Staff Members

Beverly Searle BSc(Hons) PhD CBiol MSB Chief Executive Officer Website Editor I was appointed to the post of Development Officer in April 1999 and in 2003 I was made Development Director. More recently I have become Chief Executive Officer. I worked for Unique in a voluntary capacity for some years as Database coordinator and was a member of the management committee from the early 1990’s. I joined the group shortly after the birth of my daughter, Jenny, in February 1990. Jenny has a large deletion of the short arm of chromosome 18; she is profoundly learning and physically disabled and has complex health needs. Jenny’s elder brother Jonathan has a mild heart defect, although his chromosomes are normal. Before I had my children, I worked for many years as a research scientist, being awarded the degree of PhD for my research into aspects of the biochemistry and genetics of yeast. What a coincidence then that one of my children should be born with a chromosomal defect! After the children were born, I worked part time as a freelance abstractor of current literature for a pharmacological/medical publishing company. Since Jenny’s birth, I have devoted a great deal of my time and energy to promoting the needs of families with disabled children. As one time Vice-Chair of Action for Carers (Surrey) and a founder member of the East Surrey Carer’s Support Association, I have had a lot of experience working with Social Services and Health Authority representatives. I also served for four years as a Non- Executive Director of a NHS Trust for People with Learning Disabilities. Most enjoyably, though, I have been involved in the running of Unique. My husband Trevor is a computer software specialist and together we have developed Unique’s members’ database and the group’s website. When I first had Jenny, I was very upset and really thought that was the end of any decent life for me. Well, even now, it is difficult at times but I can honestly say that in most ways, my life has changed immeasurably for the better and I have met some wonderful people because of Jenny. As for Jenny, despite her disabilities, she is a delightful child and her sweet nature shines through. I handle all the initial enquiries from new families and professionals, making sure that we provide them with the best information and ongoing support we can. Besides line-managing our information team and being responsible for our databases, my major tasks include developing the services Unique provides, networking with researchers and other support groups and raising the profile of rare chromosome disorders and the work of Unique among professionals and the general public. Explanation of website editor's qualifications: BSc(Hons) - Batchelor of Science degree with Honours in Applied Biology PhD - Doctor of Philosophy degree in Biological Sciences CBiol - Chartered Biologist MSB - Member of the Society of Biology

Prisca Middlemiss MA(Oxon), Dip Health Promotion Senior Information Officer One of my earliest childhood memories is of my father coming home from work and announcing that the number of human chromosomes had at last been correctly counted. A Swede, Albert Levan, and an Indonesian, Joe- Hin Tjio, had overturned the prevailing wisdom that humans, like chimpanzees and gorillas, had 24 pairs of chromosomes. Using improved techniques, as Maj Hultén so charmingly recounts, these scientists had shown that we actually have 23 pairs. As an academic physiologist, my father thought the momentous genetic discoveries of the 1950s would interest his three young children. He was right, but it wasn’t for another thirty years that these facts were to take on a personal significance for my husband Nigel and myself, when our second son Toby was born with a variety of medical problems. Sadly, Toby never recovered from surgery the night after his birth to repair his diaphragmatic hernia. Before he died, blood samples were sent for analysis and within weeks we learned that the underlying cause of his multiple anomalies was a partial trisomy of chromosome 22. Stepwise investigations then revealed that not only did I carry an 11;22 balanced translocation but my brother Fabian and my sister Ann had exactly the same chromosomal re-arrangement. As my mother had normal chromosomes, the conclusion that the translocation was passed on by my father was inescapable. He was no longer alive to discover this but would, I think, have been intrigued and, given my parents’ apparently problem-free reproductive history, mildly surprised. Amniocentesis in my next pregnancy showed the same balanced 11;22 translocation, so since the birth of our daughter Sophie in 1983 it now spans three generations. Professionally, I have worked in medical journalism for most of my life, starting out as editor of the then British Diabetic Association’s journal Balance, and later contributing to a range of medical and consumer publications, as well as writing three child health handbooks. Working as Unique’s Information Officer offers a wonderful opportunity for the personal and professional strands of my life to intertwine. It is very exciting indeed to come on board for the launch of Unique’s innovative project to compile and publish information on the rare and, in some cases, very rare chromosome disorders that affect each of us.

