Patient Worthy recently attended ALD Life’s Community Weekend 2018, which brought together people and families with Adrenoleukodystrophy (ALD) and Adrenomyeloneuropathy (AMN), and scientists, researchers, and doctors. One of the speakers present was Dr Alasdair Parker, a consultant paediatric neurologist at Addenbrooke’s hospital in England, and an associate lecturer at the University of Cambridge. His talk discussed the best way to manage the treatment of cerebral ALD when it presents in childhood.
ALD (adrenoleukodystrophy) is a rare genetic condition that affects approximately 1 in every 18,000 births. Those affected have a variation in the ABCD1 gene that prevents them from breaking down very long chain fatty acids, which then collect and destroy the myelin sheath protecting nerves in the body and brain. This can cause neurological and physical symptoms, including sight and hearing difficulties, seizures, loss of muscle control, and difficulty concentrating, among others. The effects of the disease vary; generally, childhood-onset ALD is more severe than adult-onset, and only affects male children.
Boys with cerebral ALD usually present to their local general practitioner (GP) who refers them to a paediatrician. A paediatric neurologist, following further investigation, would normally make a diagnosis. Following this, many more doctors are likely to become involved, including a neurologist, endocrinologist, in addition to the GP and paediatrician specialising in children with physical disabilities. The number of people involved in providing care can become confusing if doctors are unsure who else is treating the child, and what their role should be. It is important to create an organised multidisciplinary team (MDT) that can effectively work together to provide healthcare for the child.
The core of this team, which Dr Parker calls the ‘building blocks’, should include the family and their GP. Community-based paediatricians and GP’s can often be overlooked when treating children with ALD because of the rare nature of the disease means they will have little experience with it. Dr Parker says this can make them reluctant to treat symptoms that they are actually well equipped to treat. In his presentation, Dr Parker outlined several common medical problems that children with ALD often face, but which are not unique to ALD. Community paediatricians and the MDT routinely come across these symptoms in the context of other diseases and should be able to help boys with them who also have ALD. These include vision failure, distress, confusion, sleeplessness, movement disorders and dystonia.
Sleeping problems, for example, are common for boys with ALD and can significantly affect the child, and their family and/or carers. A lack of sleep can also exacerbate existing issues, such as distress. A local MDT is very likely to have treated sleeping problems before, although perhaps not in patients with ALD. The GP can follow standard procedure and refer the child to a community paediatrician for a sleep assessment and therapy, so for this symptom, a doctor with specialist expertise in ALD is unnecessary.