LEUKODYSTROPHY

By buying this book you are supporting the Tubb4a Foundation and the ELA España Association, two organisations working to find a cure for leukodystrophy.

What is leukodystrophy?

Leukodystrophies are genetic disorders that mainly affect the white matter of the central nervous system. They are neurodegenerative diseases, and in 90% of cases symptoms appear in childhood. They lead to premature death, and how fast they progress depends on the genes involved. Together they are estimated to affect 1 in every 7,000 people. More than 90 types of mutation have been identified so far, and new ones appear every year as genetic diagnosis and technology improve.

Like Carolina, around 300 children worldwide have been diagnosed with leukodystrophy linked to the TUBB4A gene. First symptoms appear at any point between birth and early adolescence. The disease is disabling, degenerative and ultimately fatal, over a period that varies with the specific mutation and the age of onset. Research is advancing significantly, but there is currently no cure for this form of leukodystrophy.

Tubb4a Foundation

The Tubb4a Leukodystrophy Foundation was created by Spanish families affected by this neurodegenerative disease. Nine cases are known in Spain, though more are thought to remain undiagnosed. The Foundation aims to find a cure for TUBB4A-related leukodystrophy, working towards a world free of neurodegenerative diseases affecting children. To that end it raises awareness and funds to support research into gene therapies. One of the most advanced research programmes is preparing a worldwide clinical trial to improve the quality of life of the children affected.

More information at www.fundaciontubb4a.org 

ELA España Association

ELA España grew out of meetings held in 2001 by families in the library of the Niño Jesús University Hospital in Madrid, where they sought support from others going through the same ordeal. Since then the association has worked to help those affected by this group of rare genetic neurological diseases. It brings efforts together to promote research and support patients and their families. ELA España has donated more than €500,000 to research, supported the development of clinical trials and raised awareness of leukodystrophy. 

More information at www.elaespaña.com