The Unspeakable Disease: A Tale of Two Siblings

Abstract

The deficiency of arylsulfatase A due to the mutations in the ARSA gene is the cause of a rare inherited lysosomal storage disease, resulting in the accumulation of sulfatides in the central nervous system (CNS) and peripheral nervous system (PNS). This, in turn, leads to progressive demyelination, neuro-inflammation, and neurodegeneration, and the accumulation in visceral organs. Affected young children gradually lose the ability to walk, stand, talk, and swallow; they lose their independence and show a steady physical and cognitive regression resulting, ultimately, in their premature death at a younger age. This condition not only devastates young patients, but it also deeply affects their families and carers, both psychologically and economically. In this interview, Simon Jones, Consultant in Paediatric Inherited Metabolic Disease at St Mary’s Hospital, Manchester, Honorary Manchester Academic Health Science Centre (MAHSC), and Professor in Paediatrics and Senior Lecturer at the University of Manchester, UK; Dipak Ram, Royal College of Paediatrics and Child Health (RCPCH) and British Paediatric Neurology Association (BPNA) National Training Advisor for Paediatric Neurology, and Consultant Paediatric Neurologist at the Royal Manchester Children’s Hospital, UK; and Ally Shaw, primary caregiver of the patients mentioned in this article, explore how the disease impacts the normal development of predominantly young patients; consider its subtle evolution; and witness the stressful diagnostic odyssey families are experiencing, often leading to the wrong diagnosis, which is compounded by the lack of a national newborn screening. Jones and Ram speak directly about the diagnosis and management of these patients. This article also includes the experience of a mother of two affected children, one of whom was diagnosed thanks to their affected older sister, who gave the younger child the chance of receiving a timely treatment. In this disease, time is of the essence; often, patients are sadly diagnosed too late, and are destined to palliative care and premature death. It is hoped that this interview and testimony will help raise awareness on this disease, and give a chance to future patients and their families.