In this episode of Rare Together, we’re joined by two people who are caring for loved ones with rare conditions so that we can learn more about the impact a rare disease diagnosis has on those around us. We have Candace from Fairview in Texas, US, whose 11yearold daughter has recently been diagnosed with having the Cask gene mutation, and Anna Mae from Henley on Thames in the UK, whose 4yearold daughter is one of only 20 people globally to have a CMT 2Z diagnosis.

Join us in this really insightful chat as we hear how two parents in different countries face so many similar challenges; from the diagnosis odyssey to balancing their other children’s childhood alongside watching them become a sibling carer, to the lifeline that is support groups, be that online or in the form of friends and family. We’ll hear more about how Anna Mae and her family are championing for increased awareness of her daughter's extremely rare condition, and we’ll also learn that about the epic amounts of joy in the everyday that both Mums experience as their children grow up.

Our host today as always is the wonderful Andrew Grant. Andrew is an experienced medical research consultant with LDA Research, an international medical market research organisation working in the pharmaceutical industry and medical device sector.

If you would like to share your story and help raise awareness of a rare condition you’re affected by, please apply to be part of the podcast here https://shareeu1.hsforms.com/1C75FoI.... Alternatively, join the conversation online by becoming a member of our private Facebook group   / rarediseasenetwork  , Rare Disease Network, where we’ve created a community of people from across the globe affected by rare diseases.

Podcast introduction 00:00
Introducing Candace and the Cask gene mutation 01:46
Introducing Anna Mae and CMT 2Z 03:57
The diagnosis odyssey 05:11
Impacts on family life 15:27
Support groups 26:14
The silver linings experiencing the joy in the small things 31:15
Something the world should know about living with rare disease 38:01

Audio: Spirit Blossom by Roman Belov