★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ Spring 2015 No. 78 SHINE BRIGHT AND BE UNIQUE ★ ★ Help raise awareness for ★ ★ ★ chromosome disorders ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ CHROMOSOME DISORDER AWARENESS 2015 7th –13th June 2015 ★ ★ ★ ★ ★★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ For more information and ideas, ★ see pages 3 –5 ★

Inside this issue

Group News | Fundraising | Members’ Letters | Awareness Week 7th –13th June 2015 | Unique’s Show Garden at Hampton Court Palace | The Compassettes Sophie, Unique’s Chair of Trustees Dear Members, Legacies Have you ever wondered why membership of Unique is free, why we don’t charge to join? I never gave it a thought until I became a trustee of Unique. Since Max’s birth I’ve joined lots of organisations and support groups that have helped in different ways and unlike Unique almost every one of them charges an annual fee. I discovered that at Unique it has always been a basic principle that we are free to join – both for families and for professionals. Why is membership free? We don’t want anyone to miss out on our helpline, on making connections with other families and on our magazine for financial reasons. We don’t charge for downloading the chromosome guides either as we want families and professionals to get immediate unrestricted access to high quality combination of grants from charitable foundations and donations from information. But another reason for not charging is that one of the most members and more and more from the amazing fundraising activities so important and unique (!) things that Unique does is to collect in its many of you do for Unique: those marathons and 10k runs, those cake database life-time information about all our children and their medical sales and dress-down days, and so much more. There is one other thing and developmental challenges. Our database holds the most extensive that we could do to help guarantee Unique’s long-term future: by making information about rare chromosome disorders in the world and we want a legacy to Unique . When you come to draft or revise your will, a legacy to keep adding to it and we want the knowledge we build up to be shared is wonderful way to make a long-lasting contribution to Unique, without as widely as possible. We don’t charge because we want all of you to stay needing pay for it now. A small legacy, whether a specific sum or a Unique members forever, long after the initial shock of diagnosis has percentage of your estate, would make a huge difference many years passed and when you might feel you don’t need Unique as much. We ask down the road. A legacy could be used to continue Unique’s general work you to update us about how your Unique child or adult is doing so that we of raising awareness and understanding life with chromosome disorders can continue to gather more information as our children age. At birth I and supporting families, or a legacy could fund a specific project close to wanted to know whether Max would walk or talk. Now I want to know your heart. Please do let us know if you would like more information on how teenagers with his chromosome disorder are affected by puberty how to leave a legacy to Unique and how you could make a difference. and what they do after school. Later I will want to know about how Please do contact me on [email protected] or Craig on middle- and old-age will affect him. We all need each other to stay in [email protected] or +44 (0)1883 723306 to talk about how you touch with Unique so that we can learn from each other’s children. If we would like to help. charged we fear that members wouldn’t stay in contact after the first few Thanks, years. Not charging a membership fee is tough! It means no regular income, no increase in income to match our huge membership growth. In the last 10 years our membership has grown from around 2,000 to more than 12,300 and around 150 new families join us every month at the moment. Our staff work fantastically hard to provide the same quality of service to the 12,300+ as they did to the 2,000. We do it through a Sophie, mother of Max, dup 9p Beverly, Unique’s CEO Dear Friends Following on from Sophie’s plea above for help with fundraising and understanding of what a rare chromosome disorder is and what it means legacies, I want to stress how important it is that we also raise to families like ours, caring for our very special children. So please start awareness of rare chromosome disorders among professionals, family planning now what you are going to do in awareness week. We can help and friends, work colleagues and the general public. In this issue you will with information and instructions and will be sending out and posting on find lots of information on our forthcoming Chromosome Disorder our website and Facebook lots of information over the coming weeks. Awareness Week from Sunday 7th to Saturday 13th June, as well as on However, if, for example, you want to give a presentation at school or our amazing show garden at the Hampton Court Palace Flower Show work or have an awareness-raising event at your local supermarket, you starting at the end of June. As I commented when I made a really need to contact these organisations now because they get booked donation to kick off our fundraising appeal to help up quickly. We are also planning a press campaign and will need case make the Show Garden a reality, I can remember studies for different geographical areas, so please let Caroline only too well the completely blank looks on most ([email protected]) know if you would like to help with this. Let’s people’s faces when I told them about my really shine the spotlight on rare chromosome disorders and enlighten daughter Jenny’s rare chromosome disorder. new audiences about rare chromosome disorders. Most had not a clue what I was talking about Thank you and kindest regards and it was so isolating for us as a family. Things have improved to some extent but there is still a huge way to go to make people instantly recognise the name Unique and to have a good Beverly www.rarechromo.org 2

GROUP NEWS

CHROMOSOME DISORDER AWARENESS 2015 7th –13th June 2015 ★ ★ ★ ★ ★★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ ★ If you have been touched by Unique, we would really love your ★ ★ support to help us to raise awareness and reach more people who, like you, have faced the diagnosis of a rare chromosome ★ disorder. ★ There are so many ways you can help. Our aim is that awareness week is fun and inspiring and celebrates the unique children and adults in our lives. We want to evoke togetherness GET INVOLVED 7th –13th June and help spread the word so no family faces diagnosis alone.

SUNDAY ‘SELFIE SUNDAY’ Share your ‘chromo cutie selfie’s’ on your Facebook page creating awareness and we’ll celebrate our togetherness by building a wall of photos on the Unique Facebook page.

MONDAY PRESS and SOCIAL MEDIA Inform others about chromosome disorders on Facebook, Twitter, Instagram and talk to your local press.

TUESDAY SPREAD THE WORD Tell 3 people you wouldn’t normally tell, as well as professionals and your local political representatives about chromosome disorders.

WEDNESDAY PRESENTATIONS Give a presentation at your child’s nursery or school and at your place of work.

THURSDAY Q&A Our team will be answering any questions you or anyone else might have.

FRIDAY BIG BLUE BAKE SALE and Download our Big Blue Bake Kit from the website and hold a DRESS DOWN DAY truly ‘unique’ cake sale and dress up at nursery/school/work in Unique’s colours, yellow and blue.

SATURDAY EVENTS and COLLECTIONS Hold a fundraising event such as a sponsored walk, garden party, fun day or organise a bucket shake at your local supermarket, or you could even hold a dinner party.

Look out for more details, over the coming weeks, with ideas and instructions to help you get involved. There will be a new, dedicated awareness week page on our website as well as regular emails and posts on our Facebook and Twitter feeds, We will be sending out ‘daily facts’ every day during awareness week, so please help us reach a wider audience and shine the spotlight on chromosome disorders by sharing these facts with others. For more fundraising/awareness raising ideas, please visit our website www.rarechromo.org or contact [email protected] .

www.rarechromo.org 3 GROUP NEWS Unique Garden at Hampton Court Palace Flower Show You may have heard about our exciting plans for a Unique Garden at the Hampton Court Palace Flower show this summer. It’s a brilliant opportunity for us to raise awareness about rare chromosome disorders.

chromosome disorder. We felt utterly alone. It is so important that we raise awareness not only among professionals involved in our children’s care but among members of the general public so our families do not feel isolated. The Unique show garden will help us reach out to a new audience, not only those visiting our garden but potentially thousands of people watching on the TV and reading the press. So I am kicking off the appeal by donating £200 in my darling Jenny's memory. If you are able, please do join me.” We suggest a minimum donation of £10 (GB pounds) but any donation to sponsor a plant, however large or small, will help us reach our goal. Everyone who does so will be recognised (with their reason given for donating) on our website and in a special feature we are planning for the Unique magazine. We are also exploring other ways to recognise those who support this The Royal Horticultural Society liked the design of the appeal. Please let us know if you would rather garden so much that they decided it would be upgraded remain anonymous. If we are fortunate to a show garden, occupying one of the premier sites on enough to exceed our target, the additional the showground! This means more space for the garden funds will enable us to continue our and importantly that more of the visitors will see it and general awareness raising be made aware of rare chromosome disorders activities. and Unique’s work. To sponsor a plant please www.rarechromo.org and click Donate The garden design is based on the DNA double helix (and the Now, then scroll down to ‘Make A Donation Online’. You’ll notice Unique logo). It reflects the journey families begin when they there is a ‘Reason for Donation’ drop-down list so please select receive a diagnosis of a rare chromosome disorder as the paths ‘Towards the Unique Garden – Hampton Court Palace’. Please run from one end of the garden to the other. There is a special use the space in the box provided to tell us why you are donating shaded area in the middle, representing Unique’s aim to bring and this is what will appear when we recognise contributors. those together who face similar challenges. If you have any questions, would like some more information or if It has been designed by Catherine Chenery, graduate of the you think your employer would be interested in sponsoring the London College of Garden Design and Barbara Harfleet who has Unique garden, please contact Craig or Caroline on designed planting schemes for gold-medal winning gardens at [email protected] or [email protected] or call us the Chelsea and Hampton Court Palace Flower shows. Catherine on 01883 723306 . and Barbara are giving their time for free and many of the We are extremely grateful to the Lord Leonard and Lady Estelle materials are being very kindly donated, free of charge. Wolfson Foundation and to Trans Global Freight Management Sponsor a Unique Plant Ltd for their generous financial support to help make the Unique garden a reality. We would, love for as many of you, our members, supporters and friends as possible to be involved in making the garden a reality and we are now asking you to please consider supporting our ‘Sponsor A Plant’ appeal. You may want to do this in honour of a loved one, perhaps your son, daughter or another family member who has a rare chromosome disorder, or just because you want to help us to raise awareness. Lots of you have already donated and your reasons and we would like to say a huge THANK YOU! Some wonderful reasons for donating have been given and everyone who has made a donation has been listed in a special article on the Unique website. Unique’s Chief Executive Officer Beverly Searle started the appeal donations off in memory of her beloved daughter Jenny. Beverly said: “I remember only too well the blank expressions on people's faces when I told them that Jenny had a rare www.rarechromo.org 4 GROUP NEWS WELCOME TO THE BIG BLUE BAKE KIT! Cake sales are one of the most popular ways to fundraise for Leonie Tayler, a self-employed graphic Unique. So we’ve put together a free downloadable cake sale designer specialising in work with the kit filled with everything you need to make your cake sale a charity and not-for-profit sector got in success and help you make it truly unique. To download your touch via the website Pimp My Cause and kit, please visit the fundraising page on our website offered to do some pro-bono work for us. www.rarechromo.org or contact [email protected] . Leonie has done a fantastic job designing ‘The Big Blue Bake Kit’ for Unique. ‘Working as Eltaria Design, I now work primarily with charitable and community interest organisations and can offer branding, strategic marketing, print design, logo design, digital graphics, communication strategy, layout design, audience research and infographics. If you are interested in working with me, please get in touch at [email protected] or visit my website www.eltaria.com ’. Awareness Week Logo A class of graphic design students at Rider University in the US, led by The kit contains: Professor Mary Boyer worked on the • Event poster Awareness Week logo for us. We • Recipe cards x6 decided upon a design by Drew Sidman. • Bunting for decorating ‘Working on this logo was a fun your cake sale challenge. Seeing as Unique is mostly about children, I wanted to • Mini bunting for decorating create a logo that was fun and playful. I had your cakes also seen the idea of using a chromosome • Rice paper toppers for cup • Plate decorations as a person before so I decided to try my cakes and biscuits • Unique info card own version of it. I’m pleased with how it • Cake flags • Price labels came out and I think it accurately • Cup cake wrappers • Collection box represents Unique and what they do.

Devon and Cornwall Regional Family Day – May 2015 We are delighted to announce there will be another Regional Lots of families have gone on to form informal, mutual Family Day following on from the success of the three we ran support networks after these events, meeting each other last year. locally on a regular basis. One parent said: ‘Such an invaluable opportunity to meet families and share stories, no- The event will take place at Exeter Racecourse on Saturday one other than a special needs parent can understand the 9th May 2015 and will be for Unique members living in Devon daily challenges another special needs family faces!!! This and Cornwall. The racecourse is an accessible, disability- was my favourite part of the day to meet and chat informally friendly venue with ample car parking. and not feel like you or your child needs an explanation… The day will start with a buffet lunch for the adults and Huge Thank You X’ lunchboxes for the children. It will be a chance for families to We are very grateful to all the Trusts who have supported relax and meet with each other whilst the children are Unique and this event: The Clare Milne Trust, David Gibbons entertained by a local children’s entertainer and face painter. Foundation, The Duchy Health Charity, The Norman Family A team of Laboratory-based geneticists will also be joining us Charitable Trust and Sir Jules Thorn Charitable Trust. from Exeter Genetics Service to give special demonstrations We will be sending out further information shortly and of Genetic testing and will be on hand throughout the event to look forward to meeting lots of you at the event. To answer questions and provide guidance on whether further express an interest in attending, please email testing might be helpful. [email protected] .

