Children affected by NPC typically experience progressive intellectual, movement and behavioural problems that can severely limit their performance at school. Annual psychometric testing may be helpful in arranging appropriate school placement. Teenagers and adults with motor or sensory impairments who are driving should be monitored at 6-12 month intervals to ensure that neither they nor other road users are at risk. The progressive dementia and/or psychiatric symptoms that often feature in adult-onset NPC can place severe limits on patients’ abilities to work effectively. Some of the schooling problems experienced in NPC are illustrated in the case history of ‘Child 2’, below.
Child 2 was diagnosed as a neonate when intrauterine hepatosplenomegaly was detected. Her liver disease resolved and her development progress was relatively normal until puberty, at which point she deteriorated markedly with increasing ataxia, learning difficulties and slowing of speech. She was assessed and transferred to a residential special school with on-site health care facilities. She settled very well and progressed well at her own speed. At the age of 16 seizures became a major problem but did improve with medication. This happened to coincide with a long break from school, so the local children’s’ hospice was approached for respite care, although sadly room was not available. A meeting was arranged at her school soon after this, to discuss transitional arrangements for when Child 2 was too old for her current placement. This involved all members of the team, including the school head, her class teacher, the school nurse, the NPC nurse specialist, the physiotherapist, the speech therapist and her social worker, as well as representatives from the education authority and the family.
Normally children progress on to college at the same residential campus as her school. In Child 2’s case however, it was felt that there would be safety risks because the college is not as confined as the school. She is very happy and settled where she is, and because she finds change very distressing, it was agreed that she should stay at the school until the age of nineteen; Child 2 is not upset by being in a class with children younger than her.
Parents of children with NPC, as well as the patients themselves, face some of the biggest possible challenges related to a severe and chronic disease. Parents or other family caregivers learn to provide complex treatment regimes; they recognise and deal with acute crises that can occur at any time. Parents have to deal with a lot of need to understand and take difficult decisions over the familial aspects of the condition such as finance, time management and geographical location. Many parents experience financial problems or difficulties with getting financial support. On top of all this, their energies may be almost totally consumed in coping with the severe disability their child has in terms of everyday living, education and work opportunities.
In addition, while positive effects can occur in some non-affected siblings of children with NPC such as strengthening of parent–child and child–child relationships, negative outcomes can also arise. These can include excessive sibling worry about the ill child’s condition, jealousy of the attention paid to the ill child, and restriction of family events. Chronic illness can be disruptive and stressful for non-affected siblings, and in some cases can interact with other factors to create an increased risk of psychological/emotional disturbance.1 Devising ways of improving mothers’ awareness and helping them to feel confident in managing their child’s illness is important to aid in the optimal development of their ill child as well as any non-affected siblings.2,3
Increased awareness of NPC across the medical community and within families of affected individuals, as well as improved diagnosis, have led to more patients being identified. However, healthcare for a rare genetic disorder such as NPC can be hampered by poor understanding of the disease by local heath services, social services and education. There is an increasing demand for specialist resources to enable the systematic management of patients and referral to specialist centres. Looking ahead, advances in the detection and management of NPC may in future lead to more patients surviving into adolescence and adulthood. While most geographical regions have some provision for paediatric care, resources for older patients with NPC are currently not so common. The patient history below highlights the kind of co-ordinated, team-based support necessary in an adolescent case.
Child 3 was diagnosed with NPC at the age of 16 following increasing difficulties in keeping up with peers at school. He had impaired speech, was ataxic and had problems looking down. In retrospect it was apparent that he had suffered with problems since the age of 4. However, his deterioration was very slow in the intervening time, and he had received good support from local social services to ensure that his problems were addressed. At age 18 he was having greater problems with swallowing, and the speech and language team and a dietician became involved. Child 3 also received physiotherapy because dystonia was affecting his limb positioning and walking, but 6 months later he was in a wheelchair at all times.
When Child 3 was just over 19 his mother contacted the nurse specialist as things seemed to be falling apart. An emergency home visit concluded that his problems were now very complex, but he was no longer covered by paediatric services and had not been allocated another consultant. He was attending a day care centre with in-patient facilities during the day, but his mother felt that he was not receiving enough stimulation as he just sat all day. With no consultant to contact, the nurse specialist spoke with both the social worker and day centre staff, and the first of many meetings was set up to co-ordinate the team that were in contact with Child 3 and his mother. His feeding was assessed and he was fed via a gastrostomy on bad days but allowed to eat if he wished. He was provided with facilities in the home for hoisting, as well as a special bed. A member of staff at the day centre acted as ‘key worker’ to ensure that his needs were all addressed and that everyone was aware of any changes.
For the last year of his life, Child 3 lived in his own flat with 24-hour carers, in line with his wishes at the time. There are times when his mother found it difficult to talk directly to the team, and in these situations the nurse specialist often liaised on the family’s behalf.
References:
1. Drotar D, Crawford P. Psychological adaptation of siblings of chronically ill children: research and practice implications. J Dev Behav Pediatr 1985;6:355–62.
2. Derouin D, Jessee PO. Impact of a chronic illness in childhood: siblings’ perceptions. Issues Compr Pediatr Nurs 1996;19:135–47.
3. Taylor, Fuggle P, Charman T. Well sibling psychological adjustment to chronic physical disorder in a sibling: how important is maternal awareness of their illness attitudes and perceptions? J Child Psychol Psychiatry 2001;42:953–62.
© 2007 Blackwell Publishing Limited. Reproduced by permission.