As the Director of Support my role is to develop, implement and manage projects that work directly with patients and families affected by genetic, rare and undiagnosed conditions. I started working at Genetic Alliance UK in 2011 to establish SWAN UK (syndromes without a name), our support network for families of children and young adults affected by undiagnosed genetic conditions. As an ambassador for SWAN UK, I still coordinate the network’s activities at a national level and with Nick Meade, our Director of Policy, have initiated the SWAN Europe alliance to promote the issues affecting undiagnosed families at a European level. More recently I have been managing our Building Rare Communities project to support the creation of new support groups and develop and strengthen existing small groups, as well as overseeing the pilot of our new Rare Resources.
I have a Masters in Anthropology and Development Studies and have previously worked for other disability charities such as Kids and Centre 404. I have a particular interest in developing and providing opportunities for patients, families and parent carers to have an active and informed voice in decisions and processes that affect them.
As Communications and Support Manager for SWAN UK, I work to raise awareness of undiagnosed genetic conditions and the support that SWAN UK offers. I manage the SWAN UK communications channels and work closely with families to share their experiences. I also manage relationships with external stakeholders including media, charitable organisations and healthcare professionals.
I am part of the wider Genetic Alliance UK communications team and I help make families and professionals aware of opportunities they can get involved in and new developments which affect the undiagnosed community. I am the first point of contact for SWAN UK enquiries and enjoy organising family and information events.
I have a background in journalism, marketing and events and am passionate about giving people a platform to tell their stories.
As Communications and Support Officer for SWAN UK, my job is to provide information and support to the SWAN UK community while using our communication channels to raise awareness of the work we do to help children, young adults and families affected by undiagnosed genetic conditions. I contribute towards organising and coordinating SWAN UK events and work closely with our Parent Reps to help them run their SWAN UK local networks. I have a Master’s degree in Anthropology, and my academic background focuses on human reproductive behaviours within different social contexts.
My role is to support the SWAN UK team in all their office-based work and to manage the registration of new members. My background is editorial work in trade publishing but I subsequently became involved in the charity world and worked for a national learning disability charity before I came to Genetic Alliance UK.
I am particularly interested in the impact that raising a child with an undiagnosed genetic condition has on the family as a whole, and in finding ways to support parents and siblings in that position.
Hi, I’m Rachael and I’m the Parent Rep for Newcastle and one of two Parent Reps based in the North East. I live in Newcastle with my husband Dave and our marvellous megabrood,Edith who is nearly eight, Violet who is six and twins Alba and Nell who are four.
When Violet was a baby she didn’t reach her developmental milestones when expected such as rolling, sitting and pulling to stand. She was referred to a physiotherapist at eleven months
old and we were told she had hypermobility. We took this as the answer to her difficulties and believed with physiotherapy intervention she would ‘catch up’. When Violet was 28 months old Alba and Nell were born. By then Violet was also delayed with her speech and language development and learning. When Nell’s development was also delayed and she also had, like Violet, hypermobility, low muscle tone and episodes of hypoglycaemia, we started to think that their difficulties were part of a bigger picture.
We felt confused and alone until meeting another mam who told us about SWAN UK. Through SWAN UK I have found a support network and made some fantastic friends. I am thrilled to be joining the team of Parent Reps, welcoming more members and promoting SWAN UK to professionals.
If you’d like to get in touch email: [email protected] or send me a Facebook message: bit.ly/rachaelford.
Hi, I’m Wendy and I live in South Lanarkshire in Scotland. I’m mum to four children – Caitlin, Sophie, Justin and Charlotte.
My younger two children are swans and are believed to have the same undiagnosed genetic condition. Sadly Justin passed away aged ten in 2014. Charlotte cannot walk or weight-bear; she has limited speech, global developmental delay, hypotonia, bowel problems and requires growth hormone. Justin had all of these issues and was also oxygen dependant. Charlotte now attends the same special needs school that Justin did.
Despite a barrage of tests over the years we have no diagnosis which can be difficult when dealing with professionals. However, on a visit to the genetics department at Glasgow in 2012 we found a SWAN UK leaflet and I am so happy we joined.
SWAN UK has been a lifeline, a friendly ear and has stopped me feeling isolated. Before joining we never fitted in because of the lack of diagnosis, but now I have a support network and friends who just ‘get it’. It is so good to know that I am not alone and always have someone to talk to.
I have found that there can be a huge lack of support for undiagnosed families and a lack of understanding from some professionals. I look forward to spreading the word about SWAN UK in Scotland to hopefully help as many families as possible, and to liaise with professionals to foster greater understanding.
Hello, my name is Claudia and I live a lovely village just outside Winchester, Hampshire. I live with my husband Warren and my three gorgeous boys. Broden (eleven), Chase (five) and my swan Trent (four).
We realised from very early on that there was something different about Trent. He wasn’t hitting his milestones, feeding was an issue and he used to literally scream for hours on end. We started to get some diagnoses including global developmental delay (GDD) and autism. He is also non-verbal and hyper-sensitive. Trent has only been walking for just over a year.
What makes him our swan is that he has undiagnosed brain damage. We have had two MRI scans, both with very different results, but no answers. While there was information available on GDD and autism, that was easily accessible, and we got lots of leaflets given to us from our paediatrician, there wasn’t anything about how to live without a diagnosis. That’s when I found SWAN UK. It is comforting to know that there are families out there that truly know what it is like having a swan. I am really looking forward to meeting other swan families and introducing them to the SWAN UK support network.
Hi I’m Amanda, a single mum to three boys and I live in Bournemouth, Dorset. My boys are Louie 15, Oscar 13 and Harry 10. My younger two are both swans and have a number of various diagnoses but no explanation or over all diagnosis for their issues. Both have duplication of chromosome 8q13.2; this is from me and associated with brain development. All three of us have a diagnosis of an Autistic Spectrum Disorder. My swans also have duplication of chromosome 3p26.3, some physical developmental issues, connective tissue disorder, joint hypermobility syndrome, bowel issues and sleep disorder. Harry also has motor tics and Oscar is selective mute. They attend mainstream school and Oscar has a full time one to one. At times they are unable to move or walk because of their joints and connective tissues disorder. This can cause pain and swelling and at times Oscar needs a wheelchair. I have tried many support groups as each diagnosis was made and I never felt as if I fitted into any of these groups. I was told about SWAN UK and how they support families of children that have undiagnosed genetic conditions and immediately I knew I had found the place for me. They support such a range of conditions from moderate to severely complex medical and learning difficulties. None of our children are the same, however, we all understand each other and are on the same journey so I no longer feel alone and isolated.
My hope going forward is that I can provide a local support network. I will be setting up some regular stay and plays and coffee meet ups to bring families together, and eventually some family days out. I will also be promoting SWAN UK through local groups and information days to find more families who need support. I am keen to identify local medical professionals to connect with and educate them about SWAN UK and undiagnosed genetic conditions, the impact on families and how to put them in contact with SWAN UK. I’m really looking forward to meeting and getting to know more SWAN UK families too.
Hi, I’m Amy and I am Parent Rep for Wales, covering the Cardiff area. I have organised a few SWAN UK meetups over the years, and previously held a similar role for another children’s charity for around four years. I joined SWAN UK around eight years ago when my eldest was two years old. Having been born prematurely, and suffering from numerous health setbacks and challenges, we spent the following five years visiting a number of professionals who were unable to offer my child an overall diagnosis. This of course meant that not only was support lacking, but that his needs were also being neglected. By this time, I had also gone on to have a second child with similar difficulties, although with more severe communication and behavioural issues. Thankfully in 2015 both my children were taken on by a new team of professionals who were extremely supportive and were able to offer partial diagnoses for them both. Although there are a few issues that are still a bit of a mystery, my children’s needs are finally being supported and are progressing well in their own quirky way! Having given a talk to professionals in my role as Parent Rep I’m keen to engage in more public speaking as I think it’s really important that professionals work closely with parents (who are often the experts on their child’s needs!) to best support not only the undiagnosed child, but the family as a whole too. The SWAN UK network really helped me during those early years where we didn’t quite fit into any other group. Being a member also taught me to cherish each and every day with my amazing children, and to live life to the maximum. Although all our children are all very, very different, we are united as one family and that is special. I am really looking forward to developing the undiagnosed network in Cardiff – it’s been a long time coming!
Hi, I’m Sara and I live in Leeds with my husband Dave and our two swans, Aidan who is six and Rhiannon who is 11. I’m also a swan myself. Aidan is the youngest and is more complex and that’s how we found out about SWAN UK. I was on a feeding tube awareness page when SWAN UK popped up on the screen and I thought ‘oh my god, that’s us’. We’ve been members for four years now and since finding SWAN UK I no longer feel alone.
I am a qualified rugby league coach for the Rugby Football League and used to volunteer for them before as well as the Church Lads & Church Girls Brigade before I got ill. I’ve also been a moderator for another organisation’s message board where I helped to support other families using my own experience, which is what I want to do again with SWAN UK.
I’d considered being a Parent Rep for a while as I’d arranged a few coffee mornings for SWAN UK members in West Yorkshire and I thought it seemed to be next logical step. I want to give support back to others while things are stable for our family, especially for new members who are feeling alone like we did all those years ago.