02/10/2026
When our diagnostic journey began with Lola, and then Alfie, the worlds of genetics and healthcare felt so overwhelming. Like so many families facing an ultra-rare condition, we felt completely alone. No family should have to walk this path in the dark.
So, we’ve created a free, step-by-step guide to help families navigate the system after their child receives a rare diagnosis. But the hard part is reaching the families who need it most. Many newly diagnosed parents aren’t connected to online support yet, so word of mouth really matters. All we ask is that you share it with just one person. A friend, colleague, GP or teacher - that single connection could be the lifeline a family has been waiting for. Huge thanks to my inspiration Mel Dixon at Cure DHDDS, Sarah Wynn at Unique - Rare Chromosome & Gene Disorder Support Group and Nicky Scott at NHS England for helping bring this to life 💜 https://southeastgenomics.nhs.uk/new-a-parents-guide-to-rare-disease/ Adam Clatworthy