Families learning and enjoying their time at previous Regional Family Days.

www.rarechromo.org 5 Winter can be something of a ‘chilly’ time for charities in terms of fundraising, Samantha Williams contacted us to say that their family as many of the traditional fundraising events (running, walking, swimming etc) nursery school, the Green take place during the slightly warmer months. That hasn’t stopped some of Door Nursery in Bristol, had our members and supporters coming up with some creative ideas to support decided to make a donation to our work over the past few months. Unique instead of sending Christmas cards. Lenka Vicky Welton, whose nephew collect a leaflet and buy a Isobel Leaviss, Auriol Herford Grainger raised money for Elliott has a rare chromosome cake. I was truly humbled by and Sophie Sainty organised Unique, ‘a charity close to her disorder has her own blog the amount of generosity the annual Winter Fayre, with heart’ in October by staying ‘Verily Victoria Vocalises’ and given. The day was manic from Unique being one of the sober, going without an decided to run a giveaway in 8am –3pm, Charlie’s story charities to benefit from the alcoholic drink for 33 days and the run-up to Christmas and spoken and picture admired proceeds. There were arts and Mairi Leitch was one of ask those entering to make a many a time but it was all crafts, bric-a-brac and art several members kindly donation. Victoria explains: ”I made worth it when it came to activities for the children. helping us out by selling have been very lucky with the counting up the profits, £516 Local estate agents Philip Unique merchandise opportunities my blog has which was matched by Wooller kindly sponsored the (keyrings, wristbands and pin given me and now, as well as Barclays – £1032 raised for event. badges). Unique in total. I am so hosting a number of Debby Stott (mum to Evie who In Hampshire, Leon Hinds did giveaways, I would like to grateful for the support and has a 4q ) and her a 12 mile ‘Tough Mudder’ make part of the optional guidance the Unique group husband took part in the Santa endurance run, testing entries a chance for people to have given me since our Dash 5k in Liverpool in himself to the limit to raise donate to my charity of choice, diagnosis. I hope to do many December. Debby said it was funds for Unique and Jon Hart Unique”. Thanks Vicky! more sales so they can keep “hard going in the cold wind did a similar event to supporting families just like Ruth Marshall, mum to on the Liverpool docks but fundraise. Esther Jones mine”. Fantastic effort Ruth, Charlie (17p13.3p13.2 went really well and lots of whose friend has a child with thank you! duplication) held a successful people asked about Unique”. a microdeletion on cake sale and raffle in Also in the pre-Christmas chromosome 16, ran a 10k in December. Ruth says: “I was period, Dyl Edwards , Nottinghamshire. She chose inundated with raffle prizes grandmother to Tilly, held Unique as she says we are a ranging from halogen ovens to craft stalls at the Shifnal charity close to her friend’s electric toothbrushes and (Shropshire) Christmas fair heart. In Bedfordshire, staff smellies galore! Everyone at and at Apley Wood School, and customers at the Plough work was very supportive as both to support Unique. Dyl’s in Langford held a raffle. they have met Charlie several stall is pictured: Unique was suggested a times when I have brought beneficiary by Maxine and him into the office. So the Dale Godfrey , grandparents of baking commenced and my Lewis Preuss who has a rare goodness they were good. chromosome disorder. Before I could even set up the Stephen Warrior , Uncle to stall I had been given several Michaela who has 2q37 donations, no cakes needed, deletion and his brother, no raffle tickets purchased, completed a Skydive to raise just a generous donation awareness and funds as the given. People who I didn’t Arts and crafts were also the family had been grateful for know in the building were order of the day at Kite Two ‘Unique Santas’ were spotted in the support they received coming to hear Charlie’s story, Studios in West London, where Liverpool! when Michaela was first diagnosed. Lorraine Helmn Ruth’s Cake Sale and Raffle with photo of Charlie did the London to Brighton cycle ride, ably assisted by her friend Tina Dodd. Lorraine and Tina are pictured with their medals at the finish.

www.rarechromo.org 6 FUNDRAISING

Kris Procek, right, receiving the On a sporty theme, Daisy London South Event. Kate And this is India… cheque from Syngenta. Hudson , sister of Charlie who writes: “although being Julie Lewis, whose daughter has a rare chromosome electrocuted by wires whilst Maisie has 1p36 deletion, disorder, arranged a non-stop crawling through the mud, arranged for some fundraising 12 hours netball with fellow jumping into a 1°C ice bath to be done at their nursery. students in the Netball Society and tackling gruelling terrain The children collected money at Manchester Metropolitan wasn’t high on our Saturday in Smarties tubes, raising University. Daisy says it was morning relaxation wish lists almost £50! Julie says that great fun and even though it we worked together as a team she chose Unique because we was tiring, everyone was really to make sure everyone made it are a charity close to her enthusiastic and kept going to the end in one piece to heart. for the whole 12 hours! receive our t-shirts, headband Here is Wendi Leech from A number of you have been and well needed beer! Our Robert Leech Estate Agents fundraising at work. Sally friends, families and handing over the first cheque Evans and colleagues at the colleagues thought we were for £100 on completion of NHS Redditch and crazy and some had their property sales in December to Bromsgrove Clinical doubts that we’d commit to Caroline. Unique is one of Commissioning Group held a the event so to show our their chosen charities they are Valentine’s raffle, with one of determination we added a supporting. the team even shaving off his fundraising element to the Elsewhere, Alan Haywood ran beard to fundraise! David Ellis challenge. Our fundraising the Royal Parks Half received an award from his included sponsorship from Marathon, raising £1,000 and employer, Corbis , for long some of our suppliers just to was able to get some Matched service and was able to see our manager (Shahid) get Funding from his employer, choose a charity that the muddy as well as our less BP . Catherine Pitcher, Diana company would donate to. He crazy work colleagues who Potts, Charlotte Astill, Kim kindly chose Unique! Katy helped raise additional Raymont and Holly Smith also Shread , sister of our donations through cake sales, took part to fundraise for us in Information Officer Dr Sarah guess the name of the bear what is becoming a popular Wynn , works at Sanofi and guess the number of and prestigious event. Kim Pasteur MSD and nominated sweets in the jar. These Collen ran the Surrey half Unique to receive a Christmas activities were organised by Marathon and is also going to donation. We were also be running the Hampton Court (Unique member and mum to mentioned on their electronic Half Marathon to raise funds. Thanks to the votes we India – also pictured) Marie Christmas card, sent to their received from Unique Adams , who has been a great Diane Johnston works for clients – great for awareness- members we won £300 from help to the team. Syngenta in Scotland who ran raising. an internal competition and the Galaxy Hot Chocolate The company’s ‘Healthy Hope’ Back in October, Kate Hill and asked staff to nominate a Fund in November. charity fund also provided colleagues Raj Banwait, charity to receive a donation. Lastly, a special mention for sponsorship for the team and Shahid Arif, David Haddon As one of the winners, Diane Lucy Roberts , whose brother the overall total raise was a and Shaun Galletly at NBTY nominated Unique. Local has a 22q11 duplication. Lucy brilliant £2,512.64! Europe braved the elements member Kris Procek gave a presentation about and complete the 12 mile, 24 Pictured below is the team in represented Unique at the Unique at school to ask fellow obstacle Tough Mudder action. cheque presentation. students to choose us as their charity of the year. Thank you Lucy – that’s very brave of you! Remember, if you’d like to fundraise for Unique, drop us a line. Just call Craig or Caroline on 01883 723306 or email [email protected] or [email protected] today! www.rarechromo.org 7 were able to raise a handy AU$360 for Unique.”

LOVE OXTED family business, C Pike Ltd, kindly rounded the total up to Christmas Festival Charlie is pictured during the garage £1,000, with the money split sale. Unique had a stall at the LOVE between Unique and Kim Kinsella in South Africa OXTED Christmas Festival on Alzheimer’s. has also been working hard to Saturday 6th December, Emma Peters, mum to Ellis, raise funds by selling our raising awareness and money Ryan Fisher and family from decided to do something Unique wristbands. Daughter through selling handmade Perth, Western Australia also similar for her wedding to new Jade is pictured modelling gifts which some of our came up with a novel idea for husband Kevin, giving each of them (we don’t think Jade members donated, ‘unique’ some fundraising. Ryan their guests a Unique pin wears all these all the time!). finger print Christmas tree writes: “a few houses on our badge as their favour. Emma decorations and ‘guess the little street took part in a says: “most of our guests weight of the Christmas cake’ ‘street-wide garage sale’. knew that Ellis had special Whilst we didn’t have much to which Beverly made. A big needs but they knew nothing thank you to everyone who sell, we expected plenty of about his chromosome traffic moving past our house contributed, it was very much deletion and they hadn’t heard and decided to take the appreciated and also to Robert of Unique. They all went away opportunity to set up a cake Leech Estate Agents who kept knowing a lot more about how stall and donate all the us topped up with hot drinks. much support we have proceeds to Unique. The highlight of the day was a received from Unique, every visit from Dame Judi Dench guest put their pin badges on Our son Charlie has 15q13.3 who very kindly donated and and even when I see some of and bought a couple of bits from whilst he is essentially them now they have it pinned Finally, Chris Bowers, the stall. asymptomatic and we do not to their jacket or bag!” landlord of The Saddlers pub require any support, we Sam Williams wrote to tell us Warmest congratulations to in Shrewsbury, got his band acknowledge how important it about a very special day for Jenna and Matthew and back together to hold a music was at the time of his her friends, Jenna and Emma and Kevin. gig. The band are called ‘They diagnosis to be armed with the Matthew Elms . Jenna and Went To Portugal’ and the gig Unique brochure and to be put Matthew were married on raised money for Unique 22nd November 2014 and in contact with other families charity because everyone in Sam’s daughter Florence was in a similar situation. This was the neighbourhood had been a flower girl. They created a a tremendous help as a tool so touched by our young “how long will the speeches for understanding exactly member Ruby Cotton. last?” game and everyone what we were dealing with and made a donation to enter and of particular relevance as we a total of £300 was raised. The were currently trying for our second child and had to decide whether this was something that should be screened out (via PGD). Charlie was incredibly excited to set up his first lemonade stand, although his attention lasted only a matter of minutes and we ended up selling more lemons than lemonades! He looked mighty cute while he was there though and we have attached a photo. Thankfully, some Left to right: Steve Thomas, lead close friends and family singer and guitarist with the band They donated generously, in the Went To Portugal, nine-year-old Ruby form of cakes, biscuits, jams, who has Ring 14 Mosaicism, and landlord of The Saddlers pub in bric-a-brac and cash and we Shrewsbury, Chris ‘Porky’ Bowers. www.rarechromo.org 8 FUNDRAISING months to prepare, and was 5 days before her 8th birthday. I contacted the local newspaper and they ran a story on how she helps with Mark together with a piece about 16p11.2 Microdeletion, Mark’s diagnosis. By the day of the hair cut, we had raised our £150 total, and it was still going up. My cousin, who is a hairdresser, did the chop, and all her cheerleading teammates supported her, cheering and clapping. it was wonderful to see so much support we had. Amy Jorja had her brand new “big-girl” hair cut, the hair was gratefully received by the charity, and in the end we raised £337.58 for Unique, for a 7 year old girl simply having her long awaited hair cut. Amy and Mark appeared in their local newspaper.

“Mummy, I want to has a good heart, and a very matter of fact attitude. cut my hair!” I suggested donating the cut Laura Peacock’s son Mark has hair, explaining it would help a rare chromosome disorder. Here Laura tells us about other children who lose their some recent fundraising done hair because they are poorly, her daughter Amy Jorja: and she agreed that would be “Mummy, I want to cut my best. after all she had so hair!” This was a phrase that much hair, it would only go in was beginning to get more and the bin otherwise. more frequent. We had After thinking for a while resisted it for a few years now longer I asked her if she would and each time we had said not like to do a sponsored hair cut. yet, it had been taken well and We would take the next few never a fuss. Now each time months to raise money, keep was beginning to cause a little her hair nice and clean and debate, so we sat down and tidy to give the donating place talked about the options. good chance to use it and we I didn't want my little girl to could raise awareness of cut her hair at all, but she Unique. After discussing it wanted it, and she was with head coach at Amy growing up. I told her about Jorja’s cheerleading team, we real world things all the time, set a date of Monday 10th and although she was still November 2014, the dress only 7 and understood only rehearsal for their next big what had been explained, she competition. it gave us 3 www.rarechromo.org 9 Santa Pola Half Marathon Julia Westlake took part in a half marathon in Spain in January, raising money and awareness for Unique in memory of her niece and husband’s – Emma and Andrew Whitehead baby, Hope Isabel. Santa Pola is a very pretty Old Spanish Town with a Moorish Castle in the centre, which is where registration took place on Saturday 17th January. We were staying in a villa in Gran Alicant, which is only about 10 minutes from Alicante airport and 10 minutes in the opposite direction from Santa Pola. Sunday at 7.30am was cold, frosty and icy in Spain and 0 degrees! As it was my first half marathon, I was rather nervous, but more about combating the cold (and needing the loo), than anything else. Luckily the sun came out, so the four spare layers I wore were soon dispensed with. As you can see from the pics, the course was partly along the beautiful sea front and luckily for everyone, you got to see it from both directions. It certainly helped you forget about the miles you were doing. The course was also pretty flat, which made running 13 miles a little easier. My husband Nick and two friends, Dave and Bob, were also running with us, though they were much quicker than I was. I finished the course in 2 hours 35 minutes and 33 seconds, which I was really pleased with (that included a loo stop) . I felt as good at the end as I did at the beginning☺, which I put down to the fact that I am a Dance Teacher and my legs are used to movement. Thank you Julia for choosing to support Unique, especially with such a chilly start to the race.

