Entries by @framework

Increasing our understanding of Ataxia Telangiectasia

Research Project Information Principal Researchers: Professor Claudio Pignata Institute: University of Naples Federico II, Italy Grant Awarded: £30,000 – In partnership with Sparks and the A-T Society Project Completion Date: January 2015 Project Overview Ataxia Telangiectasia (A-T) is caused by a fault in a gene called ATM (Ataxia Telangiectasia Mutated), which encodes the ATM protein. This protein’s involvement in the regulation of […]

Jenni’s Story

Jenni’s Story- Update April 2016 Very sadly, our darling daughter Jenni passed away on 7th January 2016. Like so many other children with A-T, she was diagnosed with cancer (Non-Hodgkinson’s Lymphoma of the Liver), in August 2015. She was fiercely determined to live, so I spent many weeks over the next 5 months in Alder […]

Lilly’s Story

Lilly was born by planned C section in May of 2009 and was a healthy normal baby. There were no complications during birth. From birth to two years old everything seemed perfectly normal, we had no reason to suspect hard times were upon the horizon. Lilly took her first steps at 10 and a half […]

Tilla and Ines’ Story

Tilla (aged 7) is a funny, caring and beautiful Danish girl, with many friends who lives in a refurbished, old factory building in Copenhagen, Denmark with her little sister, mom and dad. She collects scraps, dries flowers and loves to dress up and play with her many girl friends. Tilla was almost 6 when we […]