as well as up to 13 times a night! She will toileting. 83 Ingham Drive, Casula, knowing a number of staff and hop back into bed after the NSW 2170, Australia other participants. Our biggest challenge for sheets have been changed and E: [email protected] Unfortunately, we totally many years has been in the she has been made to sit on It’s been quite a few years underestimated the impact of toileting area. We decided the toilet, and before we have since I have written so I leaving school after 14 years early on that we would do our even left the room, she will thought it time to update you and being in a very rigid best to toilet train her and have wet the sheets again. She on Veronica’s progress. routine, to starting a started when she was 4 years seems to enjoy the whole ‘Community Participation old. Well, here we are 15 years Just briefly, she was born with ‘theatre’ of someone coming Program’ and being out and later and we are still fighting a Duplication 17p10p12 which into her room and going about most of the day. I think it that particular battle! I often has resulted in her having a through the sequence of severe intellectual disability as making the bed with fresh well as Charcot Marie Tooth sheets. We have tried disease type 1A. She is non- everything including leaving verbal but does make sounds. the room in darkness and not She has had operations on her engaging with her; making her feet, knees and hips and has a stay in wet sheets and even on kyphosis (rounding) of her the plastic mattress protector; spine. She didn’t walk until getting her to ‘help’ with the she was 4½ years of age. making of the bed and taking Whilst she is able to walk the wet sheets to the laundry. short distances, longer Nothing we have tried has distances require the use of a worked including medication wheelchair. She is totally or bed wetting alarms. The dependent on us for toileting, only thing that helps is the bathing and dressing. She can change in the seasons. It is feed herself using a special now winter in Australia and in spoon and plate but is unable the past few weeks the to prepare food for herself. She bedwetting has decreased is toilet timed during the day dramatically – now down to but has night-time only 2 or 3 a night. It seems it’s ‘incontinence’. (I will explain in too cold to get in and out of www.rarechromo.org 21 there would be other families hysterectomy as it comes Education out there who are experiencing under ‘Special Medical similar problems with their Treatment’ which requires a What is an EHC Plan? disabled daughters so I think it hearing before the EHC plans come in from September 2014 and will be rolled is worth mentioning. I have Guardianship Division. We out in phases, they will replace statements. It covers SEN talked about our ‘bedwetting’ applied earlier this year and children and young adults aged 0 –25 years. nightmare and how Veronica were knocked back. You have What is an EHC needs assessment? refuses to wear nappies or to prove that the treatment is An Education, Health and Care assessment looks at life underwear at night. That also either to save a life (not beyond education and brings the different services includes wearing a sanitary applicable to our situation) or together. Parents, young people, schools, other educational pad. So, on top of urine and that the person’s health is at settings and professionals can all make a request for an sometimes faeces, we also serious risk. The panel was EHC assessment. have menstrual blood thrown satisfied that we did prove that It is the local authority which carries out the EHC needs into the mix which obviously Veronica’s health is at serious assessment, and to do so it must seek the following advice becomes a very difficult risk but they said that we did and information: situation to manage. not prove that her mental • about the needs of the child or young person; Thankfully, Veronica will wear health was at risk. After being • about what provision may be required to meet such a pad during the day when she devastated by the result we needs; has her period but because of have decided to apply again • about the outcomes that are intended to be achieved by the Autism, she has big and have garnered more the child or young person receiving that provision sensory issues so she is very information about her mental For more information please visit www.ipsea.org.uk . uncomfortable wearing a pad. and physical health being at Tampons are not an option as risk. We sincerely hope we IPSEA has developed training for parents and carers of they would be impossible to have a favourable outcome this children and young people with SEND, as well as those who insert. She pushes and pulls time. Whilst we are very happy support them (including Local Authority staff, Teachers, the pad, sometimes til it falls that women with an School Governors, SENCOs, Learning Support Assistants out (and this can be in full view intellectual disability are not and volunteer advisers in local support groups). of the general public). We have routinely ‘sterilised’ like they IPSEA training covers the basics of the new SEN Law. to dress her in dark clothing once were, there will always Understanding this law will help you to navigate the so that no one will notice the be exceptions to every rule and complexities of getting the right education for children and seepage of blood. Again, we we feel Veronica is the young people with all kinds of SEND. For more details see have tried so many things to exception. Her uterus causes www.ipsea.org.uk/contact/training/online-training . help make each time of the much anxiety and her quality CDC (Council for Disabled Children) has produced a month not so difficult for her of life would be greatly step-by-step guide to Education Health and Care plans but to no avail. We have looked improved if it was removed. www.councilfordisabledchildren.org.uk/resources/ into every other means of Despite all the hardships we cdcs-resources/a-step-by-step-guide-to-ehc-plans controlling menstruation but have been through, Veronica is This document brings together the primary and secondary none is suitable for her. She a happy person who