www.rarechromo.org 10 Medically verified information guides for families Available for these rare chromosome disorders English • 5p: • 11;22 translocation • 17q12 microduplications Microduplications of • 11q terminal deletions • Koolen de Vries syndrome • 1p interstial deletions 5p13 & 5p14 () (17q21.31 microdeletions) • 1p36 deletions • 5q deletions including 5q22 • Emanuel syndrome • 17q21.31 duplications • 1q duplications • 5q14.3 microdeletions • 1q21.1 microdeletions • 12p duplications • 18p deletions • 1q21.1 microduplications • 6p deletions from 6p25 and • 12q deletions • 18q deletions from • 1q4 deletions the end of the chromosome • 12q14 microdeletions 18q11.2 to 18q21.1 • Supernumerary • 6p duplications • Pallister-Killian syndrome • 18q deletions from 18q21 • 6q deletions between • 13q deletions including RB1 and beyond 6q11 & 6q16 • Ring 18 • 2p deletions • 13q deletions various • 6q deletions from • 2p duplications • 13q distal interstitial • 19p13.12 deletions New 6q13 & 6q14 • 2p15p16.1 microdeletions deletions • 19p13.2 deletions • 6q deletions between • 2p16.3 (NRXN1) deletions • 13q deletions including the • 20p deletions 6q15 & 6q23 New end of 13q • 20p duplications • 6q deletions between • 2q duplications • Ring 13 • Ring 20 Updated 6q23 & 6q24 • 2q23.1 microdeletion • 14q deletions between • 6q deletions from 6q25 • 21q deletions syndrome 14q22 & 14q32 • 6q deletions from • Ring 21 • 2q24.3 microdeletions • 14q deletions from 6q26 & 6q27 • 11;22 translocation • 2q32 deletions and 14q31 & 14q32 • 6q duplications • 22q11.2 deletions microdeletions • 14q deletions from • ARID1B syndrome New • 22q11.2 distal deletion • 2q33.1 deletions & 14q32.2 & 14q32.3 syndrome other deletions between • 7q deletions between • 14q deletions proximal • 22q11.2 duplications 2q31 and 2q33 7q21 and 7q32 to 14q22 • 22q12q13 duplications • 2q37 deletions • 7q proximal interstitial • 14q distal duplications • 22q13 deletions (Phelan • 2q37 deletions in deletions • Ring 14 McDermid syndrome) adolescents & adults • 7q duplications • Trisomy 14 mosaicism • Ring 22 • Ring 2 • 7q11.23 duplications • 14 • Xp11.2 duplications • 3p25 deletions Updated • 7q32q34 deletions • 15q deletions • 3p26 deletions • 7q36 deletions • 15q duplications • Xq28 duplications • 3q duplications • 4p;8p Translocations • 15q11.2 microdeletions Update in progress • 3q13 deletions & • 8p duplications • 15q13.3 microdeletion • 45X/46XY including Y microdeletions • 8p inverted duplication syndrome chromosome • 3q29 deletions & and deletion • 15q13.3 microduplications rearrangements Updated microdeletions • 8p23 deletions • 15q24 microdeletions • 47,XYY Update in progress • 3q29 duplications & • 8p23 duplications • 15q26 deletions • Disclosing about XYY microduplications • 8q duplications • Isodicentric 15 for boys New • SETD5 New • Supernumerary • Ring 15 • Disclosing about XXX • 4p;8p Translocations • 16p duplications for parents New • 4p duplications • mosaicism • 16p proximal deletions • 48,XYYY • 4q deletions between • Trisomy 8 mosaicism in • 16p11.2 microdeletions • 48,XXYY Update in progress 4q11 & 4q22 adolescents & adults • 16p11.2 microduplications • 48,XXXY • 4q deletions between • 9p deletions (Alfi syndrome) • 16p13 deletions • 49,XXXXY 4q21 & 4q22 • 9p duplications • 16p13.11 microdeletions • Pentasomy X • 4q deletions between • 9p24 deletions • 16p13.11 microduplications • Triple X () 4q21 & 4q31 • Kleefstra syndrome • 16p13.3 duplications and • Disclosing about XXX • 4q deletions from (9q34.3 deletions) microduplications for girls New 4q31 & beyond • 9q34 duplications • 16q deletions • Disclosing about XXX • 4q duplications • Ring 9 • 16q proximal duplications for parents New • X • Trisomy 5p: • • mosaicism Duplications of 5p15 • mosaicism • 17p duplications • Triploidy • Trisomy 5p: Trisomy 5p: • 10p deletions Update in progress • Diploidy triploidy Inverted duplication and • 10p duplications • 17p13.1 and 17p13.2 • ArrayCGH Updated deletion of 5p • 10q duplications deletions • Balanced insertional • Trisomy 5p: Duplications of • 10q22q24 deletions • 17p13.3 deletions translocations New the whole 5p arm • 10q25q26 deletions • 17q12 deletions • Balanced translocations www.rarechromo.org 11 • DNA sequencing (whole • 1q21 microduplications • 1q21 duplications • 16p11.2 microduplications genome and exome) In preparation • 1q4 deletions In preparation • FISH tests • 1q4 deletions In preparation • 3p deletions • Idic (15) In preparation • Inversions New • 2q32 deletions and • 4q deletions between • 18p deletions New • Robertsonian translocations microdeletions 4q21 and 4q22 • XXXY • Small supernumerary • 2q37 deletions • 6q deletions from q15 to q23 • Array CGH New marker chromosomes • 3p25 deletions • 7q36 deletions • 3q29 deletions and • Trisomy 8 mosaicism Portuguese In preparation microdeletions • 9p duplications • 2q23.1 deletion syndrome • 5p duplications • 3qter deletions • Trisomy 9 mosaicism • 2q37 deletions • 16p12.2 deletions In preparation • 11q deletion disorder In preparation • 17p13.3 duplications • 4p duplication Jacobsen syndrome • ArrayCGH New • 19p13.13 deletions • 5q deletions including 5q22 • 13q deletions various • 19p13.3 deletions • 6p duplications • Idic 15 Romanian In preparation • Koolen De Vries syndrome • Array CGH Arabic • 6q26 & 6q27 deletions (17q21.31 microdeletions) • Balanced Translocations • Array CGH • 7q11.23 duplications In preparation In preparation • 8p Inverted duplication • Ring 18 Danish and deletion • 20p duplications Russian • 22q13 deletions (Phelan • 8p duplications • Ring 22 • Trisomy X New McDermid syndrome) • Trisomy 8 mosaicism • Pentasomy X In preparation • 9p deletions • XYY Spanish • 1p36 deletion • Triple X • Trisomy 9 mosaicism • XXX In preparation • 1q21.1 microdeletions • Array CGH • 10q25q26 deletions • Array CGH New • 1q21.1 microduplications • 11q deletion disorder • Robertsonian translocations In preparation (Jacobsen syndrome) • Small supernumerary Dutch • 2q23.1deletion syndrome • • Pallister Killian syndrome marker chromosomes • 2q37 deletions New In preparation • 13q deletions • 3p25 deletions • 1q21.1 deletions • Ring 14 Greek • 3p26 deletions In preparation • UPD14 • Array CGH • 5q deletions • 1q21.1 duplications • Ring 15 • Balanced Translocations • 7q11.23 microduplications In preparation • Idic 15 • 7q duplications • 15q deletions In preparation Italian • 2q37 deletions • 8p23.1 deletions • 15q duplications • Inv dup del 8p In preparation • Trisomy 8 mosaicism New • 16p11.2 deletions New In preparation • 3p25 deletions • Trisomy 9 mosaicism • 16p11.2 duplications New • Idic 15 In preparation • 9p duplications • 17p duplications • 18p deletions • 3q29 microdeletions • Kleefstra syndrome New • 17q21.31 microdeletions • 18q deletions from • 4q duplications • 10q25 & q26 deletions • Ring 18 18q11.2 to 18q21.2 • 7q11.23 duplications • 11q deletion disorder • 22q13 deletion • 18q deletions from In preparation Jacobsen syndrome • Ring 22 18q21 and beyond • 8p23 deletions • Idic 15 In preparation • • Ring 18 In preparation • 15q13.3 duplications • Pentasomy X • Array CGH • 8p23 duplications In preparation • 49,XXXXY In preparation • 16p11.2 microdeletions • 48,XXXY Polish • 9p deletions • 16p11.2 microduplications • 48,XXYY • 1p36 deletion • Trisomy 9 Mosaicism New • Array CGH • 1q21.1 microdeletions In preparation • 16q deletions In preparation • Robertsonian • 7q11.23 duplications • 11q deletion disorder • 17q12 microdeletions Translocations In preparation (Jacobsen syndrome) • 16p11.2 microdeletions • 17q21.31 microdeletions • 15q11.2 deletions German In preparation • 18q deletions from In preparation • 1q21 deletions 18q11.2 to 18q21.2 • Idic 15 In preparation In preparation • 18q deletions from • 16p11.2 duplications 18q21 and beyond In preparation • Emmanuel syndrome New • 16p13.11 deletions • 22q11.2 duplications In preparation In preparation • 18p deletions • 22q13 deletion • 18q deletions In preparation • Triple X • 22q13 deletions • 45x/46XY New • Tetrasomy X • 48,XXXY • 49, XXXXY French • Array CGH • 1p36 deletion • Balanced Translocations • 1q21 microdeletions • Balanced translocations

