Committee Members

Edna Knight MBE

Founder, Life President, Trustee

Gillian Manvell

Acting Chair, Trustee

In 2005, following 12 years as a member of the management committee, I was honoured to become the first acting chair of Unique during its transition from registered charity to a charitable company limited by guarantee.
In 1983 my partner, Peter, and I first met as founder members of a company designing technology for schools. In 1990 our first child, Lucy, prepared for and awaited with great expectations, was born a little early, in hospital not in water at home as planned, small for dates and with unusual features. Her first days were miserable as she would not feed, failed to thrive, could not sleep, cried constantly and went on to develop pneumonia. Lucy and I lived together in a London teaching hospital for some nightmarish months while she underwent daily tests, intensive treatments for imbalances in her blood chemistry and to fight a spectrum of infections, an operation to correct a stomach blockage and attempts to make her gain weight. Eventually she was diagnosed with an unbalanced translocation between chromosomes 5 and 10 and to our enormous relief we were released, with a lifelong prescription drug, to manage as best we could at home. A paediatrician told Peter and me that we, her parents, would always be the experts on Lucy’s care since nobody else would ever have more insight into her condition. When Lucy was 9 months old, we had our first consultation with the community child development team and I remember outlining her life history to date at that meeting, surprising myself with the medical knowledge that we had acquired. We were treated with respect, our daughter perceived to be a unique case with unknown prognosis. The regional genetics centre wrote a paper on her, focusing on how the delay in Lucy’s diagnosis might be avoided in future by other clinicians faced with similar symptoms. During our initial consultation with a clinical geneticist and genetics counsellor, we had been told of Edna Knight and her small support group. Once home, I called Edna out of curiosity and met with enormous kindness and patience. From reading the few typewritten pages of a newsletter she sent to me, I discovered that we were not alone in our experiences. We met a Hertfordshire family with a 10p- daughter. Although when we made contact, we found that this child was of normal stature and therefore much larger than Lucy, the girls did have some other features in common and we picked up very helpful advice about hearing aids and educational approach. There was one startling moment while we looked at birth photos - the newborns were identical and my heart skipped a beat when I saw Lucy in another mother’s arms. In that one moment we understood more about chromosomal inheritance than from reading all the theory.
Just before Lucy’s first birthday our second daughter was born, with normal chromosomes but extremely prematurely, spending her first months in a neonatal unit, so Peter and I had our hands full for a long time with two very vulnerable infants. We entered the brave new world of ‘disability’ and discovered the anger, frustration and raw courage of many parents shouldering intolerable burdens. We discovered, too, the special people who run voluntary organisations, doing their best to befriend families and fill the gaps left by statutory services in providing information and support on schooling, benefits, accessible play, respite care and treatments. Over the years we found and practised several additional therapies to optimise the girls’ health and development. Now I sit on the board of the Osteopathic Centre for Children, which has treated our second daughter since her early birth. In 2007 our girls are healthy teenagers, both wheelchair users. Lucy attends a special secondary school for students with severe learning difficulties and complex needs. Until accepting the chair of Unique, I was governor and vice-chair of her school and involved in the local authority’s Building Schools for the Future, Every Child Matters and Extended Schools programmes. Lucy’s sister attends a mainstream secondary in a neighbouring borough where she is preparing for her GCSEs and hoping to go on to university. She loves horse riding and plays wheelchair basketball - and filmed as an ‘extra’ in the children’s TV series, "Desperados".
Peter and I are still involved together both in the business and at home where our lives just become busier and busier. We are piloting Direct Payments and ‘In Control’ for Lucy as she is now in ‘Transition’ (from Children’s to Adult Services) - and last year enjoyed her first experience of respite care, in a children’s hospice. Lucy is of tiny stature and has enormous energy and strength, charging around on her hands and knees and communicating loudly and, whenever possible, physically, with anyone who will give her attention. She is a great character, much loved by many, and a great catalyst for smiles from complete strangers. Parenthood has not been what we expected - not just different but totally demanding. We have experienced overwhelming sorrow alongside super-human quantities of empathy, energy, vigilance and compassion. Being parents to our girls has been also humbling, rewarding and full of love. Unique has been there for us at every step with magazines, technical information, conferences, friendship and links with other families. As its chair, I have worked with trustee directors, staff and Pilotlight, an organisation that marries small charities to business mentors, on a new operating plan to take us through to 2011. As a result we shall see an expansion in services to existing members with older ‘children’ and in our capacity to meet the needs of thousands of new families from all corners of the UK and farther afield as Unique reaches out to beat the isolation of rare chromosome disorders. We shall be working hard to educate the professionals whose job it is to support our families and to increase public awareness of the challenges that we all face.
Our vision is of a society that values and embraces the diversity of rare chromosome disorders and supports, without prejudice, all people affected by them and the life choices they make. We hope that we can count on your support. To make this happen, we need donations of time and money. Unique will put both to good use. To participate in our work, please email info@rarechromo.org or click the Donations & Fundraising menu option on the left. Thank you for your visit.

