Tag Archives: Rare Genetic Conditions

Cerebra and Cardiff University collaborate to advance support available to families

Hello, I’m Lowri and I’m really happy to be joining Cerebra to work on an exciting and new Welsh Government funded project, as part of a Knowledge Transfer Partnership between us and Cardiff University. Before joining the team, I worked for the National Centre for Mental Health (NCMH). The NCMH is a team based at Cardiff University, and they research the causes of mental health conditions in adults and children. Speaking with parents of children taking part in the study, it was clear that families often feel the level of support is lacking after they receive a diagnosis. This project aims to address this important issue.

We will be working with the Cardiff University Division of Psychological Medicine and Clinical Neurosciences in order to improve the helpfulness of information and the services which families and children living with rare genetic disorders struggle to access. We will be focusing on improving mental health related information available to families.

Rare genetic disorders are caused by changes in a person’s DNA (their chromosomes). These changes vary in size. That means they can either affect a very small part of someone’s DNA, or the changes can be bigger and affect a larger area. Some rare changes to our DNA can lead to serious impacts on our physical health, brain development and affect our mental health too.

These disorders are rare because individually, they are not seen very frequently in the general population. However, if we looked at the whole population altogether, 1 in 17 people in the UK will be affected by at least one of these conditions, that’s 3.5 million people! One of the most common disorders is called 22q11 Deletion Syndrome (also known as DiGeorge Syndrome), with 1 in 2000 new born children being diagnosed. Another, much rarer syndrome is called Kleefstra syndrome, and occurs in less than 300 in the UK.  Cardiff University are currently researching these conditions in order to answer the question often asked by parents: “What does this diagnosis mean for my child, and where can I get help and advice?

Research has shown that people diagnosed with these rare genetic disorders often experience difficulties with their mental health, yet families have trouble finding helpful information and struggle to access mental health and other services for their child. We believe it’s important that everyone can access useful, high quality information about mental health conditions, based on the very best evidence from research.

We aim to work with medical services, other charities, as well as families with lived experiences to get a well-rounded idea of what services currently offer that is really helpful, what is unhelpful, and what people think could be improved. We will also ask what they think about the availability and quality of information about developmental and mental health conditions in children and young people. We hope that doing this will lead to important changes in services in order to equip people with key information and empower families and children to make informed choices that are best for them.

Myself and the rest of the team involved feel very passionate and committed to this project, and hope that it will make positive changes for families in the future.

Young Carer Makes Heartwarming Video Tribute to Brother

Sixteen year-old Eve Hamilton is a courageous young woman who has used her experience as a young carer to her brother Cole to inspire her class mates.

Cole, who is now eleven, was born with a unique gene deletion disorder which means that he has learning difficulties, hypertonia and severe autism. He is unable to talk or understand simple instructions. He finds it difficult to maintain friendships but his sister remains his companion and constant friend through thick and thin.

Eve says of her brother: “I am forever grateful for the life I live and I would not change my brother for the world.”

As well as doing her best to enrich Cole’s life, Eve is a keen advocator for people who are “different”, taking every opportunity she can to educate her peers about Cole’s condition.

The Hamilton family

The Hamilton family

Eve’s mum Kate told us: “Eve, who is in her last year at school, has been delivering a speech to each year group in assembly about her brother and what it’s like to have a member of your family with a disability. She talks about being a young carer and not to judge people by their appearance or how they act and to be more understanding.

It’s a big deal for a teenager to open up her private life to an entire school but she wanted to do it, if it meant she could help other carers to gain strength from knowing they are not alone and to raise awareness of children with disabilities.

The feedback has been astounding and the headmaster is so impressed he wants her to talk to other older groups outside of school.

Lots of children now speak to her at school about their problems and are now following her on social media. Even some of the tough lads in her class were reduced to tears! We simply couldn’t be prouder!”

Eve is incredibly humble, not wanting any recognition for the effort she is putting in to educate and inform her classmates. She simply wants to let people know that it is ok to be different and if she can stop even one person from being bullied, Eve is happy.

To help put across her message and to let everyone know how proud she is of Cole every day, Eve put together a heart-warming video tribute to her brother which can be viewed below.

Cerebra was able to help Cole with a grant for speech and language therapy.

Knowsley Family Forum – Rare Genetic Conditions

Little girl with Angelman's SyndromeWe recently held our first Cerebra Family Forum in Knowsley in the north west. We had three informative speakers for this event, providing information on rare genetic conditions and current research projects.

Unique is a charity that supports families of children with rare genetic conditions. Dr Beverly, Searle, their CEO explained how rare chromosome disorders occur and gave an insight and update on current research projects. Beverly also provided information on their and services and publications. Her presentation can be downloaded below.

Elizabeth Halstead, Lead Research Officer for Cerebra, provided an overview of Cerebra’s Research projects and the launch of a new 1,000 families study for parents and carers of children with learning disabilities. This new study aims to provide the largest UK database for information which is essential for future research in this area. Elizabeth’s presentation can be downloaded below.

Dr Caroline Richards, Research Fellow at Cerebra’s Centre for Neurodevelopmental Disorders at Birmingham University, provided an overview of their work, which includes research with families of children with rare genetic conditions. Caroline’s presentation focused on research on sleep and challenging behaviour often prevalent in children with rare genetic conditions.

Fifty two people attended the event and the feedback was fantastic with lots of positive comments about the quality of the presentations and information available. Lots of parents and carers commented they were unaware just how much research is ongoing and many felt it was great to have an event dedicated to rare genetic conditions.

Download Unique Presentation pdf

Download 1000 Families Study Presentation pdf

Visit our research pages to find out more about the exciting research funded by Cerebra at universities across the UK and in Barcelona.