Recommendation 6

Recommendation 6. Promote integrated and coordinated care across the lifespan as people living with rare disease require a wide range of health and support services.

Recommendation 6.1

Advocate for and deliver an integrated and cross-sectoral model of care.

Why this is important:

People living with rare disease live with multidimensional health and social care needs that can impact every aspect of their life, such as education, employment, finances, family, and community relationships. Integrated care involves coordinating and connecting health services as well as other sectors, including disability, education, and employment. This requires information sharing, clear pathways through these systems, and support in navigating significant life stage transitions.¹¹³

“It can be very difficult to navigate this rare condition within the community, the education department and coordinating all aspects of his care and NDIS funding. It can be very overwhelming at times trying to advocate correctly for the right services.”

Using a multi-sectoral model reduces the amount of time people living with rare disease spend re-telling their story, attending appointments in multiple locations, and searching and advocating for assistance to meet their needs. Importantly, it also reduces the burden to accurately remember and relay all that was discussed with another care provider.¹¹⁴ Thus, the opportunity for error and duplication is limited.

“I share critical health information between my specialists. This is something I don’t feel qualified to do. I am worried that when the information is shared by me, it is not taken seriously.”

How to progress Recommendation 6.1:

Multi-sectoral teams can consist of, but are not limited to:

Such teams would ideally be linked to a rare disease Centre of Expertise (see Recommendation 3). However, many rare conditions lack an easily accessible Centre of Expertise, and many people remain without a diagnosis. In these situations, health professionals can work with people living with rare disease to map out their team (for example, by developing a complex care plan). They can also establish collaborative relationships with such teams, for example, by joining a community of clinical learning practice. This is discussed in Recommendation 8.

To establish and maintain multidisciplinary teams, it is recommended that critical information such as test results, clinical plans, and condition progress are shared. Additionally, it is helpful for copies to be provided to the person and their key carers/support people so they can also share them with organisations outside of health. To keep team members updated on clinical changes and management plans, it is advisable to include all members of the care team in written communication in a timely manner. Open communication between metropolitan specialists and rural and remote doctors is particularly important given the time-poor nature of these latter professionals. Consideration could be made to including a dedicated advice line in service planning for specialist rare disease services/Centres of Expertise.

Resources to facilitate this include (Appendix 2.22):

• Digital platforms, for example, My Health Record and HealthLink
• Medical, health care or patient ‘passports’, which can help convey key information about the person’s condition, routine and emergency management, and preferences for care and communication¹¹⁵
• Personalised Complex Care Plans, shared between all practitioners, the individual, and their family and/or support people, and ideally uploaded onto hospital electronic medical record portals.¹¹⁶ Such plans are most likely to be beneficial when they are accessible (for example, available in digital and paper based formats) and easy to keep updated.¹¹⁷

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Recommendation 6.2

Facilitate care coordination for each person living with rare disease.

Why this is important:

Ideally, each person living with rare disease would have a dedicated care coordinator in their multidisciplinary care team. A care coordinator manages care across multiple sectors, taking the lead on scheduling, organising, and managing all aspects of a person’s health care. They can also be involved in:¹¹⁸

• Assessing and screening for care needs and identifying people at risk for adverse outcomes
• Facilitating delivery of evidence-based care
• Ensuring timely and appropriate referral to specialist, allied health, and support services
• Linking to appropriate social care, disability support, and education/employment support services. For example, NDIS coordination, and carer’s, disability, sibling, and aged care support and funding
• Facilitating continuity of care between health professionals and across care settings
• Providing timely and consistent education and information
• Participating in activities to improve care coordination and optimise outcomes for individuals and services.

Establishing one person to provide support can improve access to care. It can also reduce the mental load and time burden of living with, or caring for someone with, a rare disease.

Currently, care coordination between providers and services for people living with rare disease is lacking.¹¹⁴ People living with rare disease often fill these gaps by juggling multiple roles, including that of advocate, case manager, and medical navigator.

“I coordinate my care. I research my symptoms, stay up-to-date with new diagnostic and treatment advances, plan my visits to different doctors, monitor my symptoms and test results. I ensure I take my medication. I advocate for myself. It is like having a full-time job on top of my other life commitments.”

Recent evaluations have shown that care coordination services can reduce inpatient admissions, emergency department presentations, and travel.¹¹⁹ Additionally, simply recognising the burden of care carried by people living with rare disease and their families/carers builds therapeutic rapport.

