Uniquely Supported

Jack has Duchenne Muscular Dystrophy

photographed by Ceridwen Hughes for the Beauty of rare exhibition.

"I always wanted to be a scientist from the moment I remember wanting to be anything, I really loved maths and the sciences at school. I had that sort of young, over-optimism that I wanted to cure cancer, I loved the idea that science made these amazing breakthroughs."

Sarah Wynn always knew she wanted to be a scientist, and throughout her life, her decisions have been made with this at heart. Following a-levels she started her impressive academic journey academic jouney with a BSc in cellular and molecular pathology, a PhD in Philiosophy in Genetics, a MSc in Medical Genetics whilst living in Hong Kong and more recently she has completed a second master’s degree in genetic and genomic counselling. Her work as a researcher is both reflected and intertwined with her academic life, leading over the years to a move away from cellular biology and cancer, via chromosomes to developmental biology and genetics. "I moved into developmental biology, looking at the genes that are switched on early in development and how they impact the developing embryo (because) I think when you’re a geneticist, it almost doesn’t matter which gene you look at because you’re trying to find out the same thing; what does that gene do? How does it work? What’s the impact when it is switched off or doesn’t work properly?" Sarah’s work within the field of academic research was one she loved, was passionate about and committed to. She explained “I really loved working in the lab for many reasons, there’s some magic about it, knowing that you’re the only person in the world looking at that particular thing. When you find something out, you’re the first person to know that, and that’s really exciting!” After the birth of her second child, despite loving her job and the research she was doing she realised that she would struggle to work full time. “Being an academic is very demanding timewise, and it’s also very inflexible because your experiments don’t ever quite go according to a nice timetable. Your cells grow at a slightly odd rate so it would mean I’d have to go and feed my cells at the weekend and it was just really difficult familywise.” Sarah did not feel that she could be open within her workplace or with her colleagues about the realities of the juggling she had to do to manage her work, her family and her home life. So although her professional life was going from strength to strength, ultimately she felt she had no real choice but to look for a role that would offer her more flexibility. A decision made all too often by women at the height of their promising careers. In 2019, a study found that nearly 40% of women leave STEM (science, technology, engineering and maths) jobs after starting their families.* Women account for less than 30% of all researchers in the world, but often their loss to the world of research is the gain of the nonprofit sector, something which is especially evident in the rare disease community.

Unique provides information, support and networking to families affected by rare chromosome and gene disorders. They support people to understand what a diagnosis means, and connect them to others within their communities. Their mission is simple; to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder, copy number variant or single gene disorder associated with learning disability/developmental delay and to raise public awareness.

*1 Study finds more than 4 in 10 women leave STEM jobs after having their first child - Bizwomen (bizjournals.com)

"While I was on maternity leave the Unique magazine came through the letterbox, and in the magazine was a flyer for a job advert for Unique

Sarah recalls that they were looking for somebody with clinical experience, and her background was in the lab. It was also a fulltime job but she still applied, having decided that she would need to change her career to be able to have a better work-life balance, and was offered the job as a job share. This move also helped address the disconnect she had sometimes experienced as a researcher; "It’s really important that research happens, but you’re really far away from patients. So I really wanted to do something a bit more tangible, a bit more patient-focused, so the role with Unique was a really good opportunity to use my genetics background, but in a more tangible, direct way." In the early years of their marriage, Sarah and Marc were living and working in Hong Kong, both enjoying busy and successful careers. Unfortunately, when they tried to begin their family Sarah experienced the difficult loss of having three miscarriages. Losing 3 or more pregnancies in a row is known as ‘recurrent miscarriages’, and will generally prompt the start of several investigations, one of which is to test both partners’ chromosomes. Marc was found to have a balanced translocation between chromosomes 5 and 7, which can cause fertility issues. Simply put when the chromosomes separate to form egg or sperm cells a balanced translocation can lead to an ‘unbalanced translocation’ if they separate in a particular way, resulting in an increased risk of miscarriage/s. "At the time that we joined Unique (as members) we hadn’t had a successful pregnancy and we’d found out that Marc had this balanced translocation. As coincidence happens I’m a geneticist, so when we got the results it seemed completely crazy that I got them over the phone while I was in the lab. My obstetrician gave them to me and said ‘I’ve got no idea what this means, but they found this,’ and of course, I knew what it meant." Miscarriages are experienced in 1 of 8 known pregnancies, and yet they are often not talked about. There are perhaps many different reasons for this; from intensely personal, to social, religious and cultural. The silence around miscarriages can lead to feelings of isolation so Sarah has always chosen to speak openly about her experiences. Whilst talking will not change the difficulties of the loss being faced, it can help those dealing with them to feel seen, supported, and less alone. How an individual woman will deal with their miscarriage will be personal to them, and their experiences, but again in being open about our feelings we can help normalise the huge breadth of emotions that people might face. For Sarah having a reason for their miscarriages was helpful and gave her hope. "The diagnosis was actually good news in some ways, which feels like a strange thing to say. I was anxious about the fact that we’d had all these miscarriages, that maybe once you’d had three you were just going to keep on having them. Having an explanation for why it happened was helpful for us as a couple. I think it super helpful that actually, it was Marc rather than me because I would have felt guilty about it. Whereas actually, Marc was much more rational about it, he was very much able to say ‘I didn’t do anything to cause this, it’s not my fault, it’s just one of those things."

Image courtesy of Sarah Wynn

Image courtesy of Sarah Wynn

“I completely understood why they had happened, it was a biological thing, but for me, it was the total loss of hope I found really much harder to deal with.”

