Thanks to your support on Jeans for Genes Day, we’ve been able to fund a genetic disorders helpline with a dedicated Genetic Counsellor, Emily Clarke. In this series of blog posts, Emily will talk about some of the ways the helpline is making a difference to the lives of children and families affected by genetic disorders in the UK.
“As a member of the dedicated team at the national charity Genetic Disorders UK, my primary focus is our expanding helpline service. We receive many enquiries every week, by email and phone, from people across the UK with questions or concerns about a genetic condition affecting them, their child or another family member.
In a recent enquiry, Becky phoned the service as her daughter, age 7, had just been diagnosed with a very rare genetic condition. Becky was understandably feeling overwhelmed and confused. No-one else in the family had ever developed the condition and Becky and her husband John, could not understand how their daughter had inherited the disorder. We were able to talk through how the condition is passed on in families, discuss their concerns, including whether their younger daughter might also develop the condition, and direct them to their local specialist NHS genetic service for further genetic counselling.
Our helpline aims to provide clear and accurate information about medical genetics, genetic testing and genetic services. We also offer crucial support and understanding of the many varied emotional and social impacts a genetic diagnosis can have for a family. It is not unusual for parents to experience feelings of guilt, there can be conflict among family members or distress about what could happen in the future. Our experience working with families, the personal experiences of team members and our training and expertise, has given us an in-depth appreciation of the challenges, as well as the rewards, of life with a rare genetic condition. I find I am constantly amazed and impressed by the determination, courage and strength of the parents and individuals I have contact with through our helpline and I learn from every person who gets in touch.
We always take a non-judgemental approach when responding to enquiries, providing balanced information and supporting people to decide on the best course of action for themselves.
When Raj contacted the helpline, he was worried about whether his future children may inherit his condition and what options may be available when he decides to start a family. After talking everything through, Raj was able to clarify that, for him, knowing the likelihood of his children inheriting his condition would not alter his plans for having a family. Instead it would just help him and his partner to prepare better for the potential needs of their children.
In providing this service I have become aware of how many people have worries about a genetic condition and are struggling to find understandable information or support from someone who knows what they’re going through.
We receive enquiries about all aspects of genetics from how do I get genetic testing to how can I set-up a support group and what research studies might be suitable for my child? We also help people to consider whether a referral to NHS genetic services would be of benefit, assist them to prepare for their genetic appointment and provide support following a consultation.
If you have any queries or support needs about a genetic condition please contact us at the Genetic Disorders UK helpline. To contact the helpline please call 0800 987 8987 or use our website contact page.”