has had a legislation, the statutory guidance in the SEND Code of can’t take tablets so the pill real positive impact on our Practice on completing the different sections of EHC plans would not be effective if family. She has taught us that and additional notes including key points from other crushed, she has low bone small steps can be massive relevant parts of the legislation and guidance from the density which would be achievements. She has taught Council for Disabled Children. It is designed to support the exacerbated by the Depo- us so many things about completion of person-centred, legally compliant EHC Provera injection. An IUD is determination and never giving plans. not recommended for women up regardless how hard the who have not had children and challenge ahead is. She has PRACTICAL HELP SEND audit tools and action plans requires GA’s to insert and taught us about cherishing the Everybody Included: The SEND Code of Practice explained. change. A Hormonal implant simple things in life and not See more at www.sendgateway.org.uk/ is not recommended as she taking too much for granted. resources.everybody-included-the-send-code-of- would pick it out. Most of the practice-explained.html#sthash.Wk83bFJk.dpuf . above alternatives also Deletion 19p13.13p13.12 UK government website information on the new SEND produce spotting and do not Nigel Evans: aged 3 years reforms www.gov.uk/children-with-special-educational- completely stop periods. We Mum Sherie writes: Nigel is needs/extra-SEN-help have thought long and hard soon turning three! It's a and have decided to apply for stressful and exciting time, her to have a hysterectomy. because here in the USA, bed in the cooler months! are bracing ourselves for the Veronica has had 12 "three" marks a move from the Also, she has settled right start of the warmer months anaesthetics in her life and we early intervention program to and hoping that we will not down into her ’day program’ so were able to give consent for the school system. When I look end up having to change this is obviously helping her all of those GA’s as she is back at the past three years state of mind. We were about sheets 13 times a night all unable to give consent herself, and all we have been through, to start her on anxiety over again! but in Australia parents cannot I can't believe we have made it medication and she came The next part of our story is a give their consent for their to a point where little Nigel good of her own accord. We difficult one to write about but daughter to have a will soon have a school to call www.rarechromo.org 22 be honest I really struggled with this but I did hang on in there and I passed my course and I came away with a job. I've just started getting a small 2 days a week paid job at a school in Exeter, Devon called Ellen Tinkham. It's a very special school for special needs kids up to the age of 19. I did my work placement there and I got given a paid job as a meal time assistant for 2 days a week. I'm hoping to really enjoy this! Also I have been doing very Deletion 20q13.1q13.3 well with my badminton, as I got to a badminton club called Dee Weiner: aged 20 years Queens Badminton Club in my E: [email protected] local town and I'm their Hello everyone it's Dee, I'm special needs rep there. Back back again. I know it's been a in November I took part in the while since I've written an S6 category with the dwarfs in article. I've just finished my 4 Middlesex and in January I years at Bicton agricultural also played with them in college. I did 2 years of Birmingham. It was an foundation which was a course amazing experience I loved it. I for special needs people, and came runners up twice in the then I did a Level Animal Care mixed doubles and singles but course. I got a fantastic grade. I also am in another category I got myself a merit overall in too the LD category (learning my course which my mum disability) with EBAD which thought I'd never be able to do. stands for England Badminton I just about coped in the main Association for the Disabled his own. If mommy can only though our chromo kids may stream course. It was a hard and I won all my lady's singles take their own time, I wanted survive the transition – I may year because we lost a close matches in the LD to share an update about how need my own nurses that first friend of the family sadly. I tournament. When I first much growth there really is have just finished my final year day! wanted to play badminton my when we take a moment to of Bicton. I did the pathway to He is one tough guy! I would mum said to the coach I would look back from where we employment course where I have to look through never be able to hit a shuttle came. got given a job coach, well to paperwork to actually know but now I'm getting so much the amount of hospital visits better and my coach Nick is he has had, never mind now talking about getting me specialist appointments and into to do some trials for tests. But our tough cookie England. has BLOWN past many Lots of things have happened expectations and isn't done since last September, I had my yet! first boyfriend which lasted Speech, feeding and ataxia Ring 20 Research and Support UK is a new charity whose from October –March that was continue to be our toughest mission is to provide support to families, patients and an experience and a half problems. Nigel is fed through professionals affected by or who come into contact with because I was very poorly after a GJ tube and uses both Ring Chromosome 20 Syndrome r(20) – rare epilepsy we broke up for about month signing and speech. Things are syndrome. We provide a CLOSED support group network after because I was so sad and much better health wise than for families via Facebook and aim to provide the latest I stopped eating properly for they were a few months ago information on the condition on our new website weeks and mum had to drive and we never take that for www.ring20researchsupport.co.uk/ (currently under me into college because I kept granted. It still isn't easy, but construction). We operate from the UK, but extend our being sick because I was so we are so thankful for things support to families worldwide. If