In preparation February 2015 www.rarechromo.org 12 1q21.1 Microdeletion age (4 years old), has had feeding issues, has Derek: aged 7 years ‘1q4 Deletions – Family Support’ overlapping toes, and an extra David: aged 4 years Michelle Pram, one of our New Zealand local contacts, tear duct. He has ADHD, is a writes: For those Unique members who have a child with a Amy Dennis sensory seeker, and is being 1q4 deletion. We have a Facebook group called ‘1q4 treated for a mood disorder. Deletions – Family Support’ that you are welcome to join. Like Derek, David was also When you request to join, you will be sent a message recently diagnosed with requesting more information by an admin member (to asthma and obstructive sleep respect the privacy of our group). (NB: please check your apnea and sleeps on an APAP ‘other’ folder too!). Our group has been growing in machine. Though he has a membership lately and we have a lot of worldwide slight hearing loss from members so lots of knowledge to share along with support, repeated ear infections and etc. Please feel free to join using this link speech articulation problems, www.facebook.com/groups/133964299961835/ . his language is very good. He’s A big thank you to Liam Mulcahy, Ireland (parent to wee very creative and imaginative angel Sophie, 1q43 deletion) for all his work in making the and gets into all sorts of group’s new logo possible! The 1q4 Family international mischief. logo was inspired from a little artwork made by Adam, NZ (1q44del/5q34q35dup) (with help from Mum). 1q21.1q21.2 And thank you too, to the 1q4 Family for your input in Derek is continuing to make Microduplication making this logo real! good progress. His speech Thomas: aged 3 years articulation improved from a 3 Alfie: aged 4 years was sick and had nasal reflux us. We were referred by our year old level last year to a 6 Lisa Cox (food and milk often ran out of health visitor for a hearing year old level. He’s working E: [email protected] his nose). At around 1 year we assessment. He passed the hard in speech therapy to had videos of him saying ‘bah first (but had obvious overcome a severe language humbug’ at Christmas but he disorder and mild stutter. He is eustachian tube dysfunction was still struggling to sit up. also receiving Occupational on his tympanogram), but not However, shortly after we Therapy to improve his motor satisfied, we took him for a found that he was no longer planning and speed. private assessment. During saying as much. Academically he is doing well this assessment it was felt and reading books is one of his Alfie was very late sitting up that Alfie was unable to hear favorite activities. He was and had only begun to pull up anything under 60 dB. We diagnosed this summer with and bum shuffle at arranged to see a private ENT ADHD and the medications he approximately 15 months. He surgeon. He diagnosed glue takes have really helped with began to start walking at ear, large tonsils and processing. This summer around 2 years old. As he was adenoids. He had surgery Derek was also diagnosed with a chunky lad (always on the shortly after his third birthday asthma and obstructive sleep 98th percentile for weight) we (bilateral insertion of apnea so he sleeps on a CPAP were told by health care grommets, tonsillectomy and machine. By the time Thomas was born professionals to stop worrying adenoidectomy), we were reassured that within a few Last Spring I received the we began to have concerns because he had extra weight to results of my younger son about Alfie. Alfie was born by carry! weeks he would be talking, David’s FISH test which C-section in 2010. He was a So when Thomas was born, and was already under the confirmed he has 1q21.1 very demanding feeder and Alfie was around 18 months speech and language therapist microdeletion like his brother readily gained weight. He had old. It was difficult to deal with being assessed. Derek. Because he has always a tongue tie that was resolved them both initially because I When Thomas was born I was met and surpassed all his shortly after birth. He fed had a C-section, Alfie was incredibly worried that there milestones, the geneticist was beautifully, but very frequently. fairly heavy but unable to walk. was something wrong, and positive he did not have it and He was weaned at 6 moths We were worried that his was told by family that this was very surprised. The effects and we found that he would speech was very poor and that was probably due to my are mild. He is small for his often continue eating until he he often did not seem to hear difficult pregnancy (I had www.rarechromo.org 13 seen by a paediatrician and The best thing about our boys We need your letters for the next she asked if she could do is that when they smile, it is some genetic tests and she like the sun has come out. edition of the magazine! was really quite concerned. They really try to talk and often Come on everyone – please do get writing about your About a month later (17th get frustrated with us stupid children or yourselves for the magazine! We love to receive March) we were called and adults and both Alfie and Tom letters and photos from any families within the group. If given Tom’s diagnosis of cite the other as their best you would like to include a piece in the next edition of the 1q21.1q21.2 microduplication friend. magazine, please send your article to Beverly by 30th June over the phone. We were Tom currently has about 50 2015 . If at all possible, please send your article by email devastated again but sought to words, uses no verbs, but we ([email protected] or [email protected] ), find out as much as we could can understand him. Alfie’s preferably as a Word document attachment; this is by far so we could support his speech is quite slurred but his the easiest way for us and saves us a lot of work typing up developmental and learning vocabulary is slowly your letter. However, if this is not possible, please send needs. This explained quite a developing. Again we can your article by post (Unique Magazine, G1 The Stables, few of his difficulties. He has understand him but he gets Station Road West, Oxted, Surrey, RH8 9EE, England) . autistic type behaviours, does frustrated if people cannot Please make sure you make it clear that the article is to be not sleep and can be quite make out what he is trying to published in the magazine by writing “FOR THE challenging at times. He has say. They are both extremely MAGAZINE” across the top of the article. Please send no obvious realisation of loving and we love them both photos by email, preferably as a jpg file attachment. danger, stranger awareness dearly. We have lots of giggles Otherwise, you can send photos by post but please write and we have to constantly despite the past year of your own name and address and your child’s name on the monitor his every move. heartache (it truly has felt like back of the photo and state whether you want the photos a double bereavement). We returned to you. Once I have received your article I will Last month we went to see the have to have our wits about us send you a magazine permission form to complete, sign paediatrician about Alfie and when we are out and about as and return to me; I can’t include your article or photos explained his difficulties and they are incredibly accident without receiving this form. Many thanks! that, like Tom, he presented with autistic type behaviours. prone and will run off without Beverly Searle She asked about genetic team looking back. They have no Unique’s CEO feedback, but we explained awareness of stranger danger that we had not yet seen them. and as you can imagine this worries us too. Tom does not polyhydramnios (10 litres of that something was quite When I chased up the sleep! He has melatonin and amniotic fluid) and gestational wrong and referred him for appointment I was told there sleeps for approximately 3 –4 diabetes). I was constantly paediatrician assessment. was a 60 week wait! She asked if Alfie had been tested, and hours with melatonin. He asking people if he seemed Our speech and language then asked permission for him spends the rest of the night OK. He had a posterior tongue therapist was a real life line to be tested. We agreed and with confusional arousals, tie that initially interfered with during this time. She today (8th January ) we found regularly shouting out or wide breastfeeding and fed (like acknowledged that although out that Alfie also has the awake. Alfie) regularly. He, like Alfie, Alfie had surgery 2 months same microduplication I have had to reduce my cried a fair bit but we assumed previous that his speech and (although his is larger). working hours to part time as that was normal as we had language had not significantly little other reference than our improved, and that Tom was own children. He gained showing very atypical weight well, but did not sleep behaviour. She was sending well. emails left right and centre It was shortly after Alfie’s and was always willing to surgery that we began to listen to our concerns about realise that Tom had dropped both boys. all eye contact, that he was Worried, we went back to non-verbal, and generally Alfie’s ENT surgeon for quite unresponsive. Despite assessment and he finally this he was physically concluded that Alfie had a extremely capable. We asked significant speech and our health visitor for a referral language disorder. Devastated to the paediatrician; initially we started to look into we were made to feel that we statementing for school. He were over-reacting and were was formally assessed and is again referred for hearing now in a fantastic supportive assessment and speech and mainstream school with a language therapy. The hearing lovely male teaching assistant test showed that he too had for 27 hours a week. He has eustachian tube dysfunction. weekly SALT input and has The speech and language settled really well. During the therapist agreed immediately statementing process Tom was www.rarechromo.org 14 a result. We are still waiting to something wrong. He was see the genetics team. Both shocked that Leo had not boys need a OT assessment as already been seen at the they are prone to falls, and hospital and said there was Alfie also struggles with fine clearly something very wrong. motor control. Alfie is having I felt some relief at that point, ongoing hearing assessments someone was listening at last. and we have been told that he The next few months were an may need hearing aids at anxious wait for results and some point until his glue ear learning a new way of caring finally resolves (his grommets for my baby with a feeding have fallen out and they will tube. Just before his first not do a reinsertion). birthday he was diagnosed with 6 and Deletion 7q21.3q22.3 more tests ordered. Whilst Jake Turley: aged 19 years there was little known about Penny L Richards the condition, they said that he E: [email protected] would probably not talk, walk Jake Turley’s always having or do other things that “normal” children could do. fun! His Halloween costume pinwheel propeller even almost 10 and has a diagnosis They said he may not even for October 2014 was a worked! The costume was so of Ring Chromosome 6. When survive. I was in shock and had submarine worthy of Jules popular that we used it again he was first born he was not to come to terms with having a Verne. We made it with for a Christmas parade. diagnosed with anything but it disabled child to care for, as cardboard, duct tape, spray soon became clear that he well as his older brother. paint, and a lot of extra bits Ring 6 wasn’t well. He had no interest and pieces (a candy tin, a salad Over the years Leo was Leo: aged 10 years in feeding, hardly slept, didn’t bowl, some bamboo skewers, like to be held and was very diagnosed with various Penny Allsopp wallpaper samples, a lot of uncomfortable in his own skin. health problems, dilated E: [email protected] cardiomyopathy, immune bottle caps and twist-ties). It He was regularly poorly and I deficiency, hypermobility, was attached to his wheelchair I’m writing to tell you about my was exhausted. Health visitors Autistic spectrum disorder, with two strips of velcro. The amazing son Leo. He’s aged 9, and the GP just said he would hearing and visual problems to catch up and there was name a few. He started to nothing to worry about. I receive help and support Books Beyond Words thought I was doing something which was invaluable. I had to Books Beyond Words has been written by Baroness Sheila wrong and became depressed. take a career break from my Hollins, whose own son Nigel has learning difficulties. It Then when he was nearly 9 job to look after him, there was uses pictures to tell stories to help people with learning months old, he was very poorly no choice. I had no idea how disabilities understand better. The books include subjects and his lips were blue. I he would progress or how long on how to look after yourself; going to the doctor/hospital, decided to take him to the he would survive, I had to look etc. Some of the titles are available as ebooks as well as hospital and demanded that he after him. He started to attend paperback from www.booksbeyondwords.co.uk . On was seen and assessed a local special needs school Tuesday 13th January, crowds of people gathered at properly. The junior doctor aged 4 and that was the best Sadler’s Wells Theatre in London to celebrate 25 years of tried to tell me it was teething. thing ever. It is such an Beyond Words and the launch of the latest title (number I knew it was more serious amazing school and he loves it 45!) in the Beyond Words series of books, The Drama than that. He was admitted to there. He is nearly ten and Group . The book, co-authored by actor Hugh Grant, a children’s ward and it all doing so well. He had surgery Baroness Sheila Hollins and her son Nigel Hollins, tells the went from there. Tests and last week and was so brave. story of Dean who loves going to the theatre and decides to investigations began. He was He gets very scared of medical join a drama group. The book can help encourage those given a NG tube for feeding. who'd like to give acting, or backstage roles, a try. Read interventions, not surprisingly, The consultant diagnosed him more about the book and order your copy here but tries really hard to with failure to thrive, a horrible http://booksbeyondwords.co.uk/bookshop/paperbacks/dr overcome his fears. He has a ama-group . term that reinforced my feeling gastrostomy button for feeding that I must have done but slowly slowly is beginning Some people were also lucky enough to have the opportunity to see a play, based on The Drama Group , performed by 25 people with learning disabilities from the Baked Bean Company (www.acttoo.com/bbtc.html) and with a guest starring actor and co-author Hugh Grant. The play was a sell-out and both performances were a huge success, receiving standing ovations on both occasions. To watch BBC London’s coverage of the play, follow this link www.bbc.co.uk/news/uk-england-london-30806609 . www.rarechromo.org 15 to eat small amounts of food numbers would mean to us. and he is growing and We were told that Azariah developing at his own pace. could have moderate to severe I really don’t know what the mental retardation, epilepsy, future holds for him but he is seizures, hearing loss, such an amazing, happy, funny hydronephrosis, eye and inspirational little boy. He abnormalities, facial loves Doctor Who, Minecraft deformities and feeding and Skype-ing his friends from issues. We were then told school. Our lives have been that Azariah has a very had the meeting. I will never there is no one known to have hard but most definitely irregular heart rhythm and forget going into that room his 8q deletions and they could enriched because we have was diagnosed with prolonged waiting for the geneticist and not tell us anything about him. Thanks to Unique for the QT syndrome of the heart. That the other doctors. The those deletions as they are so invaluable information, means that there is a geneticist proceeded to tell us rare. I was in shock with all of support and opportunity to link prolonged pause between the Azariah’s findings. He has what I was being told. I could with other families. I actually recharge of his heart and it is numerous large deletions not believe that my sweet boy’s never thought I would meet extremely dangerous. It is the inluding 7q34q36.3, 8q21.3, future could hold such pain anyone else with this condition main cause of sudden infant 8q24.22q24.23. Little did I and suffering. As I went back but thanks to Unique and the death. They immediately know at this point how to his bedside in the NICU I Facebook groups, I am now started him on 2 different beta significant these letters and just held my son and cried. communicating with two blockers. They also found a families around the world, small hole in his heart. which is just fantastic. Azariah failed 3 hearing tests and was diagnosed with Care and support in England Deletions 7q34q36.3, profound hearing loss. We From April 2015, care and support in England is changing 8q21.3, 8q24.22q24.23 were told his hearing loss was for the better. The new Care Act will help make care and Azariah: aged 6 months related to his prolonged QT support more consistent across the country. The new national changes are designed to put you in control of the Angela Smilovici syndrome and that they do not help you receive. Any decisions about your care and E: [email protected] expect him to regain hearing. A few days later they found support will consider your wellbeing and what is important My son Azariah was born at 36 that he had dilated kidneys. It to you and your family, so you can stay healthy and remain weeks with IUGR (in-utero was just one thing after independent for longer. Some changes will be introduced in growth retardation) weighing another and we just wanted April 2015 and others in April 2016. 4lbs 11oz. I had a very difficult answers and to have our sweet In April 2015 we will be introducing: pregnancy from the start and boy home to smother him with • a new national level of care and support needs to make had a lot of questionable all the love and care that he care and support more consistent across the country markers. Azariah was sent to deserved. • new support for carers the NICU 24 hours after he • deferred payment agreements for care costs was born because he was Azariah’s NICU doctor stopped turning blue, unable to my husband and me on our As part of the 2016 changes, there will also be more regulate his temperature and way out of the NICU one day financial help for those who need it and people with unable to feed. I cannot tell and said “I just want you to modest means will benefit too. There will also be a new you what it was like to see my know that some of the testing form of protection from unlimited care costs. son incubated with all these came back and we have The reasons for the changes machines and IVs hooked up to answers for you. There are As people are now living longer and with a better quality of him. I also cannot begin to certainly some abnormalities life, the care and support needs they have are different. explain that being unable to in which he is missing The way care and support is provided has to change to hold my son until he was 5 chromosomes but I want to reflect this. A new Care Act has been passed to make care days old was the extremely wait to discuss them with you and support, and the way we pay for it, clearer, easier to painful. when the rest of the tests access and more consistent across the whole of England. Azariah was immediately come back”. I had no idea People affected by the changes diagnosed with . what he meant by missing You may benefit from the changes to care and support if Right away the doctors in the chromosomes and I did not you: NICU felt there was something understand how that was even • receive care and support from your council or another not right. They told us because possible. My heart sank to organisation, either at home or in a care home of his extremely small head think that my perfect sweet • give unpaid care and support to an adult family member and low set ears they will be boy was incomplete. Two days or friend sending off bloodwork for later they came to us and told • think you may need care and support in the near future, genetic testing, specifically for us the final tests are in and either for yourself or for someone you help that they are arranging a a microarray test which would For more details visit the UK Government website at family meeting with all of take a few weeks to get the www.gov.uk/government/publications/care-and-support- Azariah's specialists to results back. That was the whats-changing/care-and-support-whats-changing . discuss the findings. longest two weeks of my life. Source: gov.uk website They also immediately found Day 28 into his NICU stay we www.rarechromo.org 16 Cried as I was grieving the about Azariah and they are news I just heard, cried playing a huge role in helping Children and Young People with because I just wanted my son our son thrive. I also cannot to be healthy and I just wanted begin to say how thankful I am Complex Health Needs – A one-stop him home, but my thought for unique, I have met many booklet for families earlier that he was incomplete other parents through unique Written by the Foundation for People with Learning had quickly changed. He was and it is truly the main support Disabilities, the aim of this booklet is to offer information perfect. He was created the group that I have. and routes to support of a practical nature, which they way he is for a purpose and it hope can improve the lives of children and young people makes me fall in love with him Duplication with complex health needs. It can be downloaded free of even more. The charge nurse 10q23.32q25.3 charge from www.learningdisabilities.org.uk/ came to us shortly after our Wolf: aged 2 years content/assets/pdf/publications/children-young-people- meeting and asked us if we complex-health-needs.pdf?view=Standard . Katharine and Justin Bagnati wanted to learn how to take E: katiebutternutsquash care of Azariah’s feeding tube @gmail.com so we can start the process of parents of children with Therapy, Occupational getting him home. Um of similar chromosome Therapy, and Speech Therapy. course we did! anomalies and a 30 page PDF When she turned 2 we were from a non-profit called We quickly began to learn able to find her a school that Unique out of the UK. We were how to place in his NG tube, caters to special needs overwhelmed! how to flush it, how to check children. She is able to go 2 placement, etc. We stayed the Fast forward, Wolf Grace is days a week. Included in the night at the NICU to do one on approaching her 3rd birthday. program is Aqua Therapy one care for him. At 30 days Looking back on all the which has been great for her. into his NICU stay we were specialist appointments, She is the size of a 1 year old, finally bringing our sweet boy therapies, and illnesses, she active as an 18 month old, and home! We were so thankful has had X-rays, ultrasounds, age appropriately, a spunky and blessed to be able to have and an MRI. She has had and fierce toddler. She smiles, our sweet boy home! oxygen therapy and sleep laughs, sits up, crawls, climbs, studies, as well as, an EEG. and slides. She is non-verbal Caring for Azariah and his She has kidney cysts that are for the most part, her one feeding tube was a challenge. I have been thinking back on monitored every 6 months. word “Hi” but uses American About two months after the day Wolf was born and the She is regularly seen by a Sign Language and has Azariah came home his weeks to follow. Induced at 41 Gastroenterologist, a roughly 20 words including: feeding tube was able to come weeks, but weighing only 5lbs Pulmonologist, a Nephrologist, Up, More, All Done, Give Me, out and he started gaining 1oz. The midwife thought she and her Geneticist. She has weight without his tube. This might have made a mistake. weekly and bimonthly Physical was a huge accomplishment! Maybe we got the due date all Azariah is now almost 5 wrong. I was able to hold her months old and does have skin to skin right away and she some serious health issues started nursing immediately. and also several of the issues But as soon as we got to our discussed with us that could room she had to be put into a come with his deletions but he warmer to get her body is continuing to surprise his temperature up. Three hours doctors. His doctors are so in later I was able to hold her awe of how well he is doing again. and how resilient he is. We A two day stay turned into a 5 were told that Azariah would day stay, with high bilirubin likely always have profound levels, leading to light therapy hearing loss. Well, since he in the NICU. I had to start has been home he has had 4 pumping and nurses would hearing tests and at each one bottle feed her. This was all he is found to have more and wrong. This wasn’t the way it more hearing! He just recently was supposed to be. At 5 received hearing aids and now weeks, we were given her has moderate hearing loss and diagnoses: Duplication of is responding very well to the 10q23.32-10q25.3 and referred sounds around him. One of the to a geneticist at Yale New many things we are thankful Haven Children’s Hospital. for through all of this is the While waiting for our dedicated heartfelt doctors appointment, we “googled” it. that were placed in our son’s Our hearts sank. We found two life. They all care so much sites, a support group for www.rarechromo.org 17 Hi and Bye. She has started every service, find a support cruising along vertical group, and know that you are Contact a Family surfaces, and was fitted for not alone. Contact a Family supports families with disabled children SMO’s to aid in her standing across the UK whatever the condition, whenever they need and eventually walking. We 16p11.2 Microdeletion help, wherever they are. They provide information, advice were also given a mini pacer Mark: aged 11 years and support. They bring families together so they can gait trainer to aid in her Laura peacock support each other. They campaign to improve families’ mobility. And just before E: [email protected] circumstances, and for their right to be included and equal Christmas she took in society. One in 20 children are born with a disability and independent steps to her almost all are cared for at home by their families. Families father. with disabled children are more likely to be affected by Of course, commonly with depression, sleep disturbances, poverty, isolation and chromosome disorders comes relationship breakdown. Contact a Family is there for all of illness, mostly because of them. weakened immune systems. Contact a Family supports families with disabled children Right after Christmas she fell across the UK through: really ill. We have reason to • A national freephone helpline staffed by expert advisers believe it was due to all the who can advise on education, benefits, getting a medications she was on for diagnosis and sources of help. asthma. She stopped eating as • Provision of up to date medical information on a wide most children do when they variety of conditions. are sick. Wolf is only 18 • Connecting families in their local communities at family pounds and 31 inches tall. events and parent workshops. Loosing 2 pounds is huge. We The 4th February 2004 was a • Helping families find the best local support networks. made the decision to take her day that I will never forget. The • Supporting families to make a difference locally through off all medications and started birth of my first born, Mark. work with parent carer forums. working with a Homeopath. Four weeks early, 2 days of • Campaigning to end the poverty, disadvantage and We are on the mend, we have being induced, 4 weeks of isolation experienced by families with disabled children our happy magical child back, being in and out of hospital, across the UK and raise awareness of these issues. but it is like one step forward and months of anticipation, Contact a Family has launched their Counting the Costs five steps back. We are deliberation and trepidation all campaign. With more than 3,500 responses from UK working hard to get her weight culminated at 11.47pm that families with disabled children, Counting the Costs 2014 back, her appetite up, and her Wednesday night. found there has been a sharp rise in families with disabled strength. Nearly 3 weeks later, As soon as Mark was born I children going without heating and food over the last 2 she is just starting to cruise knew something wasn’t right. years. This is leading to ill health. Shaped by what again and make small steps to They had a NICU bed on thousands of families with disabled children say would being independent. standby, I had had the steroid help, the Counting the Costs campaign calls for urgent To the parents who are just injection to build his lungs, action by the UK government and energy companies to stop getting their child's diagnosis: and they were convinced he this alarming trend. Give Contact a Family a call on free Take it with a grain of salt. would need help when he helpline 0808 808 3555 if you need any advice or want a There is no one in the world arrived, but no… at 6lb 2oz, copy of our money matters and energy tips guides. with Wolf’s exact duplication. breathing on his own, and Contact a Family has produced 7 factsheets on the SEND This means there is no one out check boxes ticked, he was reforms that were implemented on 1st September 2014 – there that will be able to tell us fine! But still I wasn’t please see www.cafamily.org.uk/advice-and-support/ exactly what she will and won’t convinced… something just sen-national-advice-service/the-sen-process/ . be able to do. In knowing that, wasn’t right. First it was his take confidence in yourselves inability to breastfeed, having as parents. You know more to be cup fed, the feeding the monitoring of feeds. months old, and remarkably 1 than anyone about your own charts and monitoring. After a Changing milk every week walked unaided at 1 4 ⁄2 child. If I could do over the week we were let home but rotating between three months. But at 15 months old past 2.5 years I would have forced to return after less than different types helped too, I he gained his first (of many to breathed more, gone to see 24 hours when he was severely never thought motherhood come) diagnosis – Nystagmus. fewer doctors, and done a lot jaundiced. Another week in would be like this. By the time I was devastated. I could deal less tests. I would have taken hospital, still feeding charts, Mark was 8 months, we had a with a deaf child, I thought, but the advice of the Neurologist: still trying to breast feed, still routine check with the health a blind one?! I scared myself Yes, she is small, but she is trying to express and cup feed visitor. He was still not sitting and didn’t realised how lucky just fine, she will get there in too. Home again, this time for unaided and had not rolled we were that Mark wasn’t her own time. I believe she a few days before being back over, but the health visitor was actually that badly affected. will. She may not walk until again, this time with only bothered when I told her Yes, he has depth perception she is 3 or 4. She may not talk, dehydration and reflux, it was his eyes moved funny. So she issues, is clumsy, and it but she might. Always have like the exorcist every time he referred us to the eye affects him with tiredness and hope even when you feel fed. He was given medication department at the hospital. concentration, but he didn’t hopeless. Take advantage of and we still had to continue Mark did eventually sit by 10 need glasses till he was 8, and www.rarechromo.org 18 most nystagmus sufferers are moment, yes Mark is registered partially sighted or struggling because of the Disability Shows and Events even blind. stresses of SATs and school, in the UK in 2015 Mark has always been but we have 11 years of Kidz up North, Kidz South, Kidz in the middle events different, quirky, cute, always experience now, and can deal Four of the largest, FREE UK exhibitions totally dedicated smiling, polite, wanting to with most things he goes to children with disabilities and special needs, their please, quiet but he has through together, as a family. parents, carers and professionals who work with them. always had problems Come September things will Over 130 exhibitors offering information on mobility, expressing himself, being the all change as he moves to high funding, seating, beds, communication, access, education, bullied one, and being left to school. Just as long as I keep toys, transport, style, sensory, sports, leisure and much get on with things because he fighting for his needs and we more. A full programme of FREE CPD seminars will run isn’t the disruptive kid hurting are finally done with diagnoses alongside each exhibition. and shouting. (ha-ha), I have every confidence that with each Children are welcome to come along, try out the equipment Over the past 11 years I have other, our extended family, and products, join in the fun and features, and participate fought tooth and nail to get and our wonderful support in the sporting activities sessions taking place throughout answers, to get people to network of friends, we will be the day. listen to me and to be proven able to handle whatever gets • Kidz in the Middle: Thursday 19th March 2015, right! To say he does have thrown at us! Jaguar Exhibition Hall, Ricoh Arena, Coventry CV6 6GE, extra needs, he isn’t in line 9.30am –4.30pm with his peers, he does need 18p Deletion • Kidz South: Thursday 4th June 2015, assistance, and this is the Candida Place: aged 47 years Rivermead Leisure Complex, Richfield Avenue, name of it, a diagnosis. We Reading, RG1 8EQ, 9.30am –4.30pm have collected a fair few of E: [email protected] • Kidz Scotland 2015: Thursday 17th September, them since the nystagmus. Candy has been a member of Highland Hall, Royal Highland Exhibition Centre, He’s had 3 sets of grommets, Unique for many years and Edinburgh, EH28 8NB, 9.30am –4.30pm adenoids removed, expressive she is such a good friend to so • Kidz up North: Thursday 19th November 2015, EventCity, language delay, learning many of us. The photo is of her Barton Dock Road, Manchester, M17 8AS, 9.30am –4.30pm difficulties, motor coordination and her lovely fiancé. Here she disorder (dyspraxia), Dyslexia, writes about her personal For FREE Visitors tickets please call 0161 607 8200 or email moderate Hypermobility, experiences of growing up. [email protected] and www.kidzinthemiddle.co.uk . weight retention issues, My name is Candida but Naidex National takes place at Halls 17, 18 and 19 of the autism (ASD), vitamin D people call me Candy. It is 40 NEC – Birmingham, UK. See more at www.naidex.co.uk/ . deficiency and mildly high years since I was diagnosed Opening Times: Tuesday 28th and Wednesday 29th April cholesterol. with a chromosome disorder 10am–5pm, and Thursday 30th April 10am–4pm. Last year 5 days before Mark’s (18p deletion) at the age of 7. I Visitor Enquiries: T: 0203 033 2500 10th birthday I was finally was very small for my age E: [email protected] proven right. Just 20 days (with a bone density of 2). The Big Event and regional One Big Day events hosted by since the blood was taken, we When I was a baby I had a hole Motability, showcase Motability vehicles and provide a had our answer, our umbrella. in my heart which luckily unique opportunity to test drive cars with adaptations. It’s 16p11.2… It made perfect mended itself and I was totally free and a great day out for all the family. So come sense! it made more and more constantly ill with a very low along and find out what Motability can give you the ability to sense, reading the Unique immune system. I was, in fact, do. There will be a huge range of cars, scooters, booklet, talking to other one of the first children to be adaptations and wheelchair accessible vehicles on display. Unique families and joining diagnosed with chromosome The opportunity to test drive adapted and non-adapted 16p Facebook pages. Each disorder and to have my cars. time I saw a post it was like photographed. My • Motability advisors available to chat to they were talking about Mark. case study was used in • Free parking Just knowing we finally had an training of student doctors at • Free tea, coffee or soft drink answer, the right answer, was Guys Hospital. The students • A children’s play area including face painting and a like I had been vindicated. I had ask me (my mum) chance to meet Billy the Bear could finally look at all those questions and then work out • A free prize draw to win an iPad mini doubters, those who I had the diagnosis. • The Big Event: EventCity, Manchester, Friday 8th May screamed at for help and been At 5 I went to mainstream and Saturday 9th May 2015, 9am –4pm given the “paranoid parent” school but found it hard to • One Big Day: Yorkshire Event Centre, Harrogate, look in return, and simply grin keep up with the other Saturday 6th June 2015, 9am –4pm at them, knowing that I knew I children. I found reading and • One Big Day: Westpoint, Exeter, Thursday 23rd July 2015, was right all along! writing very difficult which 9am –4pm Mark learned the phrase “16 upset me so much, as I • One Big Day: Peterborough Arena, Cambridgeshire, pee 11 point 2, that spells thought it must be because I Thursday 6th August 2015, 9am –4pm MARK” so he knows he has an was being naughty, that I Telephone 0800 953 7000 for more information or visit answer, and can talk openly stopped talking, even at home. www.motability.co.uk/whats-on-and-get-involved/ and ask questions any time. I was relieved when I was one-big-day/ . Things are pretty good at the diagnosed and realized being a www.rarechromo.org 19 slow learner wasn't my fault. I worked at care home for then moved to a Special children with disabilities, in 2 School for delicate children. old people’s homes and at an The day I went to look around adventure playground for the school, the headmaster children with Special Needs. asked me when I would like to When I left YTS I carried on start. I replied “Tomorrow”. As working there as a volunteer. soon as I started at that school which I am sure helped me get I immediately relaxed and with the help of Speech Therapy I my present (paid) job with started talking again. In the Lambeth Council as a play Candy and her fiancé. small classes I felt safe and worker at first their One valued. All the children, We were all taught to help and Step course. I left with 2 more O'Clock Clubs for the under 5s including me, flourished. Our look after each other like a big City and Guilds certificates and and now Stay and Play run by disabilities varied from autism, caring family. I left school with went on to a Youth Training Clapham Children Centre. I haemophilia, asthma, ADHD 2 CSEs and then went on to Scheme for 2 and half years on have been working for and severe heart conditions. Lewisham College to a Next a Community Care Course. I Lambeth for the past 25 years