Eleanor Fiske B.Com, B.Proc

Secretary, Trustee

I joined Unique when my son, George, was a few months old. George had a bumpy start to life and didn’t leave hospital for several months. He had open-heart surgery, a brain haemorrhage, feeding difficulties, lots of chest infections, breathing problems and developmental delay.
Within days of George’s birth, the geneticist was called in to try to diagnose the cause of all his problems. The medical professionals were certain that George had a syndrome or chromosomal disorder because he had so many birth defects. Despite extensive testing, they couldn’t come up with a diagnosis. It was a bleak phase in my life: I was exhausted; my marriage was crumbling under the strain and I felt very scared about how I was going to cope with George on my own. It was a stroke of luck that I saw a Unique poster in Guys hospital and decided to call. Talking to Beverly was a turning point. She was kind, supportive and helped me understand more about genetics and why it can be so difficult to diagnose microdeletion syndromes. Unique was the only support group that I had contacted which seemed to have expert knowledge (I only found out later that Beverly has a PhD in genetics). Unique understood my insatiable thirst for information.
When my member’s welcome pack from Unique arrived, I read through the Little Yellow Book and the newsletter dozens of times with tears rolling down my cheeks. At last, I had found other families who were facing the same challenges. I took great courage from reading about Edna (Unique’s Founder and President). Edna has raised her four daughters mostly on her own, two of whom are affected by rare chromosome disorders and on top of that managed to set up Unique. What an inspiration!
George is 5 now and gives me more joy than I could ever have imagined possible. He isn’t able to walk, but he bottom-shuffles with speed. He isn’t able to talk, but his infectious laugh tells me all I need to know. And he gives great cuddles. His health has improved and he’s seldom in hospital now.
A couple of years ago, when Unique appealed for someone to join the management committee and take minutes, I jumped at the chance to give something back to the charity that had been so supportive to George and me. And it’s been fun. In the short time that I’ve been on the management committee, Unique has grown and developed tremendously. Our new Chair, Gill Manvell, is leading us in new and exciting directions. We are committed to providing the best possible information about rare chromosome disorders. Together, we will beat the isolation of rare chromosome disorders. If you think you can help us with this in any way, please contact us.

David Williams ACIB MCIM DipM MBA (Bath)

Trustee

I first became aware of Unique when a close friend and colleague, Julie Griffin, had a little girl, Georgina, who was born with a RCD. Georgina had an unbalanced translocation, with duplication on 4q and small deletion on 8p and very sadly died shortly after her second birthday in 2003. During Georgina's life, I came to know her very well and was keen to support Julie and Unique is various fundraising events, starting with the Surf to Sunset relay in 2004. Since then I have remained a close supporter of Unique and was delighted to have the chance to join Unique as a Trustee and Non Executive Director in 2008, to support the Management Team with the strategic development of the organisation. I am a senior banker and marketing strategist, with 20 years experience in the UK Financial Services industry. I am currently Head of Customer Experience with Lloyds TSB Commercial Banking, where I am responsible for customer & market insight, research & development into new customer propositions, segment management, customer experience management and business development. Prior to joining Lloyds TSB, I served as Director of Marketing & Strategy at Bristol & West Financial Services (part of the Bank of Ireland Group). I have also held senior strategy consulting roles with IBM Business Consulting Services and with my own consultancy business. I am an Associate of the Chartered Institute of Bankers (1996), Graduate of the Chartered Institute of Marketing (1997), Associate of the Chartered Institute of Management Consultants (2002) and hold a Masters in Business Administration from the University of Bath (1999). I am married, with two young children and live in Gloucestershire, England

