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Committee Members
Unique has a Management Committee of seven volunteers to
support staff members who carry out most of the day to day
work of the group. Let us introduce you to some of the committee.
Edna Knight - Founder, Life President, Trustee
I helped to establish Unique from the beginning. I have
four daughters, two with a duplication of part of the
short arm of chromosome 9 - Wendy (17.7.65) and Julie
(26.10.71). My youngest daughter Claire (6.8.82) has a
balanced insertional translocation like myself, whilst
my second daughter Linda has normal chromosomes.
Wendy and Julie are doing well after very slow starts.
They have reading skills and are able to travel alone on
buses locally. Wendy attends a sheltered development
centre and goes out to large local companies and
colleges for work experience. Julie works at the DSS,
with support from the Shaw Trust. I am pleased with
their progress so far and they are still progressing and
learning to do new things. Development continues even
in their 20s and 30s.
As coordinator, I keep a watchful eye on the progress of
Unique and liaise with committee members, without
whom the group could not run. With the employment of
Beverly Searle as Chief Executive Officer, a considerable
element of the burden of running the group has been lifted
from me. I am here to help with the smooth running of the
group and to encourage others. There are a great many
diverse activities within Unique such as coordinating the
compilation and dispatch of the thrice-yearly newsletter,
collating information for the annual conference and
working with many other members on various tasks.
Most importantly though I am here both to ensure that the
organisation keeps to its own guidelines and to run a
group that is both informative and sensitive to the needs
of parents.
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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.
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Eleanor Fiske - 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.
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Maj Hultén - 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.
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Carey Hunt - Graphic Designer
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Marie Layng
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Lydia Dickie
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