Welcome to Episode 3 of Rare Together. In this week’s episode, Hannah from Mülheim An Der Ruh in Germany joins us. In 2022, Hannah was diagnosed with FLNA Deficiency, a rare genetic disease that affects her organs, muscles, joints and mobility.
FLNA deficiency refers to mutations in the FLNA gene, which is responsible for producing the protein filamin A. Filamin A plays a crucial role in maintaining the structure and function of cells, particularly in the development of connective tissues and the central nervous system.
Join us in this insightful conversation as we hear how Hannah manages her symptoms on a daily basis, what it’s like to have your mobility limited at such a young age, her experiences with misdiagnosis and having to re-explain her medical history to every healthcare professional she meets. We also delve into her passion for computers and learn more about how Hannah is not letting her diagnosis hold her back from undertaking an apprenticeship in computer science.
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).