Sarah Wynn BSc(Hons) PhD DIC Information Officer For many years I have been working as a medical research scientist. In 1999 I was awarded a PhD in Genetics from Imperial College, the subject of my thesis being Down’s Syndrome. I then spent a number of years working as a developmental biologist at the University of Hong Kong. It was while living and working in Hong Kong that I suffered three consecutive miscarriages. Subsequent investigations to try to determine the cause revealed that my husband, Marc, carries a 5;7 balanced translocation. In my quest for more information I discovered Unique and we became members in the summer of 2004. Meanwhile, we had returned to live in the UK and I took up a new research position at the National Institute of Medical Research. I became pregnant again. After the initial nervousness, the pregnancy progressed well and we decided to undergo chorionic villus sampling (CVS) to determine the baby’s chromosome make-up. The results revealed that Daisy, born in May 2005, also carries the same chromosomal re-arrangement. We have since had a second daughter, Martha, born in September 2006, who has normal chromosomes. While on maternity leave from after having Martha, the Unique newsletter dropped through the letterbox and I sat down to read the many moving and inspirational stories from members worldwide. However, this edition also arrived with a leaflet outlining a job opening within Unique: Unique were looking for an Information Officer to help Prisca and Beverly. What a perfect opportunity to put my genetics background to good use! I hastily put together my application and was overjoyed to be welcomed onboard. I am very excited to be joining such a fantastic organisation, and looking forward to helping all those with, or affected by, chromosome disorders.

Julie Griffin Finance and Fundraising Officer I work part time for Unique looking after the money side of things, pay out cheques, pay in receipts, control regular giving, tax, insurance and statutory requirements like annual accounts, etc. I also work with Beverly in applying for new grants and looking at new ways we can make the most of the funds that we have. I work part time as a marketing manager with LTSB Business at their Head Office in Bristol. I have worked for the Bank since 1986 in a variety of roles and am enjoying the marketing role I do now, which I hope Unique benefits from too. I am married to Patrick and we had two children, Nathan (28.2.97) and Georgina (19.11.01 - 5.12.03). Georgina had an unbalanced translocation, with duplication on 4q and small deletion on 8p. She had severe learning difficulties, was tube fed, and developed epilepsy at 5 months old. She died just 2 weeks after her second birthday following an operation for a gastrostomy and malrotation of the bowel, she unfortunately developed Influenza A and Adenovirus and never regained consciousness. Working for Unique I have gained an enthusiasm to give back something to the group that supported me so well during all those difficult times. I am also actively involved in fundraising events, especially ones which mean having a good time as well. Having Georgina changed our lives in so many ways, but I wouldn’t have had it any other way as we are all richer as a tribute to her.

Marion Mitchell Family Support Officer I joined the group in May 1995, just after my son Robert (28.4.94) was diagnosed with an inverted duplication of chromosome 15 (idic 15). Rob has severe learning difficulties and attends a specialist secondary school for children with learning difficulties (mild, moderate, severe and profound). Rob has sensory dysfunction, and very poor fine motor skills. Rob is non-verbal and communicates using objects of reference (cup for drink, etc.) He has mobility problems caused mainly by his hypotonia (floppiness), abnormal gait and subluxating hips. Rob also has epilepsy and eczema. We were given Rob’s diagnosis at the age of 1 and were lucky enough to be given Unique’s details that day by our local child development centre. I am married to Steve and Rob is our only child. I am so glad I wasn’t put in the position of being offered an amniocentesis (I was a year younger than the offering age), because I wasn’t given an opportunity to make the difficult decision that some families have to make, besides which, I was unable to have any more children (unrelated to Rob’s disorder which is de novo [new]). Although we have been through some difficult times I can’t imagine life without Rob, he is an absolute joy and the pleasure he gives us is immeasurable. I would never have had that loving little boy who throws his arms around me and just wants the reassurance of a hug and a kiss. I love him to bits! In 1996 I became Information Officer for the group and then Administrative Officer in 1999. In June 2003 I became Family Support Officer, which covers all of my supportive roles. I send out all of the new members welcome packs, I coordinate our local contacts’ around the world and since 1996/7 I have organised Unique’s conferences and meetings. As area representative for West Sussex, I try my best to help raise the profile of Unique in the Sussex area. I am proud to be a part of such a wonderful organisation.

