Classmates march for Chloe: Marbella schoolgirl with rare disease is only known case in Spain
Friday, September 13, 2019 @ 9:03 PM
PUPILS at a Costa del Sol school are taking part in a sponsored hike in support of their classmate Chloe, who suffers an extremely rare neurodegenerative disease – and is thought to be the only case in Spain.
The 11-year-old, who attends the Marbella Montessori School, is one of just 12 known patients in the world with a condition caused by a mutation of the gene VPS13D – an illness so recently discovered that it does not even have a name yet.
Chloe (pictured) suffers severe muscular pain, especially in her back, hips and legs, and daily cramps, as well as chronic fatigue and having difficulty walking, speaking and swallowing – the latter of which has put her life in danger numerous times.
She has often gone through 'night terrors', although these are currently less frequent, and has attention deficit disorder (ADD) and a visual-perceptive disorder which makes learning and retaining information difficult for her.
Investigation shows that the effects of the VPS13D gene mutation are such that 'the body does not produce enough energy to feed the nervous and muscular system', affecting their 'normal development' and leading to the muscles gradually atrophying irreversibly, according to Dr Matilla and his team at the Germán Trias i Pujol Research Institute (IGTP) in Barcelona.
Read more at thinkSPAIN.com