‘Leukodystrophy’ and the related term ‘leukoencephalopathy’ refer to a group of more than thirty-four conditions that affect the myelin, or white matter, of the brain and spinal cord.
Leukodystrophies are genetic, neurological, degenerative disorders. This means that a person’s condition is caused by a faulty gene that affects the development of myelin, leading to deterioration in many of the body’s neurological functions. The pattern of symptoms varies from one type of leukodystrophy to another, and there may even be some variation between different individuals with the same condition, however all are described as progressive. This means that although there may be periods of stability, the condition does not go into ‘remission’ as may be seen in some other neurological conditions, and over time the condition inevitably worsens.
While some leukodystrophies present in adolescence or adulthood, most occur in early childhood. Developments in genetic therapies provide hope for the future, but currently there is no cure. For some people whose condition is diagnosed prior to the appearance of symptoms (such as when screening occurs following the diagnosis of leukodystrophy in another family member) bone marrow transplant may be an option. For some, bone marrow treatment is literally life-changing, however this procedure is also extremely risky and is not suitable for all individuals or conditions. Treatment for leukodystrophy and leukoencephalopathy is aimed at providing comfort and management of symptoms. For most leukodystrophies, diagnosis in childhood is associated with a life expectancy of only a few years.
As with any genetic condition, a diagnosis of leukodystrophy affects the extended family as well as the individual. This is partly because people affected by leukodystrophy have complex support needs, and their family, friends and other carers also need support in order to care for the affected person while meeting their own needs for health and wellbeing.
The diagnosis of one person in a family also raises the question of other family members’ potential to be affected either as ‘asymptomatic’ (in other words, being affected by the genetic condition but not yet experiencing symptoms) or as a ‘carrier’. A person who carries the gene may not have any signs of being affected or may experience a relatively mild form of the condition, but may be able to pass the condition on to their own children or later descendents. For these reasons, it is important that relatives of someone diagnosed with a leukodystrophy or leukoencephalopathy are offered screening and genetic counselling, if appropriate.
A diagnosis of leukodystrophy is naturally extremely distressing for individuals and family members, but it is important to remember that people affected by leukodystrophy, and their families, also have the same needs as anyone else for friendship and fun, and there is much to enjoy despite the difficulties. It is easy sometimes to feel overwhelmed by the sadness and fear of such a diagnosis, but children with leukodystrophy can often teach us about enjoying the very simple things in life, such as a cuddle or a sharing a giggle. There is a lot that can be done to make life more positive for the person with leukodystrophy and their family, and having a network of support through family and friends, as well as professional supports, all helps to get through the hard times.
Further Information and Support
Australian Leukodystrophy Support Group