you, or someone you anxious. I have recovered now to have calmed down. With know is affected by r(20), do feel free to join us. You can thankfully. In the summer nursing help at home for contact us at [email protected] or visit our Facebook holiday I went to this camp breaks and a good team of page www.facebook.com/Ring20ResearchandSupportUK with my mummy called Dance doctors, we have a good for more information . Camp Wales and I sang a solo system in place now. Even in front of 150 people to raise www.rarechromo.org 23 48XXYY Conference and Family Retreat UK 48XXYY Conference and Family Retreat 2015 Event organised and run independently by parents whose sons have 48,XXYY. • World renowned professional speakers offering specialised knowledge on the condition • Question and answer opportunities • Workshops aimed at specific individual groups • A great range of resources to help with daily Life Skills, Education and Behaviours money for Unique and mum going to the pub, visiting zoos • Fun Activities Programme nearly dropped dead with and the sea life centres (she • Time to Relax shock when this boy that was liked these fish but not with Our aim is to bring together as many 48XXYY families from hosting the teen talent gave chips!). She also liked eye the UK as possible in one beautiful central location. me the microphone to do a candy and would flutter her Enabling us all to meet other families with the same speech. I usually stop dead at eyelashes like mad at boys. diagnosis, find out relevant information, share this type of thing but I She was a happy girl who experiences, learn from one another, establish new managed it great, I found the brought a lot of joy into friendships and have some fun. most amazing friends at camp people’s lives, she was well and they were very known in the village, and much The 3 night event will be held on Thursday 28th, 29th and understanding to me and loved; as was shown at her 30th May 2015 finishing after breakfast on Sunday 31st Involved me in everything with funeral, there were so many May , at Losehill Hall, Castleton, Hope Valley, Peak District, them. That feeling made me people, it was standing room England, S33 8WB. We will have sole use of this YHA very happy. I am also still only. Her funeral was a property, providing a safe and secure environment for all to doing my Crediton Youth celebration of her life; we had learn, enjoy and relax, without judgemental outsiders. Theatre Acting And Singing a slide show to show the high Alongside the professional element, there will be activities Group. I seem to be getting points in Carrie Anne’s life. running. Please note we are aiming to appeal to all ages more confidence since I've She is missed so much; we are however children who are less than 6 years of age will been playing badminton and truly lost without her, as she need parental supervision during activities. doing my drama and I'm also was not only our daughter but Losehill Hall is a large 4* Youth Hostel Association volunteering as a sports coach also our best friend. We have Property, centrally situated for all UK families. 3 night’s for an hour on a Friday. I have some beautiful memories that accommodation (in private bedrooms), catering and a lot of support from all my we cherish and they keep our activities will all be included in your stay. Due to finances friends and family and lovely precious Carrie Anne and venue size, numbers are limited so places will be badminton coaches and drama close to our heart forever. allocated on a first come first served basis upon receipt of teacher. Karen Channer, a completed booking form and payment. Closing date for Love from Dee x Kirkby-in-Ashfield, bookings will be Wednesday 31st December 2014. (If space allows, we will open at an additional cost to European Wow Dee – that’s wonderful! Nottinghamshire families after this date.) If you are interested in attending Well done you! We are very We are so very sorry for your this event and wish to register to come along, please proud of you. loss Karen and family. contact Jocelyn Eldridge ([email protected]) . You will then be emailed a booking form. Please complete In Memory and return the booking form along with your £30 per Carrie Anne Channer person booking fee. (Please make cheques payable to 27/8/82 – 28/12/13 ‘48XXYY FAMILY SUPPORT GROUP – UK’ ). Finally we would like to say a very big ‘thank you’ to ‘Jeans for Genes’ for It is with great sadness that I granting us the funding enabling us to provide this am writing to tell you all that specialised UK event. our darling daughter Carrie Anne fell asleep on 28 PLEASE NOTE: This is a parental event being run December 2013. She became independently from Unique and the XXYY Project. Unique poorly in the early hours of and the XXYY Project have kindly agreed to support us by Christmas Day morning and advertising; however they are not involved in the was admitted to King’s Mill organisation. If you have any questions please use Hospital. They did all they Jocelyn’s email address above. could for her, but sadly all attempts failed. Carrie Anne was a great character and she had a fantastic life. She loved life, especially going to the seaside (for fish and chips), shopping, www.rarechromo.org 24 Free respite holidays for families who desperately need a short break Papworth Trust's Kerry Farm near Newtown in Wales provides free respite holidays for families who desperately need a short break. During their stay, families have the Prof Chris Oliver’s team at the Cerebra Centre for chance to get involved with farm life, such as helping to Neurodevelopmental Disorders (University of Birmingham) have look after the animals and growing fruit and vegetables. developed a novel online resource to improve the exchange of They stay in accessible holiday cottages and yurts, with knowledge about rare genetic conditions. The aim of the project experienced staff and family experts on hand if they need is to summarise research studies using a range of interactive any extra support and guidance. The project was featured and engaging formats, for example, parent stories, professional on Channel 4’s The Secret Millions , where 3 