Genetic disorders: empowering patients and families through information

'I've got the diagnosis, now what?' is one of the first questions families ask when they contact us at Unique, the UK-based organisation for rare chromosome and genomic disorders.

The genomics revolution means many more families now receive a genomic explanation for their child's health difficulties. The disorder will often have no name, and families may simply be given a piece of paper with a series of letters and numbers.

This is where Unique comes in: we understand the reality of living with a rare chromosome or single gene disorder, and that what families really want is information and to speak to someone else who understands. They join us to find answers: we provide support, information and networking to nearly 16,000 families in over 100 countries, and our staff members and trustees have personal experience of caring for someone with a rare chromosome disorder or are living with such a diagnosis themselves.

Receiving a genetic diagnosis is often a great shock and is mixed with many complex emotions including confusion, guilt and uncertainty. Previous research completed by Unique (paper in preparation) has shown that families want an explanation for their child's issues. They want to know how to help their children and – perhaps most importantly – they want to know what the future holds. Having a rare diagnosis can be isolating; it’s difficult to explain to friends and family what a chromosome disorder is, the issues it can cause and why. Because these disorders are so rare, and often unique, even doctors may struggle to explain what having one means.

Why is information so important? Put simply, information gives us hope. After all, knowledge is power, right?

The increased use of DNA sequencing technology in clinical practice, together with the advances made by the Deciphering Development Delay (DDD) study and 100,000 Genomes project, has resulted in an exponential increase in the number of families being provided with a genomic diagnosis. The knowledge gained from such genomic analyses is invaluable for research; however, for many families directly affected by newly identified genomic anomalies, there is limited 'family friendly' information available.

And having information from Unique about their child's rare disorder can make the world of difference to families. While waiting for an appointment to see a specialist, one member told us: 'You have been more help than you know; you've given me a direction which is something we've not had for five months.'

In 1996, Unique launched a registry/database that now has information from nearly 16,000 member families. It collects genotypic and phenotypic information about rare chromosome disorders over the lifetime of individuals living with these disorders. It is this information that forms the basis of our 200-plus family-friendly, medically verified information guides, which we have been writing since 2003. These also contain real-life stories from other families living with the disorder.

As the outcome of many disorders is largely influenced by the availability of social support, health care and services, information is vital in accessing these. It is likely that local health care professionals including GPs, social workers or even hospital specialists will come across few, if any, patients with a rare chromosome disorder. Using our information guides, many families are able to inform health professionals of any conditions that need to be investigated and monitored, such as underlying heart conditions or epilepsy that may be seen in other people with a similar diagnosis.

It may even lead to other family members receiving a genomic diagnosis, as one parent told us: 'The information was spot on and helped lead to my other boys being diagnosed with the same duplication as I was able to present relevant information to health care professionals.'

Another common challenge that many of our families face are issues with behaviour – their children are often labelled as naughty and carers may be wrongly labelled as bad parents. Our information guides provide evidence of the challenges our families face, and aim to empower parents to advocate for their children and seek support.

We believe having information is a fundamental right and is crucial in helping families accept their diagnosis and access services and support. As Melanie, a new member of Unique, says of her experience with her son: 'Ellis is a three-and-a-half year old charismatic, sociable little boy who is full of love, joy and so much energy; he also has a sizeable duplication at 17p13.1…Being able to easily access information has helped me to better understand and make sense of Ellis' genetic makeup which has been an important factor in my process of acceptance.'

Unique is a support group helping families living with a rare chromosome or single gene disorder. The 4th international Rare Chromosome Disorder Awareness Week 2017 will run from 11-17th June 2017 and aims to raise awareness of rare chromosome and single gene disorders.