The experiences of parents of children diagnosed with cerebral adrenoleukodystrophy.

BACKGROUND: Adrenoleukodystrophy (ALD) is a rare X-linked neurodegenerative disease, affecting the brain, spinal cord and adrenal cortex. Childhood cerebral ALD (CCALD) is the most severe form of disease, involving rapidly progressive neurological deterioration. The treatment option for CCALD is allogenic haemopoietic stem cell transplant, which is only successful for early-stage disease. Parents' experiences of CCALD can inform healthcare delivery. STUDY AIM: To detail the experiences of parents of children diagnosed with cerebral ALD. METHODS: A descriptive qualitative study. Parents were recruited via a UK-based community support organisation. Data collection involved single semi-structured interviews structured around a topic guide and conducted remotely. Data were analysed using the thematic analysis approach. FINDINGS: Twelve parents from 11 families with a total of 16 children with ALD contributed to the study. Their 16 children with ALD followed one of three disease pathways, determined by the extent of neurological damage at diagnosis. Three themes, and their respective sub themes, describe the pathways and what they meant for parents. 'No possibility of treatment' concerns situations when CCALD was diagnosed at an advanced stage, the landslide of deterioration parents witnessed and their efforts to maintain normality. 'Close to the treatment threshold' describes situations where a small treatment window required parents to make agonising treatment decisions. 'Watching and waiting' explains the challenges for parents when disease was detected early enabling children to benefit from timely treatment. DISCUSSION: Parents' experiences were largely defined by the extent of cerebral damage at diagnosis, which determined the availability and success of treatment. There were specific challenges related to the three situations, indicating areas where support from health and care services may help parents deal with this devastating diagnosis. CONCLUSION: This study indicates support needs of parents across the spectrum of CCALD diagnoses and highlights the critical importance of early diagnosis.

"It's Just Always Eating": The Experiences of Young People Growing up Medium Chain Acyl-coA Dehydrogenase Deficiency.

Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare metabolic disorder, and commonly now part of newborn screening programs. Those diagnosed at birth are now progressing from childhood to adulthood. The study aim was to explore young people's experiences of living with MCADD and managing their condition. A descriptive qualitative study design involving semi-structured interviews with 12 participants aged 10 to 15 years, recruited from one regional pediatric metabolic disorder service in England. Data were analyzed using thematic analysis. The two major themes were "Eating for energy" and "Growing into a self-management role." Self-monitoring and self-management skills had been nurtured from early childhood by parents and healthcare providers. Young people's anxieties concerned having to maintain adequate energy input to stay safe and the associated burden of responsibility. Growing up with MCADD presents specific challenges. Self-management and ongoing support are important for dealing with those challenges.

Contemporary issues in the training of UK health and social care professionals--Looking after people with a learning disability.

The health and social care of people labelled with 'learning disability' has historically been a disputed territory for those individuals working within the nursing and allied health professions. In recent times this situation has seen public debate as instances of poor care and avoidable deaths have received a high profile in the popular and professional presses. Here we report on a local initiative where students can study for a joint honours award which allows them to practise as a generic social worker and a learning disability nurse. We believe that the inter-professional perspective improves their ability to manage the increasingly complex aspects of health and social care that this client group demands. Furthermore, we suggest that if a similar model were to be applied at a foundation module level to the training of ALL health and social care professionals, then the results would be a win/win situation for all parties. This would also go some way to meeting the recommendations of Sir Jonathan Michael's report, Health Care for All (DH, 2008).

Starting out - Learning disability placement helped me observe boundaries.

My first placement was with a young adult who had Down's syndrome and associated learning difficulties. During the placement, I spent one day a week at his specialist secondary school.