Volume 8: Variant CJD
6. Diagnosis, treatment and care of vCJD patients
Discussion of diagnosis, treatment and care of vCJD victims

6.197 In this chapter we discuss the experience of families of victims in respect of patient care and management of the illness of their family members. Experience since 20 March 1996 sheds light on the problems faced by families and their doctors before that date. Early diagnosis of this disease has been and continues to be a major problem as the first symptoms are of depression and other non-specific psychiatric features. It is only when neurological signs appear, especially ataxia, that CJD can be considered among the possible diagnoses.

6.198 The only non-invasive test which has to date been found helpful in the investigation is magnetic resonance imaging (an MRI scan), in which the 'pulvinar sign' (high signal level in the thalamus of the brain) is present in 78 per cent of patients affected by vCJD. The test is very specific in that it is not present in other forms of CJD and other neurodegenerative disorders. In the earlier cases of vCJD this test was not available, and the diagnosis was not normally made before death, except in a few cases, where brain or tonsil at biopsy revealed deposits of PrP^Sc. After death the neuropathological findings were diagnostic.

6.199 To this day there is no simple blood or cerebrospinal fluid test which is sufficiently reliable to be used in the ante-mortem diagnosis of vCJD. Research towards an immunological test is currently under way (see vol. 2: Science) but is not yet suitable for clinical application.

6.200 Only palliative treatment of symptoms is currently possible. Further basic research is required and under way into the function of the prion protein and into the factors which lead to the changes in conformation of the PrP which are associated with the pathological changes and with its infectivity. The most promising outcome of this research so far has been the development of -breaker peptides which can reverse the conformational change of the protease-resistant prion protein in the test tube (see vol. 2: Science). If such a change can be induced by drugs in vivo, some hope may be afforded to patients in the early stages of disease. However, this will depend on the development of a reliable early biochemical test.

6.201 This chapter provides an account of the management and care provided to patients with vCJD and the level of support provided to their families. It is evident that in many cases this fell well below the standard that was desirable or would ordinarily be expected from the NHS and social services. The statements provided to the Inquiry by the families describe repeated shortcomings, misunderstandings and failures to appreciate the needs of young patients. In saying this we are not criticising individuals, but draw attention to failures in the system. In a number of instances the families praise the care and attention they received from medical and nursing staff. These instances are important in that they illustrate the level of care that can often help to mitigate the stress and pain of the victims and relieve the anxiety of family carers.

6.202 These shortcomings do not appear to be due to lack of resources, but rather to a failure to appreciate the needs of young patients dying of a progressive neurological illness. Variant CJD emerged as a new and complex disease about which little was known. Staff were seeing the condition for the first time and had little to guide them on prognosis and management. When it was appreciated that aids such as wheelchairs and bathroom lifts were required, they often arrived when they were no longer of use to the patient.

6.203 In many instances, the day-to-day care of the patient was left in the hands of the family members, who often had to leave their employment to devote time to nurse the patient 24 hours a day. It should be emphasised that families preferred to look after the patient at home, but this was associated with a considerable physical and financial burden for which the families received insufficient help. In several instances, respite care was provided for family carers but was not made available to others. This is only one example of the inequality in provision that existed throughout the country.

6.204 Mention should be made of the support to families provided by the Human BSE Foundation and the CJD Support Network. The Foundation is a support group formed by the families of vCJD victims. They distribute literature and provide a telephone helpline. Their personal experience has been used in many ways to improve the care given to patients.

6.205 It seems that patients for whom a care plan had been carefully arranged have received better management than those for whom this was lacking. It should be possible for all suspected vCJD cases to receive such a care plan now that a care co-ordinator has been appointed by the CJDSU to provide advice to statutory care providers in both the health and social services sectors and to act as an advocate on behalf of patients with vCJD and their families.