Welcome to Episode 5 of Rare Together. In this week’s episode, we are joined by 15-year-old Joyce and her mother, Jane, from New Jersey. Joyce was born with a rare genetic condition called Shwachman-Diamond Syndrome, which was diagnosed when she was aged 2.
Shwachman Diamond Syndrome affects her digestive system, blood/bone marrow, skeletal systems, and immune condition. There is currently no known cure, and the average life expectancy for Shwachman-Diamond Syndrome is around 35, but thankfully, there are documented cases of individuals surpassing this.
Join us in this insightful conversation as we hear how Joyce manages her condition at school, living life to the fullest with her condition, and Jane’s perspective as a rare disease parent, among many other topics.
Andrew Grant returns as host and facilitates this incredible conversation; Andrew is a highly experienced medical research consultant with LDA Research, an international medical market research organisation working in the pharmaceutical industry and medical device sectors.
We’ve also created a growing and supportive community of people from across the globe affected by rare diseases. If you or someone you care for is affected by a rare disease diagnosis, you can join the conversation online by joining our private Facebook group, the Rare Disease Network (https://www.facebook.com/groups/rarediseasenetwork).