Our priorities
The rare disorder community has collectively identified seven strategic priorities to improve health and wellbeing for people living with a rare disorder:
Early and accurate diagnosis of rare diseases
Coordinated and integrated pathways for cohesive healthcare
Implement simple mechanisms to ensure appropriate access to disability and social supports
Equitable access to modern rare disorder medicines through a specific assessment pathway
Coordinated and funded programme of research for rare disorders
Capture relevant data on rare disorders in New Zealand
Planned training on rare disorders for health professionals and support staff
Early and accurate diagnosis of a rare disorder is important to accessing a range of treatments and healthcare services, yet for many people living with a rare disorder their journey to diagnosis is often long and distressing, and can be costly – not only to the health system, but to their own health.
While New Zealand does screen for a fair number of conditions, and has a publicly funded network of genetic clinics, the country’s performance in rare disorders diagnosis is poor.
More funding for Genetic Health Services NZ would mean an increase in the number of qualified geneticists, to meet current and future demand for genetic testing and to stay up-to-date on technological developments in the fast-growing field of genomics. In the UK and Australia, the public health sector is giving greater attention to developments in genomics, which can be ground-breaking for rare disorder diagnostics. New Zealand should not fall further behind its peers in genetic testing.
PLANNED PATHWAYS FOR CLINICAL CARE
People often report being lost in the health system, starting with a long pathway to diagnosis, or difficulty in accessing treatments and healthcare services, including challenges surrounding coordination of care. In our 2021 survey, almost half of respondents felt that organising care was difficult to manage. This included finding information on the disorder, understanding their rights and administrative procedures (48%) and finding the right professionals (58%).
In other countries this has been addressed by establishing Rare Disease Centres of Excellence that act as hubs of expertise and promote best practice, bringing together experts from multiple specialities to reduce the time to diagnosis and improve the availability and coordination of multi-specialty clinical care.
There is an opportunity to establish such centres by looking to international best practice, developing regional partnerships, and applying a Te Tiriti focus to such work.
ACCESS TO DISABILITY AND SOCIAL SUPPORTS
There are systemic barriers to access disability and social support for many with rare disorders as they often do not meet criteria to access disability support services and funding despite having equivalent need to those that do.
In our 2021 survey, one-third of respondents with a rare disorder had not been submitted for an official health assessment to determine their level of disability. Of those assessed, four in ten felt their assigned percentage of disability was too low. Overall, people did not feel informed at all around the rights related to the consequences of their rare disorder (76%), relevant social services that can help them (73%) or financial help they could be entitled to (71%).
Indeed, our survey shows that the rare disorder population often falls through the gaps in our support systems and that people with undiagnosed and rare disorders, who have disabilities, are not recognised nor receive disability support services, often because the criteria are not designed with this population in mind.
RARE DISORDER MEDICINES/DRUG ACCESS PROGRAMME
In our 2021 survey, a third of respondents were having to undertake self-funding for at least some of their medicines, with a severe financial impact and related consequences to their quality of life. Although less than five percent of rare disorders have a specific treatment, having access to treatment can be lifechanging for people living with a rare disorder.
The independent review of Pharmac found the current model within which rare disorder medicines are assessed at Pharmac contributes to inequitable health outcomes for people living with a rare disorder. The current one-size-fits-all model under the pharmaceutical schedule does not work for low volume, high-cost medicines for rare disorders, and there are too many inconsistencies under the only other avenue – the exceptional circumstances framework.
Neither of these pathways provide reasonable assessment conditions for rare medicines to be approved. A separate assessment pathway for rare medicines with criteria separate to common conditions (as is implemented in Europe, Australia and Japan) is essential to ensure equitable access to medicines for those with rare disorders and where cost per person is not a constant barrier.
Awareness of rare disorders among health professionals, health system leadership and government agencies is poor, with inadequate research funding a major cause. A funded national coordinated programme of research on rare disorders that included active participation by patients, carers and patient advocacy groups, would enable greater international collaboration and information sharing, and vastly improve how New Zealand manages rare disorders.
NATIONAL RARE DISEASE DATABASE
People living with a rare disorder are getting lost in our health system, because their conditions and their needs are not being captured. New Zealand has no official process for collecting data on rare disorders - no disorder specific 'tick boxes' for health professionals to select following diagnosis to register the prevalence and severity of the impact of these conditions. This means this sizeable population group and their needs are invisible and missing out on Government funding and resource allocation as a result.
Data collection is paramount for improving the lives of those living with rare disorders. An integrated and accessible database can aid health professionals in providing an accurate diagnosis and effective treatment to patients, and provide valuable information for researchers and policymakers.
Awareness and training of health professionals is essential to improving the lives of those living with rare disorders. From diagnosis to treatment, the level of awareness of rare disorders a health professional has is crucial to desired health outcomes. A lack of awareness of rare disorders often contributes to people feeling isolated and misunderstood, as well as to delays in diagnosis and treatment, potentially missing opportunities for early intervention and improved outcomes.
In our 2021 survey, over half of respondents found that health professionals were poorly prepared to support their families with the consequences of living with a rare disorder. The majority (66 percent) also said that health professionals have a poor degree of knowledge about rare disorders.