Staff Members

Beverly Searle - Chief Executive Officer 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.

Prisca Middlemiss - 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.

Satnam Kaur Juttla - Information Officer My story started in April 2003, when our daughter, Gurpreet, was born. She has a chromosome 15q26.1 deletion. We had no idea that she had any problems before she was born. Throughout my pregnancy I was told that she was small and that my dates were wrong. We have no previous family history of any congenital problems and as I am short, the doctors just assumed that Gurpreet was small. We spent the first six weeks in hospital, four weeks at our local hospital and two weeks at Great Ormond Street Hospital (GOSH). It was only after we got to GOSH that I felt she would be ok. They were amazing. We spent the next two years in and out of GOSH every month. It was the most trying period for all of us. But the struggle was worth it and Gurpreet is the most amazing girl and the most strong for coping with it all. She’s our little bundle of Joy. Unique was the very first place where I actually found out that I could get in touch with other families whose children had a similar deletion to Gurpreet’s. I joined Unique as a member in 2003. I remember Beverly sending me all this wonderful information – and the yellow book. It really helped me understand the situation much better and deal with it better as well. Over the last four and a half years, I feel like I’ve lived a lifetime! I’ve experienced the stigma that goes with having a disabled child in an ethnic minority community. I’m a Sikh by birth and it’s saddened me greatly to realise that due to non-awareness in the communities, people just prefer to stare, ignore the situation or say I must have done something wrong or eaten or thought something wrong during my pregnancy, or, as in my experience, to ‘change the problem’. I found out that, when asked why Gurpreet is the way she is, part of our family just preferred to say she was deprived of oxygen during birth – knowing full well what the real issues are. When I saw the vacancy for an Information Officer, I immediately thought WOW! That’s what I’ve been looking for and what I felt I really wanted to do. It was an amazing feeling of discovery and belonging. Not to mention a very hard and gruelling interview process. I’m an accountant by profession but after the last four years I felt I’d be much happier helping other families. I am married to my husband, Sarvjit and we’re blessed with two girls Gurpreet and Amardeep. Amardeep was born last October. She has normal chromosomes. After Gurpreet, we hadn’t planned to have any more children, so they both truly are miracle girls. My husband and I both grew up in Kenya and migrated to England in 1999. I speak Kiswahili, Punjabi, Hindi and am able to understand Gujarati and Urdu – and converse a little in them. I started working for Unique on a part time basis in July 2007. I’m hoping that I can use my skills and experiences to help and develop Unique. I work with Beverly, mainly answering queries and writing reports for new and existing Unique families and professionals, and help in updating the database.

Sarah Wynn - 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.