Maj Hultén BSc(Hons) PhD MD FRCPath

Chief Medical Advisor

When I was little I lived in a small town in southern Sweden. Every Sunday I saw marches of unusual looking children walking hand in hand in the street outside our house. My mother told me that they lived all together, because their parents had found it difficult to look after them. She also said that sometimes it could happen that there was more than one child in a family with similar problems. I was hooked and years later decided to study Psychology and Education at the University of Stockholm to learn more about what could cause such problems and how they could be overcome. I took my exams, but was disappointed not finding any real answers to my questions. Genetics I thought then might be a better bet. This also turned out to be frustrating, not least because formalities at the time dictated that courses in Genetics were only open to students who had spent several years studying Zoology and Botany and who had also passed an entrance exam. Luckily I managed to strike a deal with the Professor to the effect that if against all odds, I would be ranking no 1 in the Genetics Entrance Exam, he would accept me regardless. This was hard work, but it did work. I found the Genetics course fascinating, yet disappointing, primarily because the curriculum mostly concerned bacteria, fruitflies and plants and statistics, hardly anything that could explain learning disabilities in children. In my final year I had to do a special project, taking a couple of months. I was offered a number of projects (17 in total) pushing around and counting different types of fruitflies under a dissecting microscope. I declined them all, and said I should like to look at human chromosomes. This turned out to be a decisive turning point. It was arranged for me to be supervised by a Professor Levan, who had been looking at mouse chromosomes, particularly in tumours. (As it happened this was in the same small town in southern Sweden, where I had grown up). I was given a project, studying the effects of radiation treatment on mouse tumours But, lo and behold, I later found out that work on human chromosomes was actually going on in the same Department! The night before Christmas Eve in 1955 I was offered to peer down the microscope to look at beautiful spreads of human chromosomes. This was the first time human chromosomes could be correctly counted and proper photographs taken. It is a truism to say that I can remember it as if it was yesterday- the stinging smell of the chromosome stain (Acetic Orcein) blending together with that of Turkish coffee made by the visiting scientist, Joe Hin Tjio, who had produced the chromosome preparations, squashing the cells between two pieces of glass making his thumbs bright red also. Sitting on a high laboratory stool I was drumming my legs against the bench in excitement, while pointing out to Dr Tjio that it could now be possible to find out if some people with learning disabilities may have chromosome abnormalities such as trisomies, monosomies, translocations, insertions, inversions, rings, duplications and deletions, previously only seen in fruitflies and plants, as if he would not have realised this by himself. I decided on the spot to study medicine, hoping that Medical Genetics would one day become a discipline, where the study of chromosomes would be very important. This was now more than 40 years ago. I have worked with chromosomes and genetic counselling ever since. One of the challenges I faced was to convince Edna Knight to take me on board as Medical Advisor to the Rare Chromosome Disorder Support Group. I am glad she eventually did around 15 years ago. I should add that my brother has had a child with a Chromosome Disorder, a deletion of the long arm of chromosome 8. He and my sister-in-law have not had the benefit of a Support Group. My vision is that Unique one day will be renowned not only for the help the Group provides to families in the UK (and some other countries already) but also for the powerful stimulus it has meant for the creation of similar Groups in many, many other countries. As far as I am aware Rare Chromosome Disorders are equally common among all races and all different parts of the world. So, in this respect we are not Unique! I also nourish a dream that never again should a doctor turn around to parents saying- ‘Your child has got a very rare Chromosome Disorder. I am afraid I know nothing about it!’ As I am sure many parents have, I have found this very off putting. It should of course not have happened in the past, and let us hope the mission of Unique will imply this type of ignorance becomes increasingly rare in the future.