Working Parents – Know Your Rights Many of our parents work full or part time as well as caring The leave must be taken by the child’s fifth birthday, or for a for their child with a Rare Chromosome Disorder. It is helpful child who is entitled to Disability Living Allowance, by their to know your rights in the workplace if you need to take time 18th birthday. For parents who have adopted a child, the leave off for appointments or hospital admissions, etc. Some must be taken during the five years from the date of employers may have their own individual rules on this, but placement or before the child's 18th birthday, whichever is here is some helpful info with regard to the legalities, from the sooner. Leave can be taken in blocks of a week (and Carers UK. usually up to four weeks in a year), or blocks of a day if the Time off in emergencies leave is to care for a disabled child (again, usually up to a Also known as time off for dependants, the Employment maximum of four weeks a year). Collective or workforce Rights Act 1996 (in Northern Ireland The Employment Rights agreements may allow employees to take more than four (Northern Ireland) Order 1996) gives all employees the right weeks off in a year. You must give at least 21 days’ notice to to take a 'reasonable' amount of time off work to deal with an your employer in order to take parental leave. emergency involving a dependant. Whether the time off is Parental leave can be postponed by employers if taking leave paid or not is at the discretion of the employer. A dependant at the time requested would cause particular disruption to includes your husband, wife or partner, child or parent, or the organisation, eg during a seasonal peak in work or if someone living with you as part of your family. Others who multiple requests for parental leave are made at the same rely on you for help in an emergency may also qualify. time. The situations where leave might be taken are: If leave is postponed, employers must inform the employee • a disruption or breakdown in care arrangements within seven days of the request for leave being made, and • to deal with the death of a dependant the leave must be granted within six months. Parental leave • if a dependant falls ill, has been assaulted or in an accident cannot be postponed if it has been requested for the time • to make longer term arrangements for a dependant who is immediately after the birth of a child or the start of an ill or injured (but not to provide long term care yourself). adoption placement. • to deal with an incident involving a child during school Protection from discrimination hours Although up until recently carers have not been directly (or To use this right to time off, employees must inform their explicitly) protected from discrimination in the workplace, employer as soon as possible after the emergency has this situation has now changed. If you are looking after happened. This right can also give you some protection from someone who is elderly or disabled, the law – under the victimisation and dismissal. If you think you have been Equality Act 2010 – will protect you against direct treated unfavourably because of using this right, seek further discrimination or harassment because of your caring advice from your union or a legal adviser. responsibilities. This is because you are counted as being The right to parental leave ‘associated’ with someone who is protected by the law because of their age or disability. Direct discrimination is If you have at least one year's continuous service with your where you are treated less favourably than someone else employer and are responsible for a child aged under 5, or because you are caring for an elderly or disabled person. This under 18 if your child is entitled to Disability Living could include your employer: Allowance, you are entitled to: • refusing to offer you a job because of your caring • 18 weeks (unpaid) leave per child to look after your child responsibilities • 18 weeks (unpaid) leave per child to look after your • not offering you a promotion because of your caring disabled child responsibilities • To qualify for parental leave, you must be a parent (named Source: www.carersuk.org/help-and-advice/work-and-career/ on the birth certificate), adoptive parent, or have acquired other-rights-at-work legal parental responsibility for the child.

