Gene People: Supporting Families Through Rare Genetic Conditions

Samantha Barber, CEO of Gene People, and Emily Clark, a registered genetic counsellor, discuss the work of their national charity supporting people living with genetic and rare conditions. 5 Key Takeaways: 1\. Over 3.5 million people in the UK live with a rare condition, 80% of which are genetic, spanning the entire lifespan from babies to older adults. 2\. Gene People's helpline offers flexible support at all stages, from pre-diagnosis through to family planning, with some conversations lasting months or even years. 3\. The charity supports people with ultra-rare conditions where no condition-specific group exists, as well as those with slightly less rare diagnoses who need additional guidance. 4\. Their partnership network connects rare disease organisations, from Facebook peer support groups to registered charities, offering free membership, symposiums, and discounts on essential services. 5\. Many rare condition charities are family-run, born from families who don't want others to face the same struggles, and Gene People helps them navigate compliance, governance, and fundraising. Samantha Barber is CEO of Gene People, bringing nearly 30 years of voluntary sector experience. Emily Clark is a registered genetic counsellor who runs the charity's genetic conditions helpline. If you or someone you know is affected by a genetic condition, visit genepeople.org.uk or call their helpline for support. 1\. \[\[00:05:52.980]] Emily explains that some conditions are so rare there might only be a handful of people diagnosed with that condition in the world, so they may not have a condition-specific support group to turn to.    2\. \[\[00:06:39.679]] Emily points out that although the condition may be different, many questions families have are similar across conditions, allowing her to work with families on inheritance, family planning, and genetic testing regardless of diagnosis.    3\. \[\[00:08:04.010]] Emily describes the diagnostic odyssey, saying it can take a really long time to get a diagnosis and to get the right diagnosis, with some families experiencing symptoms that remain undiagnosed over quite a long period of time.   4\. \[\[00:10:34.640]] Emily explains that a few people maintain ongoing contact intermittently over a much more extended period of time, like a couple of years, such as those in the 100,000 Genomes Project.    5\. \[\[00:14:08.000]] Sam says that not being focused on one condition gives us a range of perspectives and experiences that we hear about, which helps inform the other parts of our work.   6\. \[\[00:17:54.340]] Sam explains that whether you are a 10,000 pound charity or a 10 million pound charity, the same level of compliance and governance are needed, but it just gets harder to fund for smaller organisations. 7\. \[\[00:20:30.660]] Sam recounts families saying, 'I couldn't let anyone else go through what we went through,' explaining the altruism that drives family-run rare condition organisations. 8\. \[\[00:22:49.780]] Emily says we know it is isolating for so many families out there with rare conditions and it's hard to pick up the phone or send off that email sometimes initially because you don't know really where it's going.   My Health Focus is not a medical service. The information provided is for general informational purposes only and does not constitute medical advice, diagnosis, or treatment. JOIN THE MY HEALTH FOCUS COMMUNITY AND SIGN UP TO OUR NEWSLETTER * * * Hosted on Acast. See acast.com/privacy for more information.