Craig Mitchell BA(Hons), PGCE Operations Manager Since joining Unique as Operations Manager at the beginning of May, I have been tasked with a number of different and exciting challenges to help the group to develop further but none has stumped me as much as the challenge of writing this piece! It’s so difficult to write about yourself but I’m ready for the challenge so here goes....! My first contact with Unique was in late 2003 when my daughter Ella who is now 5, was diagnosed as having a chromosome 6p 25 deletion. She was our first born and this was the culmination of a difficult period during which she had suffered infantile spasms (a severe form of epilepsy) and we had spent a period in Guy’s Hospital in London. Very few of the doctors had seen infantile spasms and after a number of fruitless consultations we resorted to videoing the spasms. Though this was a very tough thing to do, it helped in achieving a diagnosis and getting the required treatment. After the deletion was diagnosed (and this is seemingly in common with the experiences of lots of Unique families), the doctors were great but knew very little about Ella’s condition and we were referred to a geneticist who in turn referred us to Unique. Having trawled the internet and read lots of impenetrable (and some quite scary) medical literature, we found the information from Unique to be both accessible and straightforward. We realised immediately that we had a source of support, information and advice and that there were lots of families in a similar position, struggling to come to terms with a diagnosis but not alone. Through our membership of Unique we have corresponded with a number of families and become very good friends with a family who have a daughter with a completely different chromosome disorder to Ella’s. As many of you will be only too aware, the constant round of hospital appointments and sessions with various specialists can be tough going but we are able to offer each other support and advice to make things easier. I think that’s one of the keys with Unique, families who may be facing quite different challenges are able to come together and provide mutual help & support. Ella now attends a special school near our home in Kent as she has learning difficulties with autism. She wears glasses and has grommets fitted in her ears, has very flat feet and suffers with a skin condition on her legs called morphoea which can affect mobility and is being treated with very strong medication (which she hates!). She has very little speech and is learning to communicate through Makaton and PECS (picture exchange system) but despite these challenges she is an absolute joy, full of life and very happy (although it’s amazing how children with communication issues often manage to show when they are unhappy too!). On Christmas day 2007, my wife Gemma gave birth to Ella’s sister Holly (Holly has normal chromosomes) and between them they make more noise than the average football crowd! When I saw the ad for the newly-created post of Operations Manager at Unique, the chance to work in an organisation which I not only believed in strongly but which had such a direct benefit to my own family was too good to pass up and I was delighted when (after a very thorough interviewing process) Beverly and Gill offered me the position. The main areas I will be focusing on in the coming months are growing the organisation’s capacity and infrastructure to meet the needs of an increasing membership base, developing systems to support the specialist services team and playing a full part in the all important area of our fundraising effort. My background is in the area of communications so I will look to bring a fresh and creative approach where possible. If any of you think you may be able to help with any of that (or you know may someone who can), if you have any ideas for fundraising or raising awareness of Unique & its work or you would like to get involved in some way, however small it may seem, then please don’t be shy! In the short time I have been on board I have been amazed at how much is done by such a small team and how much knowledge & experience we have on the staff but we really need you! Feel free to contact me at craig@rarechromo.org and I’d love to hear from you, even if it’s just to say Hi!