Meet Niamh, a spirited three-year-old from Galway city, and her mother Kasia, a researcher and senior lecturer in Physiology. Despite being diagnosed with a rare disease linked with a variant in the gene encoding for a complex called V-ATPase when she was just a few months old, Niamh is a vibrant, bubbly child who loves books, the playground, and her best friends from creche.
Kasia chose to participate in the I am Number 17 campaign to raise awareness about rare diseases and to dispel the misunderstandings and stigma surrounding them. She firmly believes in the importance of inclusion and the need for more research on rare diseases in Ireland.
Kasia uses her background in science to help understand Niamh's condition and contribute to the medical community's understanding of it. She has also presented Niamh's story at conferences to advocate for more genomic screening and early diagnosis.
Kasia describes Niamh's journey with her rare disease as one of the ‘toughest things’, but an experience that has also been rewarding. Her four words that capture the family’s approach to living with a rare disease are “Resilience” , “Optimism”, “Hope”, and “Determination”. This approach has helped them to take one day at a time and appreciate the good things in life.
Photography by Julien Behal
C-ANPROM/IE/RDG/0018
You are now leaving the I Am Number 17 website.
This link opens a website that is not operated by Takeda. We are not responsible for the content or availability of linked websites. Third party websites may require login or registration.
