Mitochondrial Disease in Children and Adolescents
Mitochondrial Disease in Children and Adolescents
The primary care provider is vital to ensuring routine health maintenance is provided and coordination occurs between all health professionals involved in the child's care. Timely immunizations, including the yearly influenza vaccine, are critical to illness prevention. Early diagnosis and management of acute illness in the primary care office can prevent further progression of symptoms associated with mitochondrial disease and the need for inpatient hospitalizations. Developmental, vision, and hearing screening by the primary care provider enables early identification of changes and timely referral and intervention.
The primary care provider may need to assist parents in working with the school system to plan a schedule that supports the child's need for rest and nutrition by identifying appropriate goals for the child's Individualize Education Program and 504 accommodations, and educating school personnel regarding their child's condition. Some children may need time set aside during the day to rest, while others may need special permission to have easy access to snacks and fluids. Specific guidelines for physical activities, such as physical education classes, should be clearly defined for the school. These guidelines and emergency plans should be created in collaboration with the metabolic specialist and should be readily available for parents, health care providers, and their school.
Families with an infant, child, or adolescent who is diagnosed with mitochondrial disease often feel alone and isolated due to the lack of public awareness and understanding of these disorders. The primary care provider should be sensitive to this fact and provide support as necessary. Organizations such as United Mitochondrial Disease Foundation (www.umdf.org) and Mito Action (www.mitoaction.org) are important resources that should be suggested to families and individuals who are faced with this life-altering diagnosis. Living Well with Mitochondrial Disease: A Handbook for Patients, Parents, and Families, by Cristy Balcells, MSN, RN, (Balcells, 2012), a mother of a child with mitochondrial disease, is an excellent resource for families to better understand the cause of the disorder, treatment approaches, and practical advice on how to manage symptoms and achieve the best quality of life possible.
Role of the Primary Care Provider
The primary care provider is vital to ensuring routine health maintenance is provided and coordination occurs between all health professionals involved in the child's care. Timely immunizations, including the yearly influenza vaccine, are critical to illness prevention. Early diagnosis and management of acute illness in the primary care office can prevent further progression of symptoms associated with mitochondrial disease and the need for inpatient hospitalizations. Developmental, vision, and hearing screening by the primary care provider enables early identification of changes and timely referral and intervention.
The primary care provider may need to assist parents in working with the school system to plan a schedule that supports the child's need for rest and nutrition by identifying appropriate goals for the child's Individualize Education Program and 504 accommodations, and educating school personnel regarding their child's condition. Some children may need time set aside during the day to rest, while others may need special permission to have easy access to snacks and fluids. Specific guidelines for physical activities, such as physical education classes, should be clearly defined for the school. These guidelines and emergency plans should be created in collaboration with the metabolic specialist and should be readily available for parents, health care providers, and their school.
Families with an infant, child, or adolescent who is diagnosed with mitochondrial disease often feel alone and isolated due to the lack of public awareness and understanding of these disorders. The primary care provider should be sensitive to this fact and provide support as necessary. Organizations such as United Mitochondrial Disease Foundation (www.umdf.org) and Mito Action (www.mitoaction.org) are important resources that should be suggested to families and individuals who are faced with this life-altering diagnosis. Living Well with Mitochondrial Disease: A Handbook for Patients, Parents, and Families, by Cristy Balcells, MSN, RN, (Balcells, 2012), a mother of a child with mitochondrial disease, is an excellent resource for families to better understand the cause of the disorder, treatment approaches, and practical advice on how to manage symptoms and achieve the best quality of life possible.
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