As one of the Information Officer’s at Unique, my role is to support families with rare chromosome and specific single gene disorders. I also provide information to both families and professionals, answer questions, and I can put families in touch with each other, based on their disorder, or symptoms. And it’s great that I’m still in touch with my clinical practice as I work 1 day a week as a midwife at Horsham Hospital.
How did you become the Information Officer at Unique?
I have worked as a midwife for over 26 years. While I was working as an antenatal screening midwife at East Surrey Hospital, I completed one of the postgraduate genomics modules at St George’s University of London. This is where I first heard about Unique.
What is Unique and what does it do?
Unique is a registered charity and relies solely on donations. It receives no government funding. We aim to provide accurate information and support in a user friendly accessible way. We also aim to reduce social isolation for those families affected by a rare chromosome disorder, copy number variant or single gene disorder associated with developmental delay/ learning difficulties and to raise awareness in the public. Unique is for those families where a specific support group doesn’t exist.
What happens when someone contacts Unique?
In the past, families would typically contact us when their child was between 6 months and a year old, when they were delayed reaching milestones. Now, more families are contacting us during their pregnancy and in the newborn period.
When families first contact us, we find out if they would like to join us as a member. Just under half of our members live in the UK and the rest live across the globe. We enter their details on our database and provide them with access to our resources and information e.g. After diagnosis, What’s next? We ask for their genetic information i.e. their specific genetic, chromosome or copy number variant and ask if they would like to be put in touch with other families; sometimes we can match families by age and location.
We have a wide range of family friendly resources and guides covering topics like education, behaviour, communication and many more. Many were written by a former Unique colleague with the lived experience of caring for a disabled child.
How do Unique’s members get in touch with each other?
If families are interested and would like to be in touch with other families, we can do this, usually by email. We also have a closed Facebook group just for our members which provides a safe space for them to share concerns, celebrate achievements and ask questions.
We also hold regional face-to-face Family Day events in the UK. This gives families a chance to meet people like themselves, in a non- judgemental space and just be themselves. We have fun events like face painting and invite the local Clinical and laboratory Genetics Teams so that families have an opportunity to hear from them and ask questions in an informal setting.
Unique holds a lot of information about families, can researchers and other interested parties have access to it?
Data protection laws and GDPR are applicable to Unique. Our data is stored securely on a protected server. Unique do not provide any identifiable information to researchers and other interested parties, but sometimes provide anonymised phenotype data.
What is the most challenging thing about your job?
Government spending cuts have impacted health and social care services. This means that for many of our families, the services that they need either, don’t exist, or there are really long waiting lists. Some of the waiting times for an initial appointment with Clinical Genetics and CAMHS can be up to several years.
What is the most rewarding thing about your job?
It is so positive to be able to help and give resources to our services users. I am passionate about giving them a “listening ear” and support at a tough time. Some of our members just need someone to talk to and a lot of them are desperate for information about the condition that affects their child and family in an accessible, bite sized type format. We have information and guides for children and families in standard and Easy Read versions.
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