Data on the experiences of patients living with a rare disease are scarce in Australia. Our study addresses this gap and demonstrates impacts on families and on health services in a small, well described group of Australian children diagnosed with a genetic metabolic disorder and attending a state-wide multidisciplinary clinic in Sydney, New South Wales. To assess impact we developed a comprehensive survey, which was judged acceptable and relevant by families living with a child affected by a rare genetic metabolic disease. Our survey is generic and could be applied across a spectrum of rare diseases, given the phenotypically diverse range of metabolic diseases represented by our sample. We propose to study the relevance of this survey to a wider range of rare diseases in the future. Our survey is the first to use validated tools to assess impact on families and to correlate this with health functioning in the child. Such data are needed to inform future development of health and support services for families.
This study has some limitations. Our sample was small, was sourced from a specialised clinic in a tertiary paediatric hospital and included only selected rare disease groups, thus the findings cannot necessarily be extrapolated to other patient groups. Nevertheless, the cohort included 65% of all children with lysosomal storage diseases and mitochondrial diseases from a state-wide service, where no other such service exists, and is therefore likely to be representative of families living with these conditions in NSW and probably throughout Australia. Our response rate (65%), was high compared with the EurordisCare2 survey (33%) , and EurordisCare3 survey (30%) . The RDUK survey did not report a response rate .
Although most children in our study were born in Australia and over half were Caucasian, Asian families (17%) and Middle Eastern families (17%) were over-represented compared with the reported proportion of these groups within the general Australian population (7% Asian and 1.4% North African and Middle eastern) , indicating a high burden for these communities, and a need for awareness raising about genetic disorders. Often the child attending the clinic was not the only affected child in the family. Eight families reported a sibling who was currently affected by the same disorder including five families who had one or more children who had died due to the rare disorder, highlighting the significant and enduring burden of genetic diseases. Such families may benefit from improved access to genetic counselling services.
Forty per cent of families believed that their child’s diagnosis could have been made earlier and many saw multiple doctors before receiving the correct diagnosis. These findings echo results from the EurordisCare2 surveys and the RDUK survey [2, 7, 8]. Delay in diagnosis can have medical consequences such as delayed treatment, unnecessary tests, and psychological stress for the family. Our findings indicate a need for better education of health professionals during undergraduate and post-graduate studies, better awareness of existing information resources and development of new resources to support clinical care. Such resources could include clinical guidelines on diagnosis and treatment, educational modules which could be delivered via the internet and lists of specialised clinics and referral pathways.
The way in which diagnosis was given was satisfactory for most families and only four were ‘not satisfied’ or ‘very unsatisfied’. This compares favourably to results from the EurordisCare2 survey, in which 35% of respondents indicated that they were dissatisfied with the way diagnosis was given . Our sample, however, was very small and included only families who were already attached to a multidisciplinary genetic metabolic service. Families who had negative experiences of receiving the diagnosis may have received the diagnosis from other health professionals outside of the Genetic Metabolic Disorders Service and before being referred to the state-wide service. Few families in our study were offered psychological support or counselling at the time of diagnosis, despite feeling ‘devastated’, ‘confused’, ‘heart-broken’ and ‘in shock’ when given the diagnosis. This highlights the need for routine psychological support following diagnosis.
The level of health related functioning among children with a rare disease can vary widely, however impacts on mobility, cognitive function, emotional functioning and day-to-day activities are common . Caring for a child with a rare condition has a high impact on families even when the child has relatively mild disease. In our study, families of children who scored in the “good health function” range of the (RAHC MOF), scored in the moderate level of family impact on the IOF, indicating that there are factors apart from the level of health function of the child which contribute to the impact on family. Indeed, an Australian study on stress in mothers and fathers of children with fragile X syndrome found the strongest predictors in these families were marital satisfaction (for mothers) and the child’s adaptive abilities (for fathers) . Caring for children with a rare disease has been linked with significant stressors such as the need to accept the diagnosis and adaptation to new roles, increased demands on time, and requirement to manage the child’s day-to-day care . In our study, frequent burdens for families included little time to see relatives and friends and difficulties finding a reliable person to care for their child. High levels of psychological and financial stress were reported by over 75%.
The high levels of reported stress suggest an unmet need for psychological support from mental health professionals, counsellors or peer support groups, however, only 7 of the 30 families were receiving support from a mental health professional and less than half had found a relevant peer support group. Over a third (37%) had searched for a support group overseas, suggesting a lack of availability or access to support groups in Australia. The importance of support groups is being increasingly recognised, through their ability to connect to patients and families via the internet, as well as collaborating with research groups . Organisations such as the Association of Genetic Support of Australasia (http://www.agsa-geneticsupport.org.au) and Genetic Alliance groups across Australia act to promote peer support, however peer support organisations are often poorly resourced and lack coordination. There is also lack of a coordinated approach to advocacy for people living with rare diseases in Australia. A newly established organisation, Rare Voices Australia (http://www.rarevoices.org.au) aims to facilitate better access to and coordination of peer support services and to advocate at the national level for people living with a rare disease.
Our results illustrate the frequent use of health services for some children with rare diseases, including 16 admissions for one child and >50 visits to hospital for three children in a 12 month period. Given such frequent use of health services, the finding that 80% of families felt they had adequate access to health services was positive. However, participants in our study were recruited via a specialised multidisciplinary service and we therefore anticipated high levels of satisfaction with the provision of health services. Nevertheless, families identified key difficulties in accessing care, including practicalities such as time for travel to clinic and long waiting times to see specialist doctors and allied health professionals. The latter suggests a substantial burden for clinics with limited resources and staff. Service delivery via appropriately resourced specialised centres housing medical practitioners, allied health staff, pathology, pharmacy and access to equipment and information in one location and patient held electronic health records might further improve their experiences when accessing many different health professionals. Our survey did not specifically ask whether there were delays to see staff in the multidisciplinary Genetic Metabolic Service or outside of the service, and this will be taken into consideration when further developing our survey.
We were interested in the role of the general practitioner in the care of children with rare diseases and complex and highly specialised needs. An article published in the Medical Journal of Australia by two GPs highlighted the lack of a defined role for the GP when dealing with patients with a rare disease and their families, as well as a lack of available support and resources for GPs . GPs are in the front line of the health system and can empower and advocate for patients living with a rare disease by coordinating care and making decisions about appropriate referrals for diagnosis and treatment as well as providing routine general and preventative health care such as vaccinations. The majority of families (73%) thought their GP was in a position to coordinate the wide range of services their child required. GPs have called for a systematic, primary-care approach to rare disease to assist them in managing patients and families, thereby reducing diagnostic delays, providing care coordination, and providing an extra avenue for access to psychological support .