We recently said goodbye and thank you to Gill Manvell, who has selflessly served as a Unique trustee for many years. Trustees are volunteers and we couldn’t exist without them. This is an article from the latest Unique magazine (Winter 2023 edition), written by Gill herself, going through her own and the charity’s journey to where we are today…..
In September 2023, Peter and I celebrated the 33rd birthday of our firstborn child, Lucy (“Lulu”) – hard to believe – [see accompanying photo of Lulu last Christmas] and I realise I’ve been a management committee member/Unique trustee for well over 30 years. It has been a pleasure to share knowledge and experience with the group in this way so it is with regret that I have decided to stand down at the October AGM, to make room for new talents.
33 years ago things did not go as planned. The water birth was a non-starter! When she burst into our lives a few weeks early, small weak and sick, Lulu triggered a five-month struggle to explain her unusual features and profound frailty. When a sample of my blood allowed a cytogenetics lab to provide her eventual diagnosis: unbalanced translocation with 5q35.2 duplication and 10p13 deletion: the clinical geneticist predicted that, despite every effort, our daughter would be ‘unlikely to walk and talk’ and we should enjoy her ‘as she is’. In the context of her survival, this seemed a small price to pay.
Although the prediction was accurate, nothing could have prepared us for the journey ahead however, at the same consultation, the genetics counsellor not only “lent” me her textbooks but passed on the telephone number of Edna Knight, who ran the Trisomy 9 Support Group where families shared their news. Edna’s girls were older and we poured over her few photocopied newsletter sheets, absorbing every word.
Other parents joined Edna’s group, including accountant Nigel Barrett (treasurer) and research biologist Beverly Searle. With genetics professor Maj Hulten in attendance, they formed a management committee and the Rare Chromosome Disorder Support Group was born, to meet increasing membership demand and organise a ‘get-together’ for families. Right from the beginning these conferences were fantastic, a chance to hear from leading healthcare professionals in pre-internet times but, more importantly, to spend a relaxed weekend socialising with other families and meeting their children with RCDs. Read Marion’s ‘goodbye’ in the last magazine for more impressions!
Beverly, caring for her daughter, Jenny, at home, fielded calls from parents referred to the group by geneticists and, with her specialist software husband, Trevor, developed the Unique computerised database to store members’ lifelong records, making it possible to find and retrieve invaluable information and put families in contact with each other. This irreplaceable database remains the core asset of Unique, allowing the charity to gather and curate accurate data and respond to inquiries from around the world.
Fundraising efforts by grateful families and grants and donations secured by Nigel, often through his contacts in the world of motorsport, permitted the charity to expand but services still depended upon the goodwill of volunteers. At last, in 1999, a National Lottery grant allowed us to advertise for a salaried Development Officer. Following a rigorous interview process to avoid bias, Beverly was appointed to the full-time role with Marion Mitchell providing part-time support. At 1,200 member families, the website www.rarechromo.org was launched and, in one sense, with Beverly, database and website in place, the stage was set and the rest is history.
In 2003 medical journalist and author Prisca Middlemiss joined the tiny team and hit the ground running to develop the Information Project: authoritative guides to specific rare disorders, written with material mined from the Unique database and affected families, each guide checked meticulously by experts before release.
Behind the scenes, to support expansion and protect trustees, the charity was incorporated in 2005. An unrelenting demand for more member services piled on the pressure as a tiny staff tried, with minimal resources, to maintain a high-quality response to every inquiry. Despite some successes with small grants, the situation felt unsustainable and we sought strategic guidance from business mentors at Pilotlight on clever ways we might increase income and capacity.
Happily, in 2007, things changed. Thanks to a tsunami of enthusiastic activity by members and their friends, families and other contacts, Unique won the top award by public vote in the 2006 RBS/Daily Mail £1m Christmas Giveaway to children’s charities [see photograph: Gill and Lucy, Beverly, Edna, Marion and Robert, celebrating at the cheque presentation in London]. This award was a game changer – while we remained prudent, it allowed us to employ our first fundraiser and expand the staff, including welcoming Sarah and Craig onto the team.
The award also raised our public profile, improving recognition of Unique within the charity sector making it easier to recruit trustees and, at the same time, boosting reserves, placing Unique onto a firmer, more sure footing. By early 2010 membership stood at 7,000 families; now, in 2023, we have getting on for 30,000 families and an influential group that is recognised and admired not only within its own field but in the wider world. Without neglecting its primary role of providing information and support to people seeking a helping hand as they come to terms with an unfamiliar and complex diagnosis, Unique represents members’ interests and meets challenges with confidence.
Meanwhile my family, too, has travelled far and in unforeseen directions. Lulu has a sister with normal chromosomes who, due either to my balanced translocation or a poorly-executed antenatal test, was born extremely prematurely. Like Lulu, she had a fragile start and required months of neonatal intensive support – but left hospital three weeks before her due date and fully breastfed. She has mobility issues but thrives on competition, works in a special school managing children with severe learning disabilities and autism and leads an independent, active life.
We were lucky that our own business provided flexibility throughout the girls’ childhoods. Using the experience of being the parent of two youngsters with severe disabilities at opposite ends of the learning spectrum, I engaged with local children’s charities and became a governor and vice-chair at Lulu’s school when it was placed in special measures, liaising with the local education authority to open the first special school built under the government’s BSF programme. For a few years, thanks to colleagues’ support, I spent as many hours on voluntary work as running our business. Looking back, I don’t know how we managed!
These days Lulu continues to share the family home and follows a weekly timetable of specialist PMLD and ‘drop-in’ activities such as storytelling, music and movement, improvised dance, cycling and drumming and singing workshops, also visiting Central London venues like the South Bank, museums and galleries open to the public where she is recognised and welcomed by frontline staff, parks and shops. Places have to be large enough to accommodate a noisy Lulu in her wheelchair without annoyance to others. She travels by bus with a PA/support worker from her small team of part-timers, people of her own age. Part of the PA’s role is to ensure that Lulu’s hearing aids remain in her ears, not on the pavement or floor of the bus; Lulu is a master of the ‘quick flick’ if she’s irritated, sleepy or just finding sound to be overwhelming.
Lulu is a real ‘people person’. Wherever she goes in London, someone will come up and introduce themselves to Lulu’s companion, saying, “I know Lucy from school/college/a playscheme/an activity/a venue…”. Street people respond warmly to her and she has been known to play a keyboard with a busker. She has charmed others all her life by ignoring them due, no doubt in part, to her small stature and obvious spontaneous enjoyment of life. Her community access is underpinned by a direct payments personal budget funded jointly by local health and adult social care services and managed by us.
She is a sensory person, living in the moment, enjoying movement and verbalising excitedly for much of the time. Healthwise, with continuous attention to her communication choices (to ensure she is happy) and to her diet and lifestyle, protection from poor weather and encouragement to drink and sleep, Lulu’s vitality and immunity are good. Visits, trips and holidays need detailed preparation to ensure that things go smoothly – and we were delighted this year to find that areas we visited on holiday, such as parts of the Lake District, have become accessible to people in wheelchairs.
However prepared we may be, though, everything changes if Lulu has seizures. These clusters began again at puberty and they can affect her vision and behaviour for days, sometimes weeks afterwards, confining her care and support to home while she recovers. Often, Lulu cannot “see” after seizures and it is important that everyone around her provides the touch support needed by people with dual sensory impairment. Keeping Lulu safe 24/7 is a more than full-time job and, because of the risks posed by her fits, Peter and I rarely go away together without her. She is considered to be vulnerable, responds poorly to drugs – and drawing blood to test from anywhere but a scalp vein is almost impossible. This does present worries for her future and efforts continue, in tandem with neurologist, homeopath and osteopath, to improve Lulu’s epilepsy status.
Meanwhile, life is good. We are grateful for our health and time to enjoy it with family and friends. Looking back, there have been wonderful people in our daughters’ lives and I include the lovely families, staff, committee members and trustees of Unique. I look forward to seeing some of you again soon at the forthcoming London mini-conference.