Tyrosinemia Type 1: An Overview of Nursing Care

Elizabeth Barnby, DNP, ACNP-BC, RN

Disclosures

Pediatr Nurs. 2014;40(2):61-66. 

In This Article

Nursing Care

The care of the child and family with TT1 requires an interdisciplinary, collaborative team approach. Following the tenets of family-centered care, the family is considered an essential part of the team and should be included in care planning in the acute care and outpatient care settings. At different stages of disease progression, treatment decisions will need to be made that enhance both the quantity and quality of life for the child and caregivers. The nurse assumes the role of patient advocate and educator to assure that the family participates in care planning and understands the chronic nature of this lifelong condition. Anticipatory guidance on immunizations, developmental milestones, and future therapy will enhance the quality of life (Vinson, 2002). Prior to transplant, the primary treatment is prevention of metabolic deterioration and neurologic crisis with diet therapy and nitisinone. These therapies should be implemented in a developmentally appropriate way (see Table 2) (Miller & MacDonald, 2006; Taylor, 1996).

Growth and Development

Assessment of dietary intake by evaluation of a 24-hour food diary while on a low-protein diet is an important nursing intervention. A three-day dietary history can also provide critical information about the dietary challenges families face. A healthy diet within food restrictions will enhance normal growth and development. Growth measurements at routine visits should include height and weight measurements. Growth should be monitored by comparison to children of comparable age and gender with normalized values on standardized growth charts (Miller & MacDonald, 2006).

Children and families managing the strict diet will need detailed instructions and feedback on progress to be successful. An individualized nutritional assessment by the metabolic team will provide the dietary prescription, and nurses should educate families about specific measures that improve compliance. Careful attention to delivery of medical food in a socially and developmentally appropriate manner can make all the difference when compliance is an issue. The nursing goal is for the child to eventually self-manage the disease (Kieckhefer & Trahms, 2000; Kieckhefer, Trahms, Churchill, & Simpson, 2009). Co-management with family member supervision can be developed as early as two years of age and continue until the patient is able to self-manage his or her disease in adulthood. A table to outline the care and educational needs of the family at each developmental stage can be a useful tool when planning individualized care (see Table 1).

Patient and Family Education

Early recognition and management of complications to minimize the negative impact through appropriate care strategies will improve long-term outcomes. Minor viral illnesses can become serious if calories are not consumed. The catabolism of protein stores can induce a metabolic crisis. It is important for families of children with TT1 to be advised of this danger. They should be instructed in how to test the urine for ketones. Ketones in the urine can alert families to the danger.

Acute exacerbations should be managed in an acute care facility with close attention to glucose levels and monitoring for metabolic acidosis caused by a build up of toxic metabolites during fasting. Parents should be taught when to bring the patient to the hospital, when to consult the genetics team, and when to give Pedialyte® or glucose solutions to avoid this type of metabolic crisis (Claudius et al., 2005).

Infection prevention is important. Vaccine-preventable diseases can be avoided by routine vaccination to include yearly flu vaccines. After transplant, no live virus vaccines can be administered (Mack et al., 1996). Teaching families simple infection control, such as hand washing, can be helpful when developmentally appropriate.

Psychosocial Support

The complexity of disease management and variety of complications experienced by patients and their families make psychosocial supportive care and patient education essential. The psychosocial support of the family is a critically important role for the nurse. The nurse's role can minimize the impact of associated complications and delay disease progression. Support of the family and child can facilitate developmental achievement and allow the patient to live a happy and productive life. Green (2009). describes what it is like to manage a chronic disease that results in whole organ transplant. In an ethnographic design, Green (2009) isolated four key themes identified by parents of pediatric heart transplant recipients: coping with life, and constantly responsible, worried, and blessed. Parents of these children are under immense psychological pressure, but often feel blessed by the gift of a second chance at life for their child.

Coffey (2006) identified seven themes that describe how parents feel about parenting a child with a chronic disease. This metasynthesis reveals the complex emotions and hardship these families deal with on a daily basis. The seven themes revealed by this metasynthesis described parental feelings about survival as a family, the constant worry and struggles, the burden of disease and an attempt to take charge, critical periods during the illness, and bridges to the outside describing the isolation felt by some parents. Although parents often feel isolated and anxious, the nurse's role can provide critical emotional support, sensi tivity to their struggle, education on technical care, and effective coping strategies that lighten their burden. Caring is truly the first step in assisting families dealing with the demands of managing a complicated disease such as TT1.

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