How to progress Recommendation 6.2:

Primary health practitioners can play a key role in care coordination as the central clinician, for example, facilitating delivery of evidence-based care. There are specific Medicare item numbers (for example items 721 and 723), which can help primary practitioners hold longer appointments in order to develop a management plan and put into place a team care arrangement.

Services within tertiary hospitals can provide care coordination in a different sense, including assistance with scheduling and organising appointments, especially where extensive inpatient and outpatient care is required. They can also assist with making sure care is coordinated between different health care settings, linking to appropriate social care, disability support, and education/employment support services, for example, NDIS coordination, and carer’s, disability, sibling, and aged care support and funding, and providing information and education.

“A rare disease care plan needs to be created, an essential database … that holds all of our medical scans and documentation that can be easily accessed by not only the specialists, your GP and the patient. We want to have equal access to our records. This allows for transparency…of care, handover between professionals and allows the rare disease patient to be part of their medical journey.”

Multidisciplinary clinics and Centres of Expertise, for example the Rare Care Clinical Centre of Expertise for Rare and Undiagnosed Diseases, Perth Children’s Hospital, Western Australia, and Rare Diseases NSW, Randwick Health and Innovation Precinct (Appendix 2.23), can also assist, with more rare disease Centres of Expertise being launched in other areas soon. If no care coordinator or Centre of Expertise is available, health care professionals should consider which members of the existing health care team could assist with care coordination.

Other useful services to consider include (Appendix 2.23):

• Complex Care Hub at the Royal Children’s Hospital in Melbourne¹²⁰
• Complex Needs Coordination Team (CoNeCT) in Western Australia
• Connected Care Program in Queensland¹²¹
• Kids Guided Personalised Services (KidsGPS) at the Sydney Children’s Hospitals Network^122,123
• Koorliny Mort (Perth Children’s Hospital).¹²⁴

For people with more complex situations, NDIS funding may be available for specialist support coordination to help with coordinating effective community and clinical appointments and support services.¹²⁵

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Recommendation 6.3

Facilitate successful transitions at key points, including to adult and end-of-life care.

Why this is important:

Key health and life transitions that require support include entering school, university, employment, adult care, and end of life care. Periods of transition can be challenging for anyone. For people living with rare disease, who often have complex needs, there is a significant risk that transitions will negatively impact health outcomes, including mental health and wellbeing. Successful transitions are those that cause the least disruption and are respectful to the person’s health and wellbeing.

“A smooth, simple transition as possible for the wellbeing and the continuous care of the patient is really important.”

Support from family members who understand treatment requirements is crucial for people living with rare disease. However, young people transitioning into adulthood often lose this level of support. Without adequate preparation, young people can disengage.¹²⁶

“Why does becoming an adult change everything? I am still the same person with the same symptoms, just one year older.”

A collaborative and comprehensive model of care between clinicians, patients, carers, and services may prevent these impacts and reduce the fear a person living with rare disease may feel when transitioning and learning to manage their own health needs.

“Between the age of eight and 38 I didn’t see a doctor. I’ve got a superb GP now. I was just open and said, ‘You’re the first doctor I’ve seen in 30 years’. And he just said, ‘I don’t doubt it after being through what you’ve been through.’”

For life-limiting conditions, early engagement with palliative care may improve quality of life and increase the likelihood of successful transition.

How to progress Recommendation 6.3:

Begin planning for the transition from paediatric to adult health services in the early teenage years and ensure services are available, in addition to support from a general practitioner or rural generalist. Work towards the long-term goals of the young person managing their condition to the best of their ability, interacting positively with adult health services, and engaging with appropriate cross-sector organisations. Many states have dedicated transition care networks or services, listed in Appendix 2.24. Appendix 2.25 lists key principles for transition that can be used to plan a coordinated and person-centred transition to adult health services.¹²⁷

Paediatric to adult transition services can provide guidance and support to move across health services and prevent feelings of fear, uncertainty, and abandonment that may arise during this process, as well as provide skills training and resources to empower young people living with rare disease.

Refer people with life-limiting conditions to palliative care early to allow time to build relationships and trust with their palliative care team. Understanding the multifaceted role of palliative care, including perinatal palliative care, aids in knowing when to refer and how to discuss these services with people living with rare disease. Relevant palliative care services and resources are listed in Appendix 2.26.

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