www.rarechromo.org 20 and have now NVQs 2 and 3 in straighten her skirt up a bit) Child Care. I also work at and being able to climb up the Families with XXYY Boys Heathbrook School helping to slide all by herself. She can The XXYY project has written a Children’s book, which is run a Breakfast Club 4 get in and out of the bath all by now available from Amazon US www.amazon.com/ mornings a week and in a herself and dry herself off Kyle-his-Extra-X-Y/dp/1497358264 or Amazon UK sensory room at the Children afterwards. Her fine and gross http://amzn.to/1wpLQ7X . Centre for children with motor skills are getting better ‘Kyle and his Extra X and Y’ is a children’s book for kids complex needs. I am the Union pretty much better very day. with 48, XXYY. This book helps children and adolescents Learning Rep to help my Ty has gone from not even with XXYY understand their condition. The story follows colleagues go on courses. being on the reading writing Kyle, a young boy with XXYY, through his busy day as he I have been a member of and maths levels to a 1b in her attends school, goes to golf practice and has a doctor’s Unique for about 20 years and reading and a 1c in everything appointment. The story explores the genetics of XXYY and always find it a great support – else. She has tried so hard to addresses social, academic and medical aspects of this like my old school a huge achieve this and the school condition in an age-appropriate, fun way. Though Kyle’s caring family. Now there is a has been an amazing help. condition presents him with many challenges throughout sister group for Chromosome She absolutely loves reading the story, he is able to work through each challenge in his 18 Euro. I enjoy going to both and it’s the first thing she does own way. Boys with XXYY will identify with and learn from conferences where I meet up when she gets home from Kyle as they read this book. with old friends and can school. She even reads to her discuss the problems we all little brother and sister before come across in our daily lives. they go to bed. She has also developed a stubborn streak. I America, which although In the Euro started using a wider range of know some people will helpful, full of valuable Conference I have been asked vocabulary using delicious understand that I am really information and research to take part in Q and A instead of yummy, etc and happy about this because she papers was a little far away for sessions as a self advocate even joking around which she will stand up for herself in most of us. Many found that from our own experience. We didn’t really understand later years when she faces information given regarding answer questions raised by before. She has become a real bullying and the peer pressure the education and health the parents – both good and computer whizz and if I show that seems to be the norm of services was not relevant to bad things. her how to do something once this age. I’m so proud of my our UK systems. Medications (or not show her at all and she little girl. A year ago I didn’t were also very different and Deletion 20p13 has just watched me) she can think all this was possible. often unavailable in the UK. Tyler: aged 6.5 years do it. She’s definitely proved me After throwing around many ideas we decided upon a UK Kim Welch It has been such a drastic wrong. change in such a short space Conference and Family Retreat My beautiful daughter is 6 of time; it’s like having a 48,XXYY somewhere central to all in years old, is called Tyler and completely different girl. With From a Meet Up to a the UK, and I agreed to look has a 20p13 deletion. She has Ty’s improvement has come Conference! for funding to cover this event. mobility problems, moderate At this point all at Unique were the confidence she was Hi I am Jocelyn Eldridge, Mum learning difficulties and very supportive. As a lacking. She was the ultimate to Jack who is 12 years old and autistic traits. registered Unique parent people pleaser and hated to do has 48XXYY. This means he Since September 2014 Ty has member myself, they helped anything wrong but because has two of the X and Y sex learnt to dress/undress herself me in many ways including she is more confident now she chromosomes (most males with minimal help (I just will argue with me and has a passing me contact details of only have one of each). I have those they had with 48XXYY on previously organised two get their agreed to share details togethers for 48,XXYY families list. I emailed others on this at my home. Both of these list, asking what they thought were very successful and to and what they would like to date I have now met up with 9 see covered at such an event. other families. At these Once I had collated this meetings I put forward an information I applied for a idea. To run a bigger event to grant from Genetics Disorders gather as many UK 48,XXYY UK Genes for Jeans Day Fund. families as possible, together After being short listed and with medical professionals then presenting to a panel of alongside other experts on 10 in London I was fortunate matters that affect our enough to be awarded the families as well as grant last February. I have inspirational speakers so we spent the last year putting our could all learn from each ideas into motion. Plans have other. Everyone thought this been made and in May 2015 in would be a great idea as the a beautiful venue in the Peak only support group we had District, we will have the found was the XXYY Project in largest ever meeting of XXYY www.rarechromo.org 21 Updating Unique’s guide to XYY and leaflets about Telling your Son In a fast-moving field like genetics, it’s important to keep abreast of changes. So last year we updated our guide to XYY. Since we first published the guide in 2006, quite a lot has changed, and Unique was involved in some of the changes. Working closely with Unique, researchers at Oxford University ran the DIESC study, investigating the Development of Individuals with an Extra Sex Chromosome. Focusing within Unique on girls with XXX and boys with XYY, this study revealed what many parents had long suspected: a link between a susceptibility to autism and the extra . Groups in America meanwhile had found that boys with XYY were more likely to develop asthma, a little more likely to have seizures, and that a mild degree of low muscle tone was common. A researcher in Denmark looked at how adults with XYY get on. The great majority of boys and men don’t know about their extra Y chromosome, and there are sharp differences in the rate of problems faced by boys diagnosed before birth (by amniocentesis in older mothers for example) and boys diagnosed in childhood. Many families with more severely affected boys felt that the emphasis on the extra Y chromosome usually not coming to light meant that their sons’ evident difficulties were minimised. Unique’s new guide, developed after surveying its almost 300 members with XYY, helps to correct this imbalance. We are grateful to Rebecca Bastock, a trainee clinical scientist who reviewed the medical literature. When the DIESC researchers visited families in the UK with a child with an extra chromosome, they found that parents’ most common question was when and have your contact details or I Families in the world. I have 31 how to tell their child. Working with Unique families, they am unaware you exist! If you families booked from all over have now developed a booklet ‘Things that make me would like to be added to my the UK including Scotland, special’ and parents’ materials to help. list or contacted re any future Cornwall and Ireland. It will be XYY guide: events or research etc please a 3 day Family Conference and www.rarechromo.org/information/Chromosome_Y/XYY email me at jocelyn.eldridge Retreat where attendees will @ntlworld.com . Telling your son: www.rarechromo.org/information/ have the opportunity to listen Chromosome_Y/Disclosing_about_XYY_for_boys to specialised speakers, attend Following on from this Unique’s new Project Officer Dr Anna Pelling will be workshops, take part in fun Conference our aim is to form contacting many XXX and XYY families in 2015 to evaluate activities, relax and enjoy a a UK XXYY Family Support how helpful these leaflets are, so please do watch out for beautiful Victorian mansion Group and launch a UK letter or emails from Anna very soon. If you want to contact and its grounds. When I Website hopefully including a Anna, her email address is [email protected] . pitched this idea to The Jeans connection button for a direct for Genes Panel I was aware of link with the XXYY Project in 33 XXYY UK Families So I America where many years rare condition. Stats reported with a total of 141 people worked on a guesstimate of 30 have been spent gleaning that there were so few of us attending. I would like to say a knowledge and information families attending as I thought that realistically we would be big thank you to Jeans for a few wouldn’t come and about the condition and where very lucky to cross paths with Genes for giving us the grant maybe a few more may appear the most research to date has any others. I am thrilled that to enable this dream to along the way. I am now aware been obtained. Alongside this we are now looking forward to become reality, and to Unique of 51 families living with XXYY we would like direct links to meeting 30 other families in the UK. Some of these I only other useful UK support and the XXYY Project for being have a name for so if you are a groups and charities.From similar to us! supportive and advertising for UK XXYY Family that I have not diagnosis I just wanted to I am very pleased to say The us. I hope it all goes well and I contacted then I either don’t meet others with the same Conference is now fully booked will update you after the event. www.rarechromo.org 22 Sophie’s World We loved this fundraising idea and think Sophie has real talent in taking photos. Sophie’s Mum, Anna talks below about the exhibition which took place in November, in a cafe in Brighton.

Our daughter Sophie has a Unique and another local 17q24 deletion. She is charity, I organised a one non-verbal and has severe night photo exhibition of learning difficulties but has Sophie's photos at a local cafe. shown a surprising and I think this could be replicated creative aptitude with the at various levels of simplicity camera on my iPhone and or complexity, so am sharing iPad. this as an idea. I will confess I As a celebration of this and to was enormously helped by raise funds and awareness of having a few friends – a cafe

competition for the kids to keep them occupied. We even sold three of Sophie's framed photographs. Our daughter Laura, aged 9, also took an active part, making a beautiful box to hold the raffle money, creating her own embellishments to one of Sophie's photos and running the raffle on the night with her friends. Although this may all sound quite complex, I think it could be equally successful as owner prepared to host the an "at home" with a few Eye Patches by Patch Pals event for free and give a artistic creations from your ‘Eye patches by Patch Pals’ has eye patches for children, percentage of profits to the child and cake and coffee or adults and babies. Their eye patches are approved by charities, a photographer wine for sale. At the other end ophthalmologists and optometrists for treatment of lazy friend who was an amazing of the scale I do wonder if eye, amblyopia, strabismus and post eye surgeries. curator, gently guiding me something bigger could be put Based in the USA but ship internationally artistically, and a stylish friend together with more of our http://patchpals.com/ . who designed a lovely card for unique children's artistic the exhibition and helped with E: [email protected] creations for a longer running the raffle. I also was exhibition open to the public to pleasantly surprised by the promote the fact that people generosity of lots of local with learning or physical IPSEA shops and people who disabilities can be provided raffle prizes. The extraordinary communicators IPSEA has created more new resources to empower raffle was the real fundraiser and give us a new take on parents and carers of children and young people with SEND of the evening, but we also ordinary things. (Special Educationals Needs and/or Disabilities). These new resources are available on their website – free of had a little self-portrait E: [email protected] charge. Using these resources will help families (as well as those who support them; family members, Local Authority staff, Teachers, School Governors, SENCOs and Learning USA Families Support Assistants) to get the right education for children You may have read an article in the NY Times : and young people with all kinds of SEND. www.nytimes.com/2014/10/23/business/media/helping- New resources are: parents-deal-with-learning-and-attention-issues.html . • Refusal to Assess Pack For the first time ever, 15 nonprofit organizations have • Answers to more Frequently Asked Questions joined forces to support parents of the one in five children • Parent Training Day on 5/12/14 with learning and attention issues throughout their • Accredited SEND Adviser Training journey. For more information please visit www.ipsea.org.uk . For more info. please visit: www.understood.org . www.rarechromo.org 23 IMAGINE ID is a new research study that aims to understand the relationship between the genetic makeup of children with and their developmental and behavioural challenges. Many Unique families have already taken part. Here, Professor David Skuse explains how the study will benefit children with rare genetic changes and their families.

with the interest received so far. The motivation and determination of Unique families in the face of adversity provides us with a constant source of inspiration. We hope to see 500 participants by September, so we need as many people to get involved as possible. We are very appreciative of all the support from Unique and to all the families who have already signed up.

GET INVOLVED You can find out more about the IMAGINE ID study by contacting the study coordinator Hus Timur on [email protected] or 01223 254633 . If you do get in touch, this does not mean you have to take part. • www.imagine-id.org • www.facebook.com/imagineid.study • twitter.com/imagineidnews

Sex and Relationship Education (SRE) Resources New for 2015 Life Support productions have enhanced one of their SRE DVDs with optional easy read English subtitles. Each video of The Primary Guide is now available both in standard format and as a subtitled version. Featuring carefully timed pauses and large clear subtitles, this resource is suitable for a range of communication difficulties. These subtitles, unlike traditional DVD subtitles, are larger and clearer and Who is in the IMAGINE ID research team? have a longer screen time to enhance comprehension. For We are a group of researchers, doctors and genetic counsellors more details visit: www.lifesupportproductions.co.uk/ from the University of Cambridge, University College London, pnsedvd.php . and Cardiff University. We have joined together as a team to Each of their titles offers a comprehensive guide to the combine our expertise and shared interest in human genetics, main issues in a clear and friendly way, using animated intellectual disability and child development. characters (2D and 3D animation) to narrate and illustrate How is this study relevant to Unique families? each topic. Accessible and user-friendly with easy to use When a child is diagnosed with a rare genetic change, doctors menu choices, our DVDs are highly recommended as are often unable to answer parents’ next questions about what educational resources for children and young people this means for their child. One parent told us: “All I got was: including those with learning disabilities. Topics include that’s the diagnosis, but we don’t know anything about it… but if “You, Your Body and Sex” , “Growing Up, Relationships and you could put yourself on the Unique website you can find out Sex” , “Jason’s Private World” and “Kylie’s Private World” . more”. We hope our project will enable doctors to provide Each of their DVDs can be previewed online at parents with a more helpful explanation and to better advise www.lifesupportproductions.co.uk, please contact me for families about the impact of the genetic change on their child’s more information. behaviour and development. To achieve this we are inviting Wilf Parsons thousands of families affected by rare genetic changes to fill out Life Support Productions, PO Box 2127, London NW1 6RZ an online questionnaire about their child’s experiences. www.lifesupportproductions.co.uk How far have you come with the project? T/F: +44 20 7723 7520 We are still in the early stages of the project but we are thrilled www.rarechromo.org 24 Overview of the Tracking Rare Incidence Syndromes (TRIS) project Deborah A Bruns, PhD, Southern Illinois University Carbondale Principal Investigator, TRIS project

