The parents' psychological response to the diagnosis may sometimes be similar to grief responses following serious loss. Immediate reactions can include acute distress or outcry followed by numbness, shock, bewilderment and denial. During the initial crisis period, parents frequently feel overwhelmed and experience intense sadness, guilt or anger. They have difficulty absorbing new information and the way they are informed of the diagnosis and supported has implications of adjustment.
Most parents appear to move through a period of crisis to eventual acceptance and integration of the condition into family life. The period of adjustment is variable.
Psychosocial factors generally associated with family adaptation to childhood chronic conditions include:
Parents who are unable to fully accept their child's diagnosis may present as emotionally overwhelmed, angry, depressed, confused, or they may distort information or avoid addressing relevant issues.
Immediately after diagnosis the family is admitted to a 'care by parent' unit at The Children's Hospital at Westmead for testing for rare variants of PKU and to commence treatment. The family is then asked to attend a PKU clinic weekly until blood phe levels are stabilised. Parents are taught how to do a heel/finger prick blood test - heel prick test - on their child with PKU, in order to monitor whole blood phe.
The parents are asked to send a monitoring card at regular intervals (from weekly to monthly, depending on the age of the child, confidence of the parents and compliance of the family with the diet). The diet is adjusted according to the blood results. The clinic team (metabolic physician, dietitian, social worker, nurse) provides continuing assessment of the child's growth and development, whole blood phe, dietary intake and management issues, and provides education to assist the family to cope with the practical problems of management.
Some of these problems are normal behavioural problems of childhood, such as food refusal, which may be accentuated by the special diet. Social support is important because it provides emotional support, practical assistance and information to assist with parenting. Meeting other families with children with PKU seems a particularly helpful and cost effective form of social support.
As a State wide service, the team has developed strategies to promote continuity of care for families in both metropolitan and remote settings where local services need to be accessed. Transitional issues are dealt with in the special PKU clinic from around the age of 16 years, with transfer to adult services at Westmead Hospital when patients reach 18 years.
Shaw V, Lawson M. Clinical Paediatric Dietetics. (2nd Ed.) Blackwell Scientific Publications, 2001.
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3rd ed available in Scitech library.
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Report of the Medical Research Council Working Party on Phenylketonuria. Recommendations on the dietary management of phenylketonuria. Archives of Disease in Childhood. 1993; 68(3): 425-427.
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NIH Consensus Development Conference on PKU Screening and management, Oct 16-18 2000
consensus.nih.gov/2000/2000Phenylketonuria113html.htm
Beresford B.A. Resources and Strategies: How Parents Cope with the Care of a Disabled Child J. Child Psychol. Psychiat. 1994; 35(1): 171-209
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Shulman, S.; Fisch, R.O.; Zempel, C.E.; Gadish, O. Children with phenylketonuria: The interface of family and child functioning. Journal of Developmental & Behavioral Pediatrics. 1991 12(5): 315-321.
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Drotar, D. Relating parent & family functioning to the psychological adjustment of children with chronic health conditions: What have we learned? What do we need to know? Journal of Pediatric Psychology. 1997 22(2): 149-165.
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Ainbinder, J.G., Blanchard, L.W., Singer, G.H., Sullivan, M.E.; Powers, L.K., Marquis, J.G., Santelli, B. A qualitative study of Parent to Parent support for parents of children with special needs . Journal of Pediatric Psychology. 1998; 23(2): 99-109.
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Williams, J. Hackworth, S.R., Cradock, M.M. Medical crisis and loss clinic: Novel approach to family transitions. Illness, Crisis & Loss. 2002 10(4): 356-366.
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Eiser C. The Psychology of Childhood Illness. Newyork: Springer-Verlag, 1985.
opac.library.usyd.edu.au/record=b1342938~S4
Australasian Society for Inborn Errors of Metabolism PKU Handbook. 1996. Available from the Child Health Information Unit, Royal Alexandra Hospital for Children, Westmead.
NSW PKU Association
National PKU News USA PKU Newsletter website
UK Parents Association