Understanding Rare
Chromosome and Gene Disorders
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A Unique Experience

At the end of June, a trainee genetic counsellor, Nezzy Evans, joined Unique for 2 weeks to learn more about what our charity does and how we fit in the journey of families being diagnosed with a rare chromosome disorder. She got to meet all the UK based members of the team and see behind the scenes of what we do. Nezzy is a 2nd year trainee based in the Liverpool Centre for Genomic Medicine. She has a degree in molecular genetics and is currently working towards her Masters in genetic counselling. She is due to qualify as a registered genetic counsellor in 2020.

Since the beginning of my training I have heard about Unique. In NHS clinical genetics departments, where genetic counsellors and consultant geneticists work, the information guides that Unique have produced are regularly used. When we meet with individuals and families that we suspect may have a rare chromosome disorder, these information guides are very useful. We may talk through them in clinic before giving them to the family to take away and refer to in the future.

It wasn’t until I saw Arti, one of the Information Officers at Unique, speak at the Festival of Genomics in January, that I learnt how small the team was. I was amazed that a charity of only 8 people was able to produce and keep up to date upwards of 250 different guides. I had assumed that there must have been a large team, spread across multiple offices in the UK and further afield. I knew I had to find out more, and I found that what Unique lack in numbers, is more than compensated for in the passion, experience, resilience and care that is poured in this great charity by a few remarkable people.

Shortly after seeing Arti, I contacted Unique’s CEO, Beverly, to try and arrange a work-placed elective, a short placement to shadow the team. We spoke on the phone and over email, and agreed a 2 week window for me to join them. I wanted to learn more about the services that Unique provides families affected with rare chromosome disorders, as well as how professionals like me and my colleagues support both Unique and their members.

I already knew there was an ‘army of professional volunteers’ that helped in the reviewing of the information guides, but I was not very clear on what else Unique does and who else is involved. I wanted to understand more about the role of Unique in helping families adjust to a new diagnosis, what support they offer, and how professionals can contribute more. This was such an important thing to learn about, as I develop my own clinical skills, so I can provide the best information and support I can to the families I see, including knowing where they can go for ongoing support following a diagnosis.

I was warmly received on my first morning with a smile and a hug from Beverly, who then introduced me to the team. They shared with me all the ways that Unique support families, including providing worldwide members with personalised information on every individual genetic diagnosis and facilitating family connections across the UK. I learnt about the expansion into supporting families with some autosomal dominant single gene disorders. We discussed the hopes for continued expansion, to have more opportunities to engage and support members beyond their diagnosis, and the limitations that can restrict ambitions, such as time, resources and funding.

I also learnt about the database they have been curating over the past 20+ years, full of invaluable information about the way individual people have been affected by their rare genetic condition over the years. Gemma, Unique’s Administrative Officer has the essential job of helping to update this with newly received information from existing members. I was made aware for the first time about all the secret, members-only Facebook groups that Unique have created, so members have easily accessible and around-the-clock support networks all over the world. Add to that; the helpline, all the conferences, events like family days, and the regular newsletter and magazine, Unique is a small but mighty organisation, a powerhouse of activity. They do so much more than I ever realised or saw from the outside.

Beverly also shared with me the wider picture of Unique; the role of the Trustees and the importance of charity status and governance. Essential to the success of Unique is the broad network of supporters, local contacts, contributors and collaborations with other genetic services like Genetic Alliance UK and SWAN. Both Beverly and Sarah, one of Unique’s Information Officers, are on a variety of advisory boards to ensure the voices of families affected with rare diseases are present in national genetic research projects and governmental policy development, amongst other sectors.

I went to meet Claire, Information Officer, who showed me the width and breadth of the process it takes to produce a new information guide for a condition, including collecting personal stories from Unique members, literature searching to collect relevant research and arranging guide reviews from consultant geneticists. We discussed the way we both use our past experiences in teaching to inform the way we explain genetic conditions. I was grateful for the opportunity to support her preparation for an upcoming event for individuals with KBG Syndrome where she will be facilitating a discussion with families.

Marion, Unique’s Family Support Officer, is someone most members are likely to have had contact with, having been part of Unique for over 20 years. Her current role covers signposting families to relevant local support and granting access to the Facebook groups, as part of the welcome pack she distributes to new members. It is clear that Marion is also passionate about the other side of her role, the production of Unique’s Practical Guides. These guides cover a whole range of topics, including feeding, transition to adult services and carers wellbeing. I found my conversations with Marion to be eye-opening with regards to how the time of diagnosis and transition can be the absolute worst, and could make you feel like you are lost in a ‘wilderness’. The need for support and contact with people who understand what you are going through is clearly so important, particularly in these moments.

I spent time with Louise, Finance Officer and Craig, COO, to learn about the fundraising side of Unique, which as a charity has never received any governmental or NHS funding. The work and generosity of donors, fundraisers and contributors are the lifeline for this service, which is one-of-a-kind in the world. As membership hit 20,000 families during my time with the team, it is clear the need for Unique is increasing, and resources are being stretched thin. Sustaining funding is so important to allow the charity to continue to meet the needs of all its members. There is more than enough work to justify the pending expansion of the team, and the decisions on spending are weighed very carefully to ensure all proceeds go to directly supporting the world-wide community Unique have built.

At the end of my 2 weeks with the team, I can say that this has been a remarkable learning opportunity and I have been so grateful for how much the team were willing to show me about how Unique works. The open honesty with which the Unique staff shared their own experiences with rare chromosome disorders with me, has perhaps been even more educational. It has helped me reflect on how huge the impact of a diagnosis can be on a family, and the increased difficulties that come with there being little information available.

It has been an absolute privilege to spend time with the Unique team, and I have gained invaluable insight into the amazing work this charity does. This experience has already made me a more conscientious practitioner and raised many questions about how I and my profession can improve the experience of families during genetic testing and the diagnosis of rare disease. I will continue to reflect on all I have learnt, and look for further opportunities to develop my understanding, so it can help inform my practice in genetic counselling as I continue in my career.

Lastly, in a call to arms to my fellow colleagues in the field of clinical genetics, let us follow and share Unique on social media, fundraise, join as professional members and help Unique expand their network through our contacts. I urge active engagement with Unique; through voluntary reviews of information guides, fundraising, and continuing to ensure our own practice includes signposting families to appropriate patient support groups. Let us continue to show Unique our ongoing appreciation for their resources and services, which we are able to access for free, and which we know are a beacon of support through some of the toughest of moments for the families we diagnose.