The Tracking Rare Incidence Syndromes (TRIS) project began in completion of a TRIS Follow-up Survey. This February marked February 2007. The TRIS project’s mission statement is to the beginning of Year 7 follow-up. Data are analyzed and increase awareness and knowledge for families and disseminated via conference presentations and publications to a professionals touched by rare (including partial variety of professionals including clinical geneticists, neonatal trisomies or duplications, but not other genetic conditions).The nurses and early intervention providers. Presentations are also project aims to facilitate improved decision making for optimal provided to parents and extended family members as well as services and support for children and their families. more informal, one-to-one contacts via Facebook, email and Approximately 600 families from around the world have enrolled phone. I am always asked what brought me to this project. I in the TRIS project since its inception with close to 75% worked with three preschoolers with trisomy 18 (total of three completing surveys about their children including birth history, full copies of chromosome 18 instead of two) when I was a past and current medical needs and developmental milestones. classroom teacher. I knew nothing about Edward syndrome and One of the distinctions of the TRIS project is that longitudinal the available literature only discussed medical issues and that data are collected. This is information that covers a period or less than 10% of infants reach their first birthday. The girls I whole of a child’s life (and not just one moment in time). Once a worked with were three and four years old! I returned to school survey is submitted, an email is sent one year later requesting to pursue my doctorate in Early Childhood . I began studying parent experiences in the neonatal unit with their very premature infants. As I learned more about this topic I was drawn back to the preschoolers I worked with and wanting to New Animation know more about rare genetic conditions. Fast-forward to the Videos to explain early 2000’s and the beginning of listservs and, soon after, social Robertsonian and media. I “virtually” met many children and their families and knew many survived and thrived. In this process, I learned about Reciprocal other rare conditions involving trisomies such as trisomy 9 Translocations mosaicism and duplication (partial trisomy) 6p. As my knowledge Clinical Geneticist Dr Sally grew, I knew updated information needed to be collected and Ann Lynch and the genetics shared so that children with these conditions would be offered team at Temple Street medical treatments such as cardiac surgery and other services Children Hospital in Dublin have developed two short for optimal development including speech therapy and nutrition animation videos; one on Robertsonian translocations and consults. What was clear was even within this community, there the second on Reciprocal translocations. The aim of the were children with “rare rare” genetic conditions. The videos is to try and explain why having a translocation prevalences for trisomy 18 and 13 vary between one in 3000 to causes problems when a couple try to conceive. Families one in 5000. Numbers for children with “rare rare” conditions are with chromosome translocations will still need a genetic much lower. It was no surprise that parents were searching for consultation as it was not possible to explain risks or all another child with the same diagnosis as their own. They want to the possible outcomes in a short video. However, Dr Lynch connect with someone who is facing the same issues whether felt there was an opportunity to develop an educational tool their children are the same age or functioning level. In addition that would act as an aid to both health care professionals to the data sharing of the TRIS project, there is an emphasis on and families in understanding how chromosomes get reaching out to parents to help them connect whether it is handed on from parent to child. The feedback from these posting to a Facebook group or working directly with parents to videos has been raise awareness. positive. She is In all presentations and publications, the TRIS project includes hoping to translate photos to make the children “real” to medical professionals. the videos into Statistics and solely medically focused case studies provide eleven languages. information but seeing a child creates a more lasting, positive Funding grants for impression. In fact, beginning January 2014, the TRIS project has this project came been developing and uploading case studies. One child is from University highlighted each month (please see www.coehs.siu.edu/tris/ College Dublin, Children’s Fund for Health, casestudies.html – all case studies can be downloaded in PDF Temple Street, Dublin and Shire Pharmaceuticals. format). The project’s website is located at To view the videos just go to: www.coehs.siu.edu/tris and Facebook page at www.youtube.com/watch?v=vbGw4VanNjk www.facebook.com/TRIS.Trisomy.project . www.youtube.com/watch?v=MLDCJ2gUC84 Most importantly, the enrollment form can be found at http://web3.coehs.siu.edu/tris/PreEnroll.php . Questions can be directed to [email protected] or [email protected] . www.rarechromo.org 25 Super Power Baby Project So often we are told what what our children with a rare chromosome disorder can’t do but many of us know our children have special talents and attributes – perhaps not in passing exams or the conventional ways talents tend to be measured but in many precious other ways. We at Unique first heard about the Super Power Baby Project when we saw Rachel Callender giving a lecture on the project on Ted.com . It’s really well worth watching and some of our families from New Zealand have taken part in the project. Here Rachel and her husband Sam talk about their remarkable little girl Evie and the amazing Super Power Baby Project she precipitated.

Sam and Rach write: It began many Unique readers will experiencing them differently unique, distinctly Evie, and we with Evie Amore Callander. A identify with we were dealing to other people. For example, referred to them as “Super little girl, our daughter, born with stress and heartache on a whenever we drove on a Powers” by now they were no with a rare chromosomal daily basis that we were section of road that has a longer light-hearted words, condition that meant we completely unprepared for, number of large pylons, she but incredibly real. needed to take each day as it particularly the regular would cry, every single time, “Super Powers” became a way came. Readjusting our dreams emergency trips to hospital day or night. Then we noticed for us to describe Evie in a as a family, our expectations where her life hung in the this extended into positive manner when people and our lifestyle. Thoughts balance. However Evie supermarkets and anywhere asked “What’s wrong with and dreams about the future constantly amazed us with her there were electric sliding her?” We were constantly were removed, in their place strength and determination to doors. It was as if she had an faced with the medical reality an appreciation of each survive. electromagnetic sensitivity of Evie’s condition and the moment. Our journey with Over time we noticed that Evie that was unique to her. We “Super Power” mentality Evie was hard. Harder than we responded to particular started saying she had super helped balance the deficit would have ever thought we environments in a way that powers as a light-hearted way language often reached for could have coped with. As made us think she was to describe this phenomenon. when describing disability. We soon realised that her This in turn helped to bring entire character, the things out Evie’s best and helped she was teaching us and those others to see it too. The around her were very specific words “Super profound. Powers” are not as important Her strength and bravery in as adopting the attitude of extremely tough medical looking for and celebrating the situations, the way she evoked good, the beautiful and the a depth of love in people that moment. they hadn’t experienced We are very grateful to have before. Her fragility and her enjoyed 2½ years with our pure joy disarmed people and daughter. All the doctors, drew them in. Even down to nurses, ambulance staff and how she got round – scooting therapists involved in Evie’s on her back on the floor. care did a wonderful job of These things made her helping her to survive and to

New iPad App and Audio Book for Children with a Genetics Condition There is a new iPad app and audio book designed for children. It includes a range of characters and tells of their adventures. The characters are all in some way affected by a genetic condition. It’s been developed in conjunction with the charity ‘Genetic Disorders UK’. It might be a useful resource for parents of affected children. • www.treehouseatnumbernine.org • www.geneticdisordersuk.org/ parentsofaffectedchildren/handyresources • www.geneticdisordersuk.org/newsroom/ournews

www.rarechromo.org 26 thrive, allowing her to reveal children we met. As you read her incredible character. them you will start to see what Revised SEND Code of Practice While Evie was with us, an we saw, that while every child Guidance on the special educational needs and disability idea came to Rachel to create and family is very distinctive (SEND) system for children and young people aged 0 to 25 a photographic coffee table there are consistent themes years from 1st September 2014. A revised version ‘SEN and book that would share with that emerge; unconditional disability code of practice 0 to 25 years’ has been published others the amazing life and love, living in the moment, which comes into effect on 1 April 2015. empathy and compassion. love were fortunate enough be www.gov.uk/government/publications/ What astounded us as we experience with Evie. The idea send-code-of-practice-0-to-25 was to meet and photograph travelled was how these are Source: Department of Education, 29 January 2015 other children with some of humanity’s highest chromosomal and genetic ideals and that these children conditions and discover their are the teachers of these looks like. The unique and Feedback has been hugely Super Powers. Through values. As one parent put it; distinctive abilities of this positive and we feel that the crowdfunding and thanks to “He will teach us more than amazing group of children can Super Power Baby Project, the help of many people from we can ever hope to teach act as an inspiration for all of thanks to so much support, around the world we had the him.” Our hope is for the us, to encourage each other. has started to have a magnificent honour of reader is to see the value, The Super Power Baby Project significant and positive impact travelling our home country of potential and beauty in these was launched in August 2014 on the way people perceive so- New Zealand meeting ordinary children. As humans we are at an event where over 250 called disability. As well as the families being made all different, we all have people gathered to celebrate book being read by 1,000’s, extraordinary through the strengths and attributes that the book. It was a very moving Rachel has spoken at 12 journeys their children are can be celebrated. There is no day. The best moments were events to over 3,000 people taking them on. such thing as perfect yet we when those photographed in sharing the images and In the pages of the now are obsessed by it. Chasing an the book found their pages stories of the Super Power released Super Power Baby illusion while missing what is and saw their images. The babies who have inspired Project are images and stories right in front of us. Disability is book has been enjoyed and tears of joy and changes in of children as their parents’ not a deficit within the person, accepted in homes, medical attitudes. see them; full of beauty, love but shows up the deficits in institutions and schools, Copies of the book are and acceptance. The words our culture and society that particularly in New Zealand. available at www.superpower that accompany the images does not fully accept, Copies have also made their babyproject.org where you attempt to reflect the encourage and celebrate way to UK, Australia, Canada, can also watch Rachel's TEDx conversations we had and the humanity, no matter what it USA, Norway and Germany. Auckland talk.

www.rarechromo.org 27 ‘The Compassettes…Friends are the compass that guide us. They are the inspiration to reach great heights and our comfort when we occasionally falter…’ The Compassettes

Left to right for kids on the bench: Lily May, Jackson, Stella, Grace, Hollie, Charlie and Tilly. In the photo of the Mums with two standing and two sitting, Samantha Hill is standing left, Rebecca Earp standing right, Anna Appleby sitting left and Ania Moir sitting right.

