New! A parent’s guide to rare disease

Written by parents, for parents, this new guide offers practical support, trusted resources and hope for families navigating a diagnosis of a rare genetic condition.

Freely available for all.

Two families shared their deeply personal experience of discovering that their children had a rare genetic condition. Adam and Mel, who together have authored this guide, talked about how they’ve used the diagnosis to create communities of hope both in the UK and worldwide.

Talking about the guide, Mel said,

“When Tom, and later Rosie, were diagnosed with DHDDS, we had no idea where to turn. The world of genetics, healthcare and rare disease felt overwhelming, complex and incredibly isolating.

That’s why we created this free, step-by-step guide- to help families navigate those first steps after a rare diagnosis.

Now we just need to make sure it reaches the families who need it.”

Talking after the launch, Adam said,

“When our diagnostic journey began with Lola, and then Alfie, the worlds of genetics and healthcare felt 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.

Please help us to share it.”