Rare gems: How Unique supports its diverse community

The CEO of this charity first found the group when her husband was identified as carrying a balanced translocation – a genetic variant now shared by two of their three children. After joining the team a few years later, in 2021, Sarah Wynn stepped into the top role at Unique – a platform supporting, informing and networking families affected by rare chromosome and gene disorders.

“This all started in 1984 with just five families, as the ‘Trisomy 9 Support Group’, but it was soon clear that other families with rare genetic conditions needed support and connections, so Unique expanded to include all rare chromosome disorders associated with learning disabilities or developmental delay,” says Sarah.

“Advances in technology mean that genetic testing has become more and more refined and sensitive over the years and once sequencing was introduced – which could detect changes down to one letter in a single gene – we expanded to include gene disorders, as well as chromosome disorders.”

Unique now has more than 30,000 member families from 120 countries and their mission still holds strong: to reduce the isolation that families face when receiving a diagnosis of a rare genetic condition.

“Unique is made up of all kinds of people from all over the world, speaking many different languages and being affected by over 1000 different conditions, but we are one community,” says Sarah. “A very special, diverse and inclusive one!”

Here, we chat with Sarah about how Unique continues to support and connect its global collective.

The families you help are raising children with a vast range of diagnoses and needs. What common challenges do they face?

There are a number of common challenges faced by the families we support and one of the most universal is a lack of awareness and information about their or their child’s condition, together with the challenges of navigating the health and education system. Unique aims to fill this information gap by producing high quality, family-friendly information guides for a whole range of chromosome and gene disorders.

While we have hundreds available on our website, we still have many more that need to be produced. They are a lifeline to families at the point of diagnosis – outlining what to expect both now and in the future. Our two part-time Scientific Communications Officers are working tirelessly to increase the number of guides and to update the current ones.

Another common challenge is that most families will never have met another child with the same condition. A big part of Unique’s work is connecting families with one another either directly, via our private Facebook group, or through webinars and events.

We also have an email and telephone helpline where people can get more personal support, have their questions answered or just have someone who understands provide a listening ear.

What happens when you connect families through your organisation?

By connecting families with others, we hope to reduce the isolation and loneliness that can accompany the diagnosis of a rare condition. Caring for a child with additional needs can be challenging and exhausting. In a recent survey, we found that 70 per cent of families were anxious, 60 per cent frustrated, 60 per cent stressed and 51 per cent isolated – but we know that 50 per cent also reported being determined!

We hear families talk about fighting to get appropriate support for their child or battling to access therapies. Groups like Unique are there to try to provide support, information and connections with others, but we also feel it’s crucial that the voice of our community – their challenges and the day-to day-lived experience – is represented to healthcare providers, policy makers and those designing service delivery. We advocate on behalf of families by giving talks, responding to government consultations and by sitting on myriad advisory boards and committees.

You’ve got a huge library of free resources that include information, storybooks, and advice from families. When it comes to caregiver well-being, what are some of the most useful tips your community has shared?

As we have already talked about, parenting a child with a rare chromosome or gene disorder can be exhausting and challenging – and we know that parents and carers are doing a wonderful job of looking after their children. However, it can be easy to neglect their own needs and wellbeing. Taking time for yourself, asking for help from friends, family and professionals – and finding others that are on a similar path to you can be amazingly helpful.

We know that joining support groups is not for everyone which is why we try to make as many of our resources as possible freely available to everyone and not only members. We would love to see psychological and therapeutic counselling available to all, but we know that it can be very hard to access. Here in the UK, organisations such as RareMinds have been established to provide tailored support to the rare community.

What advice do you have for families who are new to the experience of raising a child with a rare genetic condition?

Be kind to yourself! For some families, receiving a diagnosis has come after a long wait where families have known that their child has medical concerns or has not been developing or learning as they expected. Diagnosis can therefore come as a relief – an answer to the questions they have been asking. However, diagnosis may also come during pregnancy or at birth and can be unexpected and overwhelming.

Whatever your feelings are, they are all normal and there will be others who are feeling the same. Find your own path, connect and learn from other parents and know that you are not alone – and that you will become the expert on your child.

Visit the Unique website to connect with their community and access free resources.