Wonderful friendships and support networks between Unique what the future held for us. One thing I was certain about was families have been formed across the world, not necessarily that I wanted to find others in my situation and learn from their between families whose children have the same chromosome experience and know that I wasn’t alone. I joined Unique in disorders but very often between families whose children have November 2012 and quickly found the group a massive source of quite different disorders and who experience similar joys and support and reassurance. Now fast forward to January 2015 challenges. Here 4 such friends from the UK tell us about the where I am sitting here writing this and thinking about 3 amazing friendships and support network they have formed. wonderful women who I called best friends. We are so close that we are practically family, our families do things together and we Samantha Hill are one big unit! I dare anyone to ever challenge ‘Our Unit’ as E: [email protected] they have to fear 4 determined, strong, brave, beautiful, patient When my daughter was diagnosed with a rare chromosome and loving mummies! We call ourselves ‘The Compassettes as disorder, I can remember feeling lost, bewildered and unsure of we are based North, South, East and a tad West! Just through threads and posts on the Unique Facebook Cafe lead us to start talking on a regular basis, not just about our children, but life in Sensory Stories for Children and general. We all come from different corners of the country but manage to speak every day, which drives our husbands crazy! Teens with Special Educational Needs: We meet up 3 –4 times a year, sometimes just the mums as we A Practical Guide all need that time to be us and not mummies or wives and other Available from Amazon http://amzn.to/1wdYtrX . times with the husbands and children. We have even attending Review family gatherings, the first being my daughter’s christening and This book identifies many of the problems our children the next gathering will be Rebecca Earp’s mum’s wedding! Our exhibit as a result of their sensory difficulties, such as mum’s are facebook friends, our husbands are facebook friends, delayed learning, and low moods and behaviour. It we are even facebook friends with each other’s friends! Our introduces sensory stories as a resource to break down weekends consist of eating, drinking, laughing, crying and just barriers to learning and understanding. The examples generally being there to support each other as we guide our way within draw upon Joanna's incredible insight into the world through the unknown. We celebrate each of our kiddie’s of special needs children through her experiences in the achievements and treat each other’s kids as if they were our role of teacher and enabler. This is vital reading for every nieces and nephews. We are a constant source of support to special needs parent and teacher alike. James Gordon, each other through the good times and the bad times and if we Autism advocate and Social Media Campaigner, single ever need each other, we only have to shout. Even though we parent of a boy with severe Autism. may feel life has untreated us unfairly, I don’t think about what About the Author could have been, I looked at what I have gained…3 best friends Joanna Grace is a consultant and author of educational and their utterly beautiful families. materials for students with special educational needs. She has spent her career working with children with special Rebecca Earp educational needs both in mainstream and special school When the geneticist told me to join Unique I wasn’t interested. I settings, and has also fostered a child with special needs didn't need a support group, I didn't need other special needs on a short break basis. She has been commissioned to mums in my life, and I didn't want strangers sharing their write for a number of high profile organisations, including experiences or giving advice. My husband joined Unique and BookTrust, Teach First, Worldstories, Oxfam, Amnesty after a few months posted on Facebook about Lily-May’s unique International and the Holocaust Memorial Day Trust. She deletion. Lo and behold someone replied with a similar deletion. regularly trains professionals in how to facilitate Sensory From that moment on I’ve never looked back. The Unique Stories for students with special educational needs and Facebook Cafe became my lifeline, my access to a wealth of disabilities. She speaks regularly about sensory learning at knowledge and my greatest source of support. I soon became educational conferences. Joanna's website can be found at friends with 3 of the mums, we quickly realised we had the same http://jo.element42 .org and she tweets as @jo3grace . sense of humour and shared a common bond… WE LOVE CAKE…! These 3 woman are my bestest, most treasured and www.rarechromo.org 28 trusted friends. The love and respect I have for Anna, Ania and Sam I cannot put into words. They've become part of my Unique’s Social Networking Resources extended family. They nurture my children and love them like their family and the feelings are mutual. We celebrate each on Facebook, Twitter and YouTube All of Unique’s ‘Local to You’ Facebook groups and the other's family’s achievements and are there for support when Unique Network Cafe are ‘secret’ in status. This means that days are tough. So thank you Unique for introducing me to 3 of they can’t be found in a search. You need to be a registered the most amazing woman and their families I could wish to have parent/grandparent/carer member of Unique to use them in my life. and no-one can see what you post except other members in Ania Moir the group. You have to be invited to join by the email E: [email protected] address you use for Facebook. If you would like to be added to the Cafe, or one of the ‘Local to You’ groups, please email When my daughter Stella was born, we were told on her first day [email protected] or [email protected] . that she had dysmorphic features and blood was taken for Many of the members have met up for coffee, days out, etc. testing straight away. We were told this would take some weeks The ‘Local to You’ groups set up are: and that someone would be in touch. We were then sent home • Unique South West England and told to ‘enjoy’ her… Easier said than done when the joy and • Unique Devon and Cornwall excitement of your new baby has been snatched from you! Stella • Unique Sussex, Surrey, Kent was undiagnosed for the first 6 months of her life and this was a • Unique London very frightening and above all lonely time. We didn’t feel that we • Unique Home Counties North fitted in anywhere with our little girl and the unavoidable lure of • Unique Yorkshire Google filled our heads with some really worrying possible • Unique Hampshire, the IOW, East Dorset scenarios! When Stella was finally diagnosed with 12q14.3-15q • Unique West Midlands dup, our geneticist immediately talked to us about Unique. • Unique East Midlands Although terrified by this unique chromosome issue and the total • Unique NE England lack of information, the relief of finally belonging to a support • Unique NW England network was intense. I had no idea yet of just how very special • Unique East Anglia this group would become. This is where I met 3 very incredible • Unique Scotland Chromo Mummies, Rebecca, Samantha and Anna. Over the • Unique Wales months we became very close online, decided to meet up and • Unique Northern Ireland ever since, the bond has strengthened. I feel that I have gained a Europe huge amount through our sharing of all things good, bad, sad • Unique Republic of Ireland (ROI) and downright hilarious. They give me the ability to smile and • Unique Europe laugh through some of the more rubbish days and the strength to fight for my daughter’s rights! These 3 ladies are my amazing America friends. They are the most understanding, supportive, loving, • Unique Midwest USA interested and non-judgemental women and I am incredibly • Unique Northwest USA blessed to have them in my life. A truly Unique friendship! • Unique Southeast USA • Unique Northeast USA Anna Appleby • Unique Southwest USA ‘The Girls’ as they are referred to in my house, Samantha, Australia Rebecca and Ania have without a doubt been the best thing about • Unique Australia having a unique child. Even on the very hardest of days I think to Canada myself, at least this journey has given me such a special • Unique Canada friendship. It’s has been a kind of web of chatting, texting, New Zealand messaging, crying, laughing, gossiping, eating, drinking and • Unique New Zealand even dancing that has created my little safety net. What I am South Africa most grateful for is that the net is growing to support my • Unique South Africa children too. I feel Tilly (7q micro deletion) has gained three incredible Aunts who will always accept her and some chromo Russia cutie siblings. Grace my typical daughter has gained friends • Unique Russia which the older and more aware of her position as a chromo We also have ‘Club Unique’ – which is for any of our adult sister she becomes are there to support her and know what she members who have a chromosome disorder themselves. is going through. Without searching for, or speaking out the help Please note Chromosome Angels, Grandparents and local and an understanding ear they will just be there for her. I am so contacts facebook groups have all been deleted due to lack eternally grateful for that and would like to thank Ania and her of regular use. We still have our public Facebook page for husband for letting me come and stay and putting the effort in to non members, friends, family, fundraisers, associates and a lovely friendship between our children, thank you. I couldn't supporters www.facebook.com/pages/Unique-Rare- urge people enough to try and meet up with others living close Chromosome-Disorder-Support-Group/130797430472 . by, start making your own little safety nets. We have a Twitter account Thank you so much ladies for your inspiring article. https://twitter.com/#!/Unique_charity (@unique_charity) Furthermore, Sam is going above and beyond by running the We have a YouTube account at London Marathon in aid of Unique on 26th April. Please do www.youtube.com/user/Rarechromo sponsor her at www.virginmoneygiving.com/team/hill2015 . www.rarechromo.org 29 Trisomy in the Norwegian Parliament by Siri fuglem Berg MD, PhD Founder member International Trisomy Alliance Here Dr Siri Fuglem Berg, parent of a child with Trisomy 18, talks about changing attitudes in Norway to survival and treatment of babies with Trisomy 13 () and Trisomy 18 ().

In Norway, politicians have received letters from trisomy parents on parental preferences with regards to level of treatment. Ivar complaining about the lack of medical care for their babies. Stokkereit, a legal expert on children’s rights, also an invited There have been articles in newspapers and news reports on speaker to the seminar, stated the importance of not making television of trisomy children who were denied life saving guidelines restricting the level of care for specific diagnosis. Not interventions. As a result, politicians from various political only was it unethical, it was illegal, he said. The Department of parties have directed questions about treatment of trisomy Health’s speaker, Dr Jens Grogaard, stated the importance of babies to our Minister of Health. In his replies, focus is on palliative care, and that one should respect the parents and palliative care, on relieving suffering as the primary goal of care. children with trisomy. On questions from parents at the seminar The Norwegian Directory of Health points out, through him, “the on why trisomy 18 and trisomy 13 babies should be included in a importance of acknowledging the fact that most of these children palliative care program from the day the diagnosis was made, his die early due to respiratory or circulatory failure”. They have response was that, “trisomy parents misunderstand the meaning been ordered to develop guidelines for palliative care for children of palliative care”. in Norway. The survival statistics that the Directory of Health Three more physicians told of their experience with trisomy point out in the Minister of Health’s response letters are based children who lived for a while. They had all changed in their view on population studies where the norm is not to offer advanced on the diagnosis, admitting that intensive care and cardiac medical interventions to babies with trisomy 18 or trisomy 13, surgery may be appropriate for some babies with trisomy. We resulting in 5 –10% one-year survival. Now, where else do we were told that so far one baby with trisomy 18, Felicia, has discuss survival statistics without treatment? Trisomy parents received corrective cardiac surgery in Norway. This girl is doing were not too happy about the response. They know that recent very well and would have passed away without the surgery. Three medical literature shows increased survival rates when intensive parent speakers, including me, spoke last. The two other parents care and cardiac surgery is an option. They seemed disgusted by told of their living children with trisomy 18, one is 15 years old the focus on palliative care, as one mother said: “All our children and the other child is one and a half years. They are happy and are ever offered, is palliative care. We want focus on proper content, easy to please, and spreading both joy and worries in medical, including advanced care and treatment, according to their families. The entire seminar showed a changing attitude their needs, not refused on account of the trisomy label.” amongst the physician speakers. It resulted in newspaper Further communication ensued between various politicians form headlines with the apology from Saugstad. I am thrilled, but I a broad spectrum of parties – from the farthest left to the worry that most colleagues don’t share his view. We still have a farthest right – and trisomy parents. As a result they decided to huge job ahead of us in informing health care workers and hold a mini-seminar on trisomy 18 and trisomy 13 in Parliament. changing their attitudes, in making them realize that life with The seminar was held on 14th October and Professor Ola Didrik trisomy 18 or trisomy 13 actually is worth living. And that Saugstad, a renowned neonatologist, was the main speaker at parents, in the grey zones between life and death where medical the event. He summed up the recent literature, stating that outcome is unpredictable, just may be better suited to make trisomy should no longer be called lethal, that attitudes need to decisions for their baby. change, that the lethal language has to change, that health care workers need to admit that they have been mistaken about the prognosis with these children, and that active care would be as Winter Wonderland Manchester appropriate as palliative care. Most importantly he apologized to trisomy children and their parents, both on behalf of himself and Supports Unique Families on behalf of the Norwegian health care system. He said he was Unique wishes to thank Winter Wonderland, Manchester now ashamed of the ILCOR guidelines (in which he participated) www.winterwonderlandmanchester.com for providing 30 that until 2000 stated that one should not offer life-saving tickets to Unique, to the charity evening of their event in interventions for children born with trisomy 18 or trisomy 13, and December 2014. apologized that he did not question this practice earlier. He said This allowed 8 of that the Norwegian health care system treats trisomy-children our families in the the way they treated children with 40 years ago, Manchester area and that most colleagues probably share the view he had 10 to attend free of years ago – that it is unethical to save babies with trisomy. He charge. A good stated that guidelines listing diagnosis where life-saving time was had by interventions should be withheld, should be removed completely, all. and that each patient should be treated individually, with focus www.rarechromo.org 30 What is an Independent Supporter and where have parent partnerships gone?

From 1st September 2014 the Parent Partnership Service in To find out who is providing Independent Support in your local every local authority in the UK changed to the Information, authority, or if your IAS service cannot assist please visit the Advice and Support Service (IAS). This service continues to Council for Disabled Children Website provide free, confidential and impartial information, advice and www.councilfordisabledchildren.org.uk/news/ support to parents and carers, and children with any type of january-june-2015/getting-in-touch-with-your- special educational need and/or disabilities (SEND), just as the local-independent-supporter/ . Parent Partnership did. Services have also been extended to This article was written by me, Sarah Trevitt, mum to Maisie offer support to young people aged 16–25 with SEND, in line (-11q; +4p) and Lily. In my spare time (well in term time at least) with the requirements of the Children and Families Act 2014. I work as an Information, advice and support assistant for These services should not be time-limited, so you decide how Supportive Parents who provide the IAS (including independent often you use them. support) service for Bristol, South Gloucestershire and North IAS services cover all aspects of SEND. The kinds of things your Somerset. If you are in these areas and need any assistance IAS service should provide are: please don’t hesitate to get in touch. Our helpline in • A phone helpline. 0117 989 7725 or visit our website for further details • Individual casework, representation and support in preparing www.supportiveparents.org.uk/ . for and attending meetings. • Help in filling in forms and writing letters/reports. • Advice on exclusions Disability Rocks • Support in resolving disagreements, including mediation and Disability Rocks is a not for profit organisation established tribunals. in early 2012 by Richard Sutton, father of a young boy with • Links to local parent support groups and forums. a rare chromosome disorder. Richard wanted to develop The new SEND system requires Local Authorities to transfer all new and innovative ways to help people living with children and young people with statements of SEN to the new disabilities have positive experiences of music and arts as SEND system by 1st April 2018. All pupils with existing it had become clear that live music and arts activities and statements of SEN will have a ‘transfer review’ – that is an involvement can have a hugely positive impact on people’s Education Health and Care (EHC) needs assessment, in lives. However, there were few examples of this being accordance with the Special Educational Needs and Disability supported. Disability Rocks develop new and innovative Regulations 2014. ways to help people living with disabilities have positive In order to help parents, children and young people through this experiences of music and arts. They host events and process the Department for Education has funded extra help for festivals and co-ordinate and support music and arts families until 1st April 2016. This is called Independent Support initiatives which support people of all ages and disabilities. and it will be available from IAS Services and also from some Tickets now available for The Big Tour – 2015 festivals Voluntary Sector providers throughout the country. • Disability Rocks in the North West Independent supporters are trained to help parents, children and Date: Saturday 25th April 2015 young people during the time-limited assessment for an EHC Location: Tatton Park, Cheshire WA16 6QN plan or transfer of a Statement of Special Educational Needs or • Disability Rocks in the Midlands Learning Disability Assessment into an EHC plan. Independent Date: Saturday 9th May 2015 Supporters can support you by: Location: Lea Green, Matlock DE4 5GJ • helping you to understand how to access services; • Disability Rocks in the North • helping you with an assessment to moving from a Statement of Date: Saturday 30th May 2015 SEN to an EHC plan; Location: Nell Bank, Ilkley LS29 0DE • helping you put together a one page profile; • Disability Rocks in London and the South East • working with lots of different services to help you collect all Date: Saturday 20th June 2015 the information needed for your EHC plan; Location: Lambourne End, Essex RM4 1NB • giving you information to help you understand personal budgets. For more details on these vents and how to book, please visit http://disabilityrocks.org/summer-2015-festival-tour Many IAS services have extended to provide extra capacity during or telephone us 0333 800 0199 or email us the EHC assessment process and, in addition, other [email protected] . organisations may operate a stand-alone Independent Support service, depending on your local authority. To find out who your local IAS service is please visit the IAS Website www.iassnetwork.org.uk/find-your-iass/ . 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 723306 | 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 Sarah if: chromosome disorders (please allow 14–21 • You would like any of our information guides days from first contact with Beverly). on specific rare chromosomes disorders. • You would like a copy of our Little Yellow • You would like copies of papers published in book or Unique Tales. the medical literature. • You would like a back issue of the magazine. • You want to help translate any of our guides • You are a professional and need supplies of leaflets/posters. or contribute to new guides. • You would like to become a Local Contact for your area or, if Sarah Wynn – Information Officer you have any questions about becoming a local contact or want T: +44 (0)203 211 1098 to know who your nearest one is. E: [email protected] • If you are already a Local Contact and you need some more leaflets/posters, etc. You should contact JENNY: • You would like any fundraising/publicity items, eg balloons, • For any queries about Unique’s accounts or leaflets, posters, sponsorship forms, etc. finances. • If you would like wristbands or ID cards. • You would like a Unique pyramid collection box or you have any Jenny Knight – Finance Officer questions related to the collection boxes. T: 07811 908696 | E: [email protected] • You need practical information, eg information on grants, trikes, special needs equipment, etc. • Information about our social networking sites. • You cannot get in touch with Beverly and your enquiry is urgent. You should contact Caroline if: Marion Mitchell – Family Support Officer • You are looking to raise money for Unique T: +44 (0)1293 525504 | E: [email protected] and aren’t sure what to do. Caroline will Skype: marionatunique support you throughout your challenge and Disclaimer help you with every aspect of your Although great care has been taken to ensure the accuracy of the information in this magazine, fundraising, including creating an online 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 giving page. 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 Caroline Pocock – Fundraising Officer boards and websites to help families looking for information. This does not imply that we endorse T: +44 (0)1883 723306 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 E: [email protected] other organisations writing in the magazine. www.rarechromo.org 32