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In line with our Mission Statement above, we aim to act as an international group, supporting, informing and networking with anyone affected by a rare chromosome disorder or an autosomal dominant single gene disorder and with any interested professionals.
We aim to provide specialist information relating to many hundreds of different rare chromosome disorders and autosomal single gene disorders, to inform parents, carers and the professionals working with them.
We aim to facilitate a network of families across the world living with rare chromosome disorders or autosomal dominant single gene disorders , bringing them together both in person and virtually for invaluable mutual support. By networking with professionals and the wider public we also aim to increase awareness and understanding of what it’s like to live with these disorders.
We aim to be there for families and individuals, offering a listening ear, an understanding, sympathetic presence to support them when they need us most, often at or just after receiving a diagnosis of a rare chromosome disorder or an autosomal dominant single gene disorder.
Scroll down to meet the Unique team and if you would like to read more about Unique’s background and history please click here.
Hi, I'm Sarah. I'm really pleased to have recently taken on the role of Interim CEO of Unique, following Beverly's well-earned retirement after many years of dedicated service.
Read full bioI'm Unique's COO and work on fundraising, administration and infrastructure, basically anything to support the frontline staff as they deliver services to families and professionals...
Read full bioHi, I am Anita and I am delighted to join the Unique team. Professionally I have worked as a Midwife for the last 26 years....
Read full bioI was very happy to have been given the opportunity to join Unique in 2015 as one of the Information Officers. I am responsible for researching and writing or updating Unique’s information guides...
Read full bioHello, I’m Charlotte and I’m the newest member of the team, having joined in February 2024 as an Information Officer (maternity cover).
Read full bioI first discovered Unique four years ago when my sister’s gorgeous youngest daughter Tilly was diagnosed with Tetrasomy 9p. While very little information was made available to her upon diagnosis, fortunately a friend of mine who works as a paediatrician recommended getting in touch with Unique...
Read full bioI was thrilled to join the Unique team as a part-time Information Officer in August 2019. My role is to answer queries from families and professionals, provide information about specific rare chromosome and single gene disorders....
Read full bioHello, I am Gemma. I work as an Administration Officer for Unique. My main job is to keep the database updated and I am currently engaged in a rolling programme sending out database entry forms and consent forms to our member families.
Read full bioHi there…. I’m Unique’s Finance Officer, having joined in April 2017. My background is in Compensation and Benefits within Human Resources so I have always enjoyed working with numbers...
Read full bioI'm Sophie and I have 21 year old son Max with dup 9p(23-14) and del 9p(23.1-23.3) and a younger daughter. Unique changed our lives when we were told shortly after his birth of his diagnosis but also that they couldn’t tell us any more about how he would develop...
Read full bioHi , I’m Helen. My younger son Patrick had a profound speech and communication delay which lead him be tested at the age of 4 years in 2009. This found that he has a deletion 18p11.32p11.21......
Read full bioFollowing completion of my English degree at Durham University, I took a teachers’ training diploma. During the course of that training I had many weeks of student teaching experience some of which was spent in a ‘special needs’ school (as it was then called)...
Read full bioI am Edna Knight, Unique’s Life President and a Trustee. I started the group with four families back in 1984 as the Trisomy 9 Support Group which subsequently became Unique.....
Read full bioHello I am Shwetha. I am a Consultant Clinical Geneticist based at Guys Hospital in London. I graduated from Oxford Medical school in 2006 and completed my Specialist Training in Clinical Genetics in 2017. I am passionate about ensuring that advances in genetic technology make a difference to as many people as possible...
Read full bioI initially became involved with Unique shortly after my second daughter, India, was diagnosed with an unbalanced translocation (duplication 18q21.1 to qter, deletion 18p11.32). At the time she was three weeks old and had been admitted to hospital after struggling to breathe...
Read full bioI am delighted to become involved with Unique. Our grand daughter Maya has a 10Q26.1 deletion, and after her diagnosis at one month old, I contacted the charity. Beverly and her team gave our family such comfort and support and I decided to run the London Marathon for them...
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