families were talking heads, bite sized written information and an interactive invited to celebrity farmer Jimmy Doherty’s farm in Suffolk database. for a real break away from their everyday stresses and The website is called FIND, which stands for ‘Further Inform strains. During their stay, families have the chance to get Neurogenetic Disorders’ and has been developed initially for six involved with farm life, such as helping to look after the genetic syndromes. The site will be expanded in the future to animals and growing fruit and vegetables. They stay in include new groups. In the meantime, families may find the accessible holiday cottages and yurts, with experienced website helpful to visit even if their child does not have one of the staff and family experts on hand if they need any extra syndromes that are featured on the site. This is because the support and guidance. website gives information on understanding behavioural www.papworthtrust.org.uk/node/1016 difficulties that cuts across diagnosis and may be relevant to a wide number of families. The site went live on 10th October 2014 and is available at www.findresources.co.uk . Members of Lives Worth Living the Cerebra Centre team are keen to hear back from Lives Worth Living is a collection of true families about their experiences of using this resource so stories written by fifteen mums, which tell of they can develop it further. If you access the site you will the joys, and the challenges, of caring for be given the option to complete a short 10 item children with life-limited conditions. Readers questionnaire about the site. The Cerebra Centre team will share the happiness and tears, the would be very grateful to any families who are able to struggle and the laughter, and will wonder complete this. In addition, if families are interested in at the amazing resilience of these families. getting involved by contributing information or family This book is a celebration of extraordinary stories please email [email protected] . This short lives that left lasting legacies. project is funded by the charity Why has this book been written? ‘Cerebra’ and The purpose of the book is to help other the Economic and families who are struggling to come to terms with an incurable Social Research diagnosis for their child. The authors also want the book to reach Council (ESRC). out to health and care professionals, so it can be used as a point A family share their of reference and recommendation for families in similar experiences on the FIND situations that are in their care. They also hope that the book will website. help improve understanding levels of the challenges that these children and their families face, and help to shape and influence the support systems for these families in our communities. The Personal Budgets for Post-16 authors are members of a small club that none of us would wish Provision and FE Colleges to join. The subject of child mortality is not something that is easily understood or openly discussed. The authors have found Preparing for Adulthood has brought out a factsheet. The solace in the process of writing, and describe it as having been introduction of The Children and Families Act 2014 has therapeutic for themselves and their families. The stories show brought about a number of duties in relation to Education, the love, struggles and determination of parents to obtain a good Health and Care (EHC) Plans. If you are a young person you quality of life for their children; they tell of the joys found in can request a personal budget which can include elements unexpected places and the daily battles for equality. Having read of education, health or care provision. This Factsheet this book you will be left in no doubt that these children have combines work from Preparing for Adulthood, In Control helped shape the deepest values, beliefs and attitudes of those AOC and Natspec. It explores examples and scenarios of lives they have touched. Proceeds from the sale of the book, how personal budgets can be implemented in Further which was crowd funded, are going to Children’s Hospice South Education colleges and post-16 provision. There will be an West and the Jessie May Children’s Hospice at Home. update to this factsheet in March 2015 to share further learning from local areas. Published and distributed by Southgate Publishers Ltd, The Square, Sandford, Crediton, Devon EX17 4LW, UK. You can download this factsheet from Tel: 01363 776888 . The book is available from Amazon, direct www.preparingforadulthood.org.uk/resources/pfa- from the publisher or through the website. Website to resources/factsheet-personal-budgets-for-post-16- accompany the book www.livesworthlivingbook.co.uk . provision-and-fe-colleges . £6.95 164 pages ISBN: 9 781857 411683. www.rarechromo.org 25 Research project focusing upon parents of an adult with a severe intellectual disability My name is Sanchia Biswas. I am a Trainee Clinical Psychologist at the University of Nottingham. I am currently conducting a research project for my thesis which is focusing upon parents of an adult with a severe intellectual disability. In particular, the project is looking at parent experiences of seeing their child become an adult. This is an area that has received very little research so your views will be very important! The study involves interviewing parents (either face to face, via telephone or Skype) for up to one hour to explore your views. All he is properly supported, safe and happy. It will revolutionise our personal information will be kept anonymous. If you are shopping trips. “The other benefit is that people now look at the interested in taking part in this study or finding out more trolley and understand that there could be a reason why Ryan is about it then please contact me via telephone or email and distressed, rather than the usual label of being a ‘naughty child’, shown below. Also, I wanted to say a big thank you to all which we so often have to endure when out in public.” those who have participated over the last year. I have really Source: Disability Today appreciated your time and it has been enlightening to hear your experiences. I look forward to hearing from others too. Sturdy Kids Clothing Sanchia Biswas (trainee clinical psychologist) Clothing for robust children, who are large, tall or small T: 07702 757250 for their age. They also have an excellent seamstress who E: [email protected] has been able to alter clothes to suit children’s individual needs, for example kids with disabilities and those that cannot cope with buttons and zips, so if anyone has any Sainsbury’s introduces ‘disability-friendly’ specific needs – they may well be able to help. This shopping trolleys company is offering Unique members as an introductory offer a 10% off discount code, SK14, which you can add at Supermarket chain Sainsbury’s is introducing 600 of its new the basket to get 10% off your entire order. ‘more secure shopping trolleys’, designed in collaboration with Unit 1A AVM Business Centre, Lansdown Industrial Estate, parents of disabled children, in stores across the UK from Gloucester Road, Cheltenham, Gloucester GL51 8PL September 2014. The new trolleys are fitted with a special T: 0800 0439 335 E: [email protected] padded seat and harness and have been described as “a www.sturdykids.co.uk benchmark to others in the retail sector” by Minister for Disabled People Mark Harper. All Sainsbury’s supermarkets will have at least one of the new trolleys by the end of October. The Transition Event 2015 The design adaptations were prompted by articles written by Becoming an adult – building the best future for young people parents Maria Box and Stacie Lewis, whose children have autism with additional needs. and brain damage from birth respectively. Announcing the introduction of the new trolleys Hannah Bernard, Sainsbury’s The National Motorcycle Museum, Birmingham director of customer experience, said: “We were reviewing our Thursday 4th June 2015, 9.30am –4.15pm range of trolleys when we read about Maria’s experience and Essential conference and exhibition for professionals and Stacie’s call for supermarkets to introduce a new trolley for parents supporting young people with additional needs into disabled children. We immediately contacted them and invited adulthood. them to trial our new trolley with their children. “We always had This annual, one day conference and exhibition, explores the trolleys for parents with disabled children but they weren’t essential aspects of a young person's transition to adulthood appropriate for children with disabilities such as cerebral palsy when they have additional needs. or autism. We hope these new trolleys will make shopping much The conference identifies and shares best practice, delegates easier for thousands of parents like Stacie and Maria and are will receive practical guidance to allow them to achieve the best very grateful to them for helping us with the design.” possible transition for those they support. Main stage Further reading: Changing Places and NUS team up to campaign presentations will include representatives from central for more accessible universities. government, housing and support providers, researchers and From April of this year, the supermarket invested in developing professionals with first-hand experience of achieving the best for prototype trolleys and trials by Maria, Stacie and other parents of young people in transition. disabled children. Commenting on the new trolleys Maria Secure your place by booking online today at (pictured with five-year-old son Ryan) said: “I am thrilled that http://thetransitionevent.eventbrite.co.uk (Professional Sainsbury’s has invested in these trolleys. All parents with delegates only). Or download the relevant booking form, disabled children know how stressful it can be to take them complete and return it to us. Professional delegates booking shopping. It had got to the point where I couldn’t go shopping form http://bit.ly/1w0zMwK . Parents, carers and service users with Ryan because he had outgrown the seat. In this new trolley booking form http://bit.ly/1r3u1Jq . www.rarechromo.org 26 The Friendly Information Company The Friendly Information Company is a Social Enterprise run by Social Networking (Facebook groups) and for people with disabilities and/or autism, mental health All of our local to you facebook groups and the Unique problems, vulnerable and disadvantaged people of all ages.It network cafe are ‘secret’ in status. This means that they was started by Speakup Self Advocacy, which has over 26 years can’t be found in a search. You need to be a registered experience supporting vulnerable and disadvantaged groups. parent/grandparent/carer member of Unique to use them; Our aim is to help people and organisations to make their no outsiders can see what you post, only other registered information accessible to all. Making information accessible members can see them. You have to be invited to join by helps disabled people to be in control, included and will help the email address you use for facebook. If you would like to organisations meet their disability access requirements. be added to the cafe, or one of the local groups, please email [email protected] . 31 Broad Street, Parkgate, Rotherham S62 6DX T: 01709 724766 E: [email protected] We have a couple of other secret groups: www.friendlyinformation.org.uk • Club Unique – which is for any adult members who have a chromosome disorder themselves • Chromosome Angels – for those who have lost a child The Special Parents Handbook with an RCD • Grandparents group – this group should be set up by the by Yvonne Newbold time you are reading this. The group is for grandparents Has your child been diagnosed with any form of SEN or to talk to each other, offering mutual support and disability, autism or a serious illness? Are you facing uphill information. struggles to get the right support, the appropriate level of We still have our public Facebook page for non-members, care and the best education for your child? Having a friends, family and supporters www.facebook.com/pages/ disabled child in the family changes everything. Too often, Unique-Rare-Chromosome-Disorder-Support-Group/ family life can revolve around battles with the authorities to 130797430472 . Many of the members of our Facebook local get essential support and equipment, parents find groups have met up for coffee, days out, etc. themselves swamped in layer upon layer of bureaucracy The local groups set up are: and administration, dates for meetings, appointments and • Unique South West England therapies fill the diary up months in advance, and it can all • Unique Devon and Cornwall be frighteningly overwhelming. Yvonne Newbold lives in • Unique Sussex, Surrey, Kent South London, and is the mother of three children with • Unique London disabilities, who also had to face long-term life-threatening • Unique Home Counties North serious illnesses. She knows how hard things can be for • Unique Yorkshire families like hers, and how much easier everything could be • Unique Hampshire, the IOW, East Dorset if small low-cost or no-cost shifts in culture and thinking • Unique West Midlands could be adopted by everyone working within our Education, • Unique East Midlands Health and Social Care Public Services. • Unique NE England Available to purchase from Amazon, also on kindle • Unique NW England www.amazon.co.uk/The-SPECIAL-PARENTS-Handbook • Unique East Anglia -1/dp/1910202231 • Unique Scotland • Unique Wales • Unique Northern Ireland The Challenging Behaviour Foundation Europe Would you like to chat with • Unique Republic of Ireland (ROI) other family carers in a • Unique Europe similar situation? Have you America ever wanted the opportunity • Unique Midwest USA to get some support from • Unique Northwest USA someone who’s been in your • Unique Southeast USA shoes? The Challenging • Unique Northeast USA Behaviour Foundation’s • Unique Southwest USA Family Carers’ Email Network could be for you! Australia The network is open to any family member caring for a relative • Unique Australia with severe learning disabilities whose behaviour is described as Canada challenging. So whether you are a parent, sibling, grandparent or • Unique Canada even an aunt or uncle you will be very welcome to join. All the New Zealand messages are anonymous and you can ask for advice on any • Unique New Zealand issue you’d like. We’ve had questions about challenging South Africa behaviour, iPad apps, strong furniture, how to become a deputy, • Unique South Africa renovating your house… the possibilities are endless. To join the network you can email Jessica at [email protected] . Or And our newest group is: Russia there’s more information about it on our website • Unique Russia www.challengingbehaviour.org.uk . www.rarechromo.org 27 Medically verified information guides for families Available for these rare chromosome disorders English • 6p25 deletions New • 13q deletions including RB1 • 19p13.2 deletions New • 6q deletions between • 13q deletions various • Proximal 1p deletions • 20p deletions 6q11 & 6q16 • 13q distal interstitial • 1p36 deletions • Duplications of 20p • 6q deletions from deletions • 1q21.1 microdeletions • Ring 20 6q13 & 6q14 • 13q deletions including • 1q21.1 microduplications • 21q deletions • 6q deletions between the end of 13q • 1q4 deletions • Ring 21 6q15 & 6q23 • Ring 13 • 1q duplications • 22q11.2 deletions • 6q deletions between • 14q deletions between • Supernumerary • 22q11.2 distal deletion 6q23 & 6q24 14q22 & 14q32 chromosome 1 syndrome • 6q deletions from 6q25 • 14q deletions from • 2p15p16.1 microdeletions • 22q11.2 microduplications • 6q deletions from 6q26 14q31 & 14q32.1 • 2p deletions • 22q13 deletions & 6q27 • 14q deletions from • 2p16.3 deletions New • Duplications of 22q12 & q13 • Duplications of 6p 14q32.2 & 14q32.3 • 2q23.1 microdeletions • Ring 22 • Duplications of 6q • 14q deletions proximal • 2q24.3 microdeletions • 7q duplications New to 14q22 • Xp11.2 duplications • 2q32 deletions • 7q11.23 duplications • Duplications of distal 14q • Duplications of Xq28 • 2q33.1 deletions & other • Proximal interstitial • Uniparental disomy 14 • 45X/46XY including deletions between 2q31 7q deletions • Ring 14 Y chromosome and 2q33 • 7q21q32 deletions • Trisomy 14 mosaicism rearrangements • 2q37 deletions • 7q32q34 deletions • 47,XYY Update in progress • 2q37 deletions in • 15q deletions • 7q36 deletions • 48,XYYY adolescents & adults • 15q11.2 microdeletions • 48,XXYY • Ring 2 • 8p23 deletions • 15q13.3 microdeletion • 48,XXXY • Duplications of 2p • 8p23 duplications syndrome • 49,XXXXY • 2q duplications • 8p duplications • 15q13.3 microduplications • Inverted duplication and • 15q24 microdeletions • Pentasomy X • 3p25 deletions deletion of 8p • 15q26 deletions • Triple X • 3p26 deletions New • 8q duplications • Duplications of 15q • Tetrasomy X • 3q13 deletions & • Supernumerary • Isodicentric 15 • Triploidy microdeletions New chromosome 8 • Ring 15 • Diploidy triploidy • 3q29 deletions & • Trisomy 8 mosaicism microdeletions • 16p11.2 microdeletions • Balanced reciprocal • Trisomy 8 mosaicism in • 3q29 duplications & • 16p11.2 microduplications translocations adolescents & adults microduplications • Other proximal deletions • FISH tests • 3q duplications • 9p deletions (Alfi syndrome) of 16p • Microarrays • 9p24 deletions • 16p13 deletions • DNA sequencing • 4p;8p Translocations • Kleefstra syndrome • 16p13.11 microdeletions • Robertsonian translocations • 4p duplications (9q34.3 deletions) • 16p13.11 microduplications • Small supernumerary • 4q deletions between • 9q34 duplications • 16p13.3 duplications marker chromosomes 4q11 & 4q22 • Duplications of 9p • 16q deletions • 4q deletions between • Ring 9 • Duplications of 16p 4q21 & 4q22 In preparation • Trisomy 9 mosaicism • Duplications of proximal 16q • 2p16.3 deletions • 4q deletions between • Tetrasomy 9p • Trisomy 16 mosaicism • 5p duplications 4q21 & 4q31 • 16p12.1 deletions • 4q deletions from 4q31 • 10p deletions • 17p13.1 and 17p13.2 • 17p13.3 duplications & beyond • 10p duplications deletions • 19p13.12 deletions • 4q duplications • 10q22q24 deletions • 17p13.3 deletions • 19p13.13 deletions • 10q25/6 deletions • 17p duplications • 5q14.3 microdeletions • 19p133 deletions • Duplications of 10q Update in progress • 5q22 deletions • Balanced insertional • 17q12 deletions • Trisomy 5p: Duplications of • 11;22 translocation translocations • 17q12 microduplications 5p13 & 5p14 New • Emanuel syndrome • Koolen de Vries syndrome June 2014 • Trisomy 5p: Duplications of • 11q terminal deletions (17q21.31 microdeletions) 5p15 New (Jacobsen syndrome) • 17q21.31 duplications • Trisomy 5p: Duplications of • Duplications of 12p the whole 5p arm New • Pallister-Killian syndrome • 18p deletions • Trisomy 5p: and mosaic tetrasomy 12p • 18q proximal deletions Microduplications of • 12q deletions • 18q distal deletions 5p13 & 5p1 New • 12q14 microdeletions • Ring 18

www.rarechromo.org 28 • 13q deletions various • Idic 15 Arabic • 6q26 & 6q27 deletions New • Koolen De Vries syndrome • Array CGH • 7q11.23 duplications (17q21.31 microdeletions) • Inv dup del 8p In preparation Danish • 8p duplications • Ring 18 Russian • Triple X • Trisomy 8 mosaicism • Duplications of 20p • Trisomy X In preparation • Array CGH • 9p deletions • Ring 22 • Trisomy 9 mosaicism • Pentasomy X Spanish Dutch • 10q25q26 deletions • XYY • 1p36 deletion • 1p36 deletion syndrome • 11q deletion disorder • XXX In preparation • 1q21.1 microdeletions In preparation (Jacobsen syndrome) • Array CGH In preparation • 1q21.1 microduplications • 2q37 deletions • Pallister Killian syndrome • Robertsonian translocations In preparation In preparation • 13q deletions • Small supernumerary • 2q23.1deletion syndrome • 3p25 deletions • Ring 14 marker chromosomes New In preparation • UPD14 • 2q37 deletions • 3q29 microdeletions • Ring 15 Greek In preparation • 4q duplications • Idic 15 • Array CGH • 3p25 deletions New • 7q11.23 duplications • Duplications of 15q • Balanced Translocations • 3p26 deletions New In preparation • Duplications of 17p • 5q deletions New • 9p deletions • 17q21.31 microdeletions Italian • 7q11.23 microduplications • Trisomy 9 Mosaicism • Ring 18 • Inv dup del 8p • Duplications of 7q In preparation • 22q13 deletion In preparation • 8p23.1 deletions New • 11q deletion disorder • Ring 22 • Idic 15 • Trisomy 8 mosaicism (Jacobsen syndrome) • Tetrasomy X • 18p deletions In preparation • 18q deletions New • Pentasomy X New • Proximal 18q deletions • Trisomy 9 mosaicism • 22q13 deletions • 49,XXXXY • Distal 18q deletions • Duplications of 9p • Tetrasomy X • 48,XXXY • Ring 18 • Kleefstra syndrome • 48,XXYY • Array CGH In preparation French • Array CGH • 10q25 & q26 deletions New • 1p36 deletion • Robertsonian Polish • 11q deletion disorder • 1q21 microdeletions Translocations • 1q21.1 microdeletions Jacobsen syndrome In preparation • 1p36 deletion • Idic 15 In preparation • 1q21 microduplications German • 7q11.23 duplications • 16p11.2 microdeletions In preparation • 1q21 duplications • 16p11.2 microdeletions • 16q deletions In preparation • 1q4 deletions In preparation • 1q4 deletions New In preparation • 17q12 microdeletions • 2q32 deletions and • 3p deletions • Idic(15) In preparation • 17q21.31 microdeletions microdeletions • 4q deletions between • 18p deletions In preparation • Proximal 18q deletions • 2q37 deletions 4q21 and 4q22 • XXXY New • Distal 18q deletions • 3p25 deletions New • 6q deletions from q15 to q23 • Array CGH In preparation • 22q13 deletion • 3q29 deletions and • 7q36 deletions • Balanced translocations • Triple X microdeletions New • Trisomy 8 mosaicism • 48,XXXY • Duplications of 4p New • Duplications of 9p Portuguese • 49, XXXXY • Deletions including 5q22 • Trisomy 9 mosaicism • 2q23.1 deletion syndrome • Array CGH • Duplications of 6p • 11q deletion disorder New • Balanced Translocations In preparation Jacobsen syndrome • ArrayCGH In preparation September 2014 www.rarechromo.org 29 Christmas Cards 2014

NEW NEW n! n! desig Ho Ho Ho was the winner of desig and Gifts our design a card competition and was designed by George Doswell who is 9. George has left-sided hemiplegia and made the card using his fingers, paint and felt tips.

Christmas Baubles Ho Ho Ho 125mm x 125mm 175mm x 115mm

S ilic NEW W on ! Twin pack consisting of B ris e esign lu tb d O e/ a ne Y n We Three Kings and el si lo d While Shepherds ze w Watched 5 cards of each design in one pack, 125mm x 125mm

NEW NEW ! ! design design

in P l s e e p g a d REDUCED L a Keep Calm Winter Post Robin in Frost B r 125mm x 125mm 125mm x 125mm 128mm x 128mm e ck s o g /L in y yr lle e ro K T in o Twin pack consisting of C Christmas Baking and Traditional Christmas Pudding 5 cards of each design in one pack, 150mm x 150mm

REDUCED

www.rarechromo.org 30 ORDER FORM

Description Quantity Cost Postage and Packaging

Christmas Baubles UK 10 cards in each pack all one design @ £3.80 per pack 1–6 packs £3.00 Greeting: Merry Christmas and a Happy New Year 7–10 packs £6.00 11 –15 packs £14.00 Ho Ho Ho 10 cards in each pack all one design @ £3.80 per pack For orders of more than 15 Greeting: Merry Christmas and a Happy New Year packs, please contact us for a price. Keep Calm 10 cards in each pack all one design @ £3.80 per pack OVERSEAS Greeting: Best Wishes for Christmas and the New Year Europe Rest of World We Three Kings and While Shepherds Watched 1–3 packs £5.50 £7.50 10 cards in each pack – 5 of each design @ £3.80 per pack 4–6 packs £8.00 £13.00 Greeting: Merry Christmas and a Happy New Year 7–10 packs £12.50 £21.00 Winter Post For orders of more than 10 10 cards in each pack all one design @ £3.80 per pack packs, please contact us for Greeting: Seasons Greetings a price. Robin in Frost (reduced) Please complete and return 10 cards in each pack all one design @ £3.00 per pack the order form with your Greeting: Season’s Greetings cheque made payable to Christmas Baking and Traditional Christmas Pudding (reduced) ‘Unique’ and send to: 10 cards in each pack – 5 of each design @ £3.00 per pack Gemma and Craig Mitchell, Greeting: Best Wishes for Christmas and the New Year Unique, Unit G1, The Stables, Silicone Wristband – Blue (no p&p charge for up to 6 @ £2 each Station Road West, Oxted, purchased WITH Christmas cards) Surrey RH8 9EE, England Silicone Wristband – Yellow (no p&p chargefor up to 6 @ £2 each T: 01883 723306 purchased WITH Christmas cards) E: [email protected] Lapel Pin Badges (no p&p chargefor up to 6 @ £2 each You can also purchase cards purchased WITH Christmas cards) through our online shop at: www.christmas- Trolley/Locker Coin Keyring (no p&p charge for up to 3 @ £2 cards.org.uk/unique each purchased WITH Christmas cards) Sticky Notes (no p&p charge for up to 3 @ £2 each purchased WITH Christmas cards) Sub Total Postage Donation If you are a UK taxpayer, remember to sign the gift aid declaration. (We are only able to claim gift aid on additional donations) Total

GIFT AID PLEASE WRITE CLEARLY If you are a UK taxpayer, for every £1 you donate Unique can claim Mr/Mrs/Miss/Dr/other an extra 25p from the taxman if you sign this Gift Aid declaration. Address INDIVIDUAL GIFT AID DECLARATION I wish all donations I make to Unique on or after the date of this Postcode declaration to be treated as Gift Aid donations Telephone (including std code)

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www.rarechromo.org 31 WHO TO CONTACT To make life easier for you we have listed below the You should contact Craig if: person best to contact for our different services. If • You would like to fundraise for Unique by taking part in or organising you own event, we are not at our desks when you call, please including the London Marathon, Great leave a message and we will get back to you as North Run and others. soon as possible. • You have any queries about how to set up an online fundraising page or collect You should contact BEVERLY if: sponsorship both online and offline. • You haven’t yet received your initial letter • You would like to make a donation to Unique or send in from Beverly with information about your fundraising monies. child’s rare chromosome disorder and links • You can help Unique receive grants or access other funding to other families (please allow up to 28 days opportunities. from first contact with Beverly). • You have ideas or skills to help us develop Unique, including IT • You want up to date lists of relevant families skills, website design, creative, marketing, PR, finance or on the database who want contact. fundraising skills. • You want information about a specific rare chromosome • You can help us to raise awareness of Unique and rare disorder. chromosome disorders. • You have any queries about your database entry • You think your employer may be able to help us either • You have been sent a database entry form and you have any financially or through gifts or other benefits in kind. questions about it. (Please return completed forms to Beverly). • You have any questions, comments or suggestions about the • You have any technical questions about medical or genetic Unique conference or can help with organisation. matters relating to your child’s disorder. • You would like a copy of our annual report and accounts or • You would like any information on other matters related to your have any questions about the management of the charity. child or yourself eg if you need an address for other useful • You have any comments or suggestions about how Unique is organisations. run, the services we offer and how we might look to develop • Any queries relating to the Unique website. the charity in future. • You would like a piece included in the Unique magazine. Craig Mitchell – Chief Operating Officer Beverly Searle – Chief Executive Officer Unique, Unit G1, Station Road West, Oxted, Surrey RH9 9EE, UK Unique, Unit G1, Station Road West, Oxted, Surrey RH9 9EE, UK T: +44 (0)1883 723356 | E: [email protected] T: +44 (0)1883 723356 | E: [email protected] Skype: craig.mitchell19 Skype: rarechromo If you need to find out something and you can’t see it listed here, You should contact MARION if: please contact Beverly. • You haven’t yet received your information pack containing our guide to rare You should contact CATHRYN chromosome disorders (please allow 14–21 in Beverly’s absence: days from first contact with Beverly). • You would like a copy of our Little Yellow Cathryn Moss – Information Officer book or Unique Tales. T: +44 (0)1883 723356 • You would like a back issue of the magazine. E: [email protected] • You are a professional and need supplies of leaflets/posters. • You would like to become a Local Contact for your area or, if you have any questions about becoming a local contact or want to know who your nearest one is. You should contact Sarah if: • If you are already a Local Contact and you need some more • You would like any of our information guides leaflets/posters, etc. on specific rare chromosomes disorders. • You would like any fundraising/publicity items, eg balloons, • You would like copies of papers published in leaflets, posters, sponsorship forms, etc. the medical literature. • If you would like wristbands or ID cards. • You want to help translate any of our guides • You would like a Unique pyramid collection box or you have any or contribute to new guides. questions related to the collection boxes. Sarah Wynn – Information Officer • You need practical information, eg information on grants, T: +44 (0)203 211 1098 trikes, special needs equipment, etc. E: [email protected] • Information about our social networking sites. • You cannot get in touch with Beverly and your enquiry is urgent. You should contact JENNY: Marion Mitchell – Family Support Officer • For any queries about Unique’s accounts or T: +44 (0)1293 525504 | E: [email protected] finances. Skype: marionatunique Jenny Knight – Finance Officer Disclaimer T: 07811 908696 | E: [email protected] Although great care has been taken to ensure the accuracy of the information in this magazine, Unique cannot accept responsibility for any errors or omissions. Any information in this magazine is provided for education/information purposes only and is not a substitute for personal, medical or genetic advice. Families should consult a medically qualified clinician in all matters relating to genetic diagnosis, management and health. Unique mentions other organisations' message boards and websites to help families looking for information. This does not imply that we endorse their content or have any responsibility for it. The Trustees and staff of Unique and the magazine publishers do not necessarily agree with the views and comments expressed by individuals or other organisations writing in the magazine. www.rarechromo.org 32