What is it?
Leukodystrophy is the primary name for a rare disease. A disease in which there are 50 + variants, some of which are so rare that they are unnamed. The disease itself is a neurological disorder that is both progressive and incurable. In most cases the gene mutation is passed down from parent(s) to child. An incomprehensible, helpless guilt that no parent should have to try and come to terms with!
The simple science!
This merciless disorder affects myelin which is better known as white matter. This white matter is found within the brain and spine and acts as a protective encasement for nerve cells and without said protection there is exposure to suffer damage to the nerves. A gene mutation such as this will eventually cause a progressive loss of neurological function in infants, children and occasionally adults.
What can be done to solve it?
Unfortunately, as you will have read, this disease is incurable. The only way to know is through symptomatic functionality. For us as a family we noticed delayed walking, limited postural control and lack of strength as our daughter approached the age of 2.
Some will read that the disease is treatable but this is only available of the patient is non-symptomatic. For those that are symptomatic there is medication, physical, occupational and speech therapy which are typically the first port of call. Postural supports feeding tubes come later so whilst helpful, it's a long way from 'treatment', arguably more management..
Advancements:
The definition of ‘leukodystrophy’ has changed over time, as a result of improved understanding of the disorders. The word “leukodystrophy” is an old word that was coined to describe a genetic disease of the white matter of the brain. The term comes from the Greek language – leuko “white”, dys “abnormal”, and trophy “thrive or grow”. Put together, this describes a process of deterioration of the white matter in the brain.
Before the gene abnormalities that cause leukodystrophies were identified, the term “leukodystrophy” referred to a genetic disease of the white matter of the brain usually following a degenerative course. For many years it was thought that leukodystrophies were primarily diseases of myelin or myelination.
In the past two decades there has been a revolution in the understanding of the causes of white matter diseases with the identification of the gene abnormalities that cause the diseases to develop. This has led to increased understanding of the many different ways in which the white matter of the brain may be affected and a recognition that these were not exclusively diseases of myelin. It was also recognised that not all leukodystrophies followed a degenerative course.