Feelings of shame, of responsibility, and of being at fault are a complicated part of the experience of miscarriage for many women. Even for Sarah, who from an early age had dreamt only of being a scientist, whose studies and work had all required the ability to be clinical, scientific and rational, those fears and feelings were there. Until Marc’s diagnosis, she had felt like perhaps it was her fault, "you feel completely responsible for not being able to hold on to this pregnancy, and maybe it’s not rational, because it’s not your fault, but it felt like a huge weight of responsibility." For Sarah and Marc having a reason for their fertility issues helped them to move forwards, to understand, to feel less alone and more hopeful .

Image courtesy of Unique Complicated feelings of isolation, loss, guilt or responsibility are often also experienced in the rare disease world and form a key consideration for Sarah and the team at Unique in the planning and provision of the support and services they offer to the community. Unique started as a parent-led support group in 1984 and was set up by Edna Knight MBE along with four other families as the Trisomy 9 Support Group. As with many parent-led organisations Edna sought to provide the support her family needed whilst dealing with their rare disease diagnosis. In 1993 the group was granted charity status and the Unique logo was adopted, its first funded role was filled by Beverly Searle who went on to lead the charity as Chief Executive Officer until her retirement in August 2021. Before joining Unique Beverly was a research biologist with an interest in biochemistry and genetics, but as with so many within the rare disease world when her daughter Jenny was born with a chromosome deletion Beverly’s life was changed forever. Sarah’s life too was changed by Marc’s diagnosis with a rare chromosome disorder. By 2007 Sarah had moved back to the UK, begun her family and joined Unique as an employee, looking back now she reflects that in those early years at Unique. "We all had a link to the rare disease world that had brought us there."

Over the years she has worked in different roles within Unique and had also had periods where having left Unique she returned to research and education within the field of genetics. When Beverly announced her aim to retire by August 2021 Sarah was just finishing her master’s degree in genetic and genomic counselling, which she had begun to enable her to be better equipped to help support the Unique families, and so she felt it the right time to apply for the CEO role. She is passionate about continuing and developing the core work that Unique do to support those affected by rare chromosome and gene disorders. Unique offers support and information in different ways, recognising that people will need to access both in their own way and at the time that works for them. A key part of their offer is the information they provide in the form of guides, which are written to be medically accurate, family-friendly and easy to understand information that gives a really accurate picture of what it’s like to have a child with that condition. "With the advances in research, and in testing more and more families are getting a diagnosis for their children but then they’re just left, dangling alone. They don’t know where to go for support, and they don’t know what it means. I think that next step is almost completely missing in the patient pathway." A diagnosis is important, but it’s really only the first step on a journey for a family. For Sarah what comes next is just as important, and she is committed to furthering the role that Unique can play in offering ongoing support, and becoming a trusted and accessible source of information in the diagnostic pathway that patients and families go through. "We quite often fill that gap where families have been given a diagnosis, but no real information. When they google they find us and get in touch. I think one of the things that have got better over the last few years is that clinicians do recognize the importance of giving out good quality information, and there is more acknowledgement that written information that families can take away is important. So often our guides are given out in clinics." Unique has worked hard to build these vital relationships with the medical establishment, to become that important link that can meet the psychosocial needs of families in a way clinical settings can’t. "Although we serve the families we realized that we need the clinicians because we need them to diagnose our families. We need them to look after our families, and we also need them to tell our families where they can go for support." Once Unique has become involved the level of support accessed will be decided by the families themselves, from simply downloading an information guide through to calling the helpline, joining a support group or peer support from other families with a shared diagnosis. Above all Unique want to make sure that at the point of diagnosis a family knows that they are not alone, that there is a community, no matter how small, how rare, or how unique, but there is a community out there. "Someone who understands, who can offer support and a picture of what it’s like to have a child with that condition. That they’re real children, and it’s not just this clinical diagnosis. To see that this is how is how other families have managed day to day."

A balanced or chromosomal translocation, also known as a reciprocal translocation, is a condition in which part of a chromosome (molecule of genetic material) has broken off and reattached in another location. In short, it means that sections of two chromosomes have swapped places. Translocations can be completely harmless or they can cause serious health problems, depending on the chromosomes involved. For example, if certain chromosomes are affected this can result in frequent miscarriages or other fertility issues.

To find out more about Unique visit www.rarechromo.org

1 in every 200 babies in the UK is born with a chromosome or gene disorder. “A caring voice in difficult times”

www.rarechromo.org

PLEASE CONTACT US VIA OUR HELPLINE T: +44 (0)1883 723356 E: info@rarechromo.org

Unique, The Stables, Station Road West, Oxted, Surrey RH8 9EE, UK

Registered Charity No: 1110661 Registered Company in England and Wales: 5460413

Each year many hundreds of babies are born with rare chromosome and gene disorders. These are lifelong conditions, present at birth though often not inherited, caused by parts of one or more of their chromosomes missing, added on or rearranged, as well as changes in single genes.

To learn more about the charity, please visit www.rarechromo.org Although rare, collectively the disorders are much more common, affecting as many as 1 in 100. Their individual rarity, however means that doctors and other professionals often have little knowledge about them, leaving parents and carers feeling distressed, isolated and confused. This is where Unique comes in, answering their many questions and giving them the help they need. Unique’s services include a ’Listening Ear’ telephone and email help service – the first point of contact for parents, doctors and other professionals. We have published a library of over 300 medically-verified information guides to specific conditions and run events such as family days, workshops and study weekends for parents and professionals to learn more about these conditions. Unique also runs a family matching service linking families living with similar conditions and/or symptoms for mutual support.

New technology means lots more chromosome and gene disorders are being discovered all the time. More families than ever are receiving diagnoses and demand for Unique’s services is increasing very rapidly. We now support over 11,000 UK families, part of a global network of almost 30,000 individuals with rare chromosome and gene disorders.