The Parent Experience of Caring for a Child with Mitochondrial Disease.

UNLABELLED: Mitochondrial disease is a spectrum of progressive genetic disorders resulting from dysfunctions of cellular metabolism in the mitochondria that greatly compromise the lives of affected individuals, who are often children. PURPOSE: This study described the parent experiences unique to caring for a child with mitochondrial disease. METHODS: Internet surveys were made available to parents of children with a known mitochondrial disease. Surveys included demographic items and two questionnaires: Parent Experience of Child Illness (PECI) and Pediatric Inventory for Parents (PIP). Descriptive data were collected and correlations calculated to determine relationships between the parent experience and stress. RESULTS: The majority of participants (n=231) were mothers (95%) of children with mitochondrial disease around the age of 10 years (M=9.85). Elevated scores were found in parent adjustment illness-related concerns regarding Guilt and Worry (M=2.30, SD=.650), Sorrow and Anger (M=2.09, SD=.730), Long-term Uncertainty (M=2.56, SD=.690), and Emotional Resources (M=2.36, SD=.615). Scores indicated elevated feelings of stress in terms of both difficulty and frequency. Significant correlations (p<0.01) were found between parent illness-related concerns and parenting stress. CONCLUSIONS: The results of this study suggest that parents of a child with mitochondrial disease feel a burden of responsibility that exceeds the typical caregiver role, see their child as fragile, and have concerns about their child's future. Identification of these concerns can assist nurses to better meet the needs of these parents and families.

Long-term central IV access in patients with mitochondrial disease.

Mitochondrial disease results from alteration in genes that control mitochondrial function. Patients with this disease present with multisystem organ involvement that may include gastrointestinal (GI) tract dysfunction, including obstruction, pseudo obstruction, bowel infarction and malabsorption syndromes. For this reason, care of this population may require long-term central intravenous (IV) access for administration of hyperalimentation, fluid, medications and blood products. Additionally, these patients may be immunosuppressed and at risk of sepsis. With vulnerability across many organ systems, symptom exacerbation can result from any physiological, psychological, or environmental stressor. There is no cure for mitochondrial disease, and quality-of-life goals are paramount. If GI tract dysfunction develops, treatment may require high-acuity level home care that includes the use of a central IV access device. This article presents an overview of this challenging population, and a plan for safe and effective central IV access care.

Early presentation of very long chain acyl-CoA dehydrogenase deficiency: nursing action resulting in a positive outcome.

A clinical case of very long chain fatty acid acyl-CoA dehydrogenase (VLCAD) deficiency with cardiac manifestation, is presented. A 2-day old newborn, delivered after a normal pregnancy, birth, and immediate post-natal period, was transported from an outside hospital (OSH) with episodic wide complex tachycardia. In this case, the newborn screen returned suggesting VLCAD deficiency, positively redirecting treatment. An overview of VLCAD, one category of inborn error of metabolism (IEM), is presented. Additionally, the importance of newborn screening, the role of genetic testing, and nursing implications to improve outcomes, will also be discussed.

Functional outcome of children with mitochondrial diseases.

We evaluated the functional outcome in a cohort of 22 children with mitochondrial diseases. The Pediatric Evaluation of Disability Inventory was administered and scaled scores determined. A large variability in functional skills was seen in all 3 assessed domains: Self-Care (46.4 ± 25.6 S.D.; median 42.4; range 11.8-100), Mobility (47.1 ± 30.4 S.D.; median 46.7; range 6.1-100), and Social Function (49.7 ± 22.3 S.D.; median 45.6; range 21.6-100). There was also a large variability in caregiver assistance, ranging from independent functioning to total dependence on assistance for the following: Self-Care (29.0 ± 33.7 S.D.; median 10.1; range 0-100), Mobility (36.6 ± 38.5 S.D.; median 26.1; range 0-100), and Social Function (42.9 ± 32.4 S.D.; median 44.4; range 0-100). The Pediatric Evaluation of Disability Inventory scores describe in depth different, but strongly related, aspects of everyday functioning in children with mitochondrial diseases. The importance of caregiver assistance in helping these children should not be underestimated. The use of assistive devices was estimated, which were found to be used by few patients.