Current Issues Neurometabolic Disease


Table 2: Emotions Reported by Parents and Carers when Receiving a Diagnosis of Niemann-Pick Type C Disease


Emotion Shock


Frustration Details


Symptoms exhibited before diagnosis may have been mild Other proposed diagnoses were less severe


Illness was missed by experts Too much information to process Lack of support


No sources to turn to for further information or help Guilt


Regret at time lost prior to diagnosis Child may have struggled unnecessarily (e.g. in mainstream education)


Feelings of responsibility over the genetically inheritable disease


Despair Relief


Huge emotional impact of being given a diagnosis


Mystery concerning illness has been resolved No more stigma of child’s behaviour or parental anxiety Can access support Can initiate treatment


Determination


Want the best quality of life for the affected family member Want to gather as much information and access support where possible


Determination led to diagnosis; must continue on


Although behavioural problems and learning difficulties may lead to psychiatric referrals, it is often the case that patients are not referred to a neurologist until severe changes in behaviour, such as loss of acquired skills, or the onset of severe physical symptoms, such as seizures or cataplexy, are observed.13


Psychiatric symptoms may take


the longest to diagnose because they can easily be misdiagnosed as common conditions such as schizophrenia and bipolar disorder or non-specific neurodegenerative diseases. It is often not until a patient has shown progressive decline in cognitive function and exhibits dementia and other obvious neurological disabilities that a neurologist or metabolic disease specialist can make a diagnosis of NPC.14


The interviews with all participants revealed a general desire for increased communication between parents, carers and healthcare professionals, with the goal of drawing associations between symptomology and diagnosis of NPC. Greater communication between healthcare professionals in different areas of specialisation is encouraged to allow for discussion and co-operative analysis of the symptoms, potentially facilitating earlier diagnosis of NPC. Diagnosis is further complicated by the fact that a patient may be treated by several specialists in different departments for individual symptoms, which compartmentalises the disease symptoms and hinders the ability to take a holistic view of the patient’s condition. More information from parents at the bequest of a healthcare professional could provide background details that, although potentially unrelated, may provide more clues about symptoms and the overall situation.


Awareness of NPC needs to be increased for facilitated diagnosis. At present, progressive neurological and cognitive decline has to be substantial in the presenting patient to warrant a referral to a neurologist or metabolic disease specialist, at which point biochemical testing or histological analyses can confirm the diagnosis of the disease.1,13,14


The


interviewed healthcare professionals have therefore proposed the implementation of a checklist of metabolic disease symptoms to speed up the diagnostic process. Moreover, increased awareness of the disease symptomology among healthcare providers, particularly


14


A Confirmed Diagnosis of Niemann-Pick Type C Disease


Patients currently have an unmet need for early diagnosis.16 Regardless


of the timeframe in which their family member was diagnosed with NPC, all families interviewed agreed that early diagnosis would be helpful for several reasons: accessing support; having appropriate treatment earlier; preparing for the patient’s future both emotionally and physically; and spending more quality time together before further disease progression. An early diagnosis could also help reduce the potential of feelings of guilt in parents who have passed an inheritable disease to their children and would inform them of the risk of NPC being passed to future children born. From a clinical perspective, the interviewed healthcare professionals reported that the availability of disease-specific treatment in some countries for slowing the progression of or stabilisation of neurological disease progression in NPC has considerably increased the value of early diagnosis. Parents and carers reported a wide range of emotions upon receiving a confirmed diagnosis of NPC (see Table 2). Notably, parents and carers had an obvious need for support systems and further information immediately following the diagnosis. Healthcare professionals therefore play an important role beyond diagnosis in managing the various challenges of an NPC diagnosis. They have the opportunity to advise and educate the family about the disease and its management and treatment, while also providing access to local patient organisations and social and psychological support. Indeed, the interviewed healthcare professionals reported that families of newly diagnosed patients are often overwhelmed with little understanding as to the weight of the diagnosis and having little or no information about the disease. The healthcare providers also noted that these families were not provided with the option or with the knowledge of how to access much needed education, social and psychological support.


The Value of Support


Caring for a seriously ill child can impose significant strains on a family. Physical strains may consist of struggles to identify available services, organising efforts across a number of medical departments and allocating increasing amounts of time towards care as the disease progresses. Emotional strains may negatively affect relationships within the entire family. According to the parents and carers interviewed, the optimal support structure is such that the parents should be at the centre of the model, surrounded by layers of support consisting of social workers, healthcare providers, local government and charities (see Figure 2). However, this is rarely a reality. Rather, accessible daily support is highly variable depending on where the patient lives. The child’s age and local policies are the largest


EUROPEAN NEUROLOGICAL REVIEW


specialists who may see and treat individual symptoms, could provide an even greater opportunity for earlier diagnosis and, thus, earlier treatment and stabilisation of disease progression. To better diagnose NPC and monitor its progression, test batteries have been proposed to establish neuropsychological profiles of patients. In pilot studies, these tests have shown that visuospatial working memory is less affected by the neurodegenerative process in NPC than verbal working memory.15 Such testing is mainly carried out at neurological treatment and research centres; however, awareness of NPC should not be limited to the specialist setting. Interview responses in this survey also indicated that awareness of disease symptoms could also be increased among the community and educational setting, such as among general physicians and school doctors; this could potentially identify children with symptoms for